Developmental Signals - Tbx - Revision history

Z8600021 at 03:46, 12 March 2020

2020-03-12T03:46:22Z

← Older revision		Revision as of 13:46, 12 March 2020
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	:"Skeletal muscle is composed of both slow-twitch oxidative myofibers and fast-twitch glycolytic myofibers that differentially impact muscle metabolism, function and eventually whole-body physiology. Here we show that the mesodermal transcription factor T-box 15 (Tbx15) is highly and specifically expressed in glycolytic myofibers. Ablation of Tbx15 in vivo leads to a decrease in muscle size due to a decrease in the number of glycolytic fibres, associated with a small increase in the number of oxidative fibres. This shift in fibre composition results in muscles with slower myofiber contraction and relaxation, and also decreases whole-body oxygen consumption, reduces spontaneous activity, increases adiposity and glucose intolerance. Mechanistically, ablation of Tbx15 leads to activation of AMPK signalling and a decrease in Igf2 expression. Thus, Tbx15 is one of a limited number of transcription factors to be identified with a critical role in regulating glycolytic fibre identity and muscle metabolism."		:"Skeletal muscle is composed of both slow-twitch oxidative myofibers and fast-twitch glycolytic myofibers that differentially impact muscle metabolism, function and eventually whole-body physiology. Here we show that the mesodermal transcription factor T-box 15 (Tbx15) is highly and specifically expressed in glycolytic myofibers. Ablation of Tbx15 in vivo leads to a decrease in muscle size due to a decrease in the number of glycolytic fibres, associated with a small increase in the number of oxidative fibres. This shift in fibre composition results in muscles with slower myofiber contraction and relaxation, and also decreases whole-body oxygen consumption, reduces spontaneous activity, increases adiposity and glucose intolerance. Mechanistically, ablation of Tbx15 leads to activation of AMPK signalling and a decrease in Igf2 expression. Thus, Tbx15 is one of a limited number of transcription factors to be identified with a critical role in regulating glycolytic fibre identity and muscle metabolism."

	:'''Links:''' {{Muscle}} \| [https://www.omim.org/entry/~~604613~~ OMIM - TBX15]]
			:'''Links:''' {{Muscle}} \| [https://www.omim.org/entry/604127 OMIM - TBX15]]
	==References==		==References==
	<references/>		<references/>

Z8600021 at 03:45, 12 March 2020

2020-03-12T03:45:22Z

← Older revision		Revision as of 13:45, 12 March 2020
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	* '''{{Tbx}}1 and {{Fox}}i3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome'''{{#pmid:31412026\|PMID31412026}} "We investigated whether Tbx1, the gene for 22q11.2 deletion syndrome (22q11.2DS) and Foxi3, both required for segmentation of the pharyngeal apparatus (PA) to individual arches, genetically interact. We found that all Tbx1+/-;Foxi3+/- double heterozygous mouse embryos had {{thymus}} and {{parathyroid}} gland defects, similar to those in 22q11.2DS patients.... Several genes expressed in the PA epithelia were downregulated in both {{Tbx}}1 and {{Fox}}i3 null mutant embryos including Notch pathway genes Jag1, Hes1, and Hey1, suggesting that they may, along with other genes, act downstream to explain the observed genetic interaction. We found Alcam and Fibronectin extracellular matrix proteins were reduced in expression in Foxi3 null but not Tbx1 null embryos, suggesting that some, but not all of the downstream mechanisms are shared." [https://www.omim.org/entry/6020547 OMIM - Tbx1] \| [https://www.omim.org/entry/612351 OMIM - Foxi3]		* '''{{Tbx}}1 and {{Fox}}i3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome'''{{#pmid:31412026\|PMID31412026}} "We investigated whether Tbx1, the gene for 22q11.2 deletion syndrome (22q11.2DS) and Foxi3, both required for segmentation of the pharyngeal apparatus (PA) to individual arches, genetically interact. We found that all Tbx1+/-;Foxi3+/- double heterozygous mouse embryos had {{thymus}} and {{parathyroid}} gland defects, similar to those in 22q11.2DS patients.... Several genes expressed in the PA epithelia were downregulated in both {{Tbx}}1 and {{Fox}}i3 null mutant embryos including Notch pathway genes Jag1, Hes1, and Hey1, suggesting that they may, along with other genes, act downstream to explain the observed genetic interaction. We found Alcam and Fibronectin extracellular matrix proteins were reduced in expression in Foxi3 null but not Tbx1 null embryos, suggesting that some, but not all of the downstream mechanisms are shared." [https://www.omim.org/entry/6020547 OMIM - Tbx1] \| [https://www.omim.org/entry/612351 OMIM - Foxi3]
	* '''Complex Compound Inheritance of Lethal Lung Developmental Disorders due to Disruption of the {{TBX}}-{{FGF}} Pathway'''{{#pmid:30639323\|PMID30639323}} "Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a unique collection of samples obtained from deceased individuals with clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia (n = 14), congenital alveolar dysplasia (n = 2), and other lethal lung hypoplasias (n = 10). We identified rare heterozygous copy-number variant deletions or single-nucleotide variants (SNVs) involving {{TBX}}4 (n = 8 and n = 2, respectively) or FGF10 (n = 2 and n = 2, respectively) in 16/26 (61%) individuals. In addition to {{TBX}}4, the overlapping ∼2 Mb recurrent and nonrecurrent deletions at 17q23.1q23.2 identified in seven individuals with lung hypoplasia also remove a lung-specific enhancer region. Individuals with coding variants involving either TBX4 or FGF10 also harbored at least one non-coding SNV in the predicted lung-specific enhancer region, which was absent in 13 control individuals with the overlapping deletions but without any structural lung anomalies. The occurrence of rare coding variants involving {{TBX}}4 or {{FGF}}10 with the putative hypomorphic non-coding SNVs implies a complex compound inheritance of these pulmonary hypoplasias. Moreover, they support the importance of TBX4-FGF10-FGFR2 epithelial-mesenchymal signaling in human lung organogenesis and help to explain the histopathological continuum observed in these rare lethal developmental disorders of the lung." {{respiratory}}		* '''Complex Compound Inheritance of Lethal Lung Developmental Disorders due to Disruption of the {{TBX}}-{{FGF}} Pathway'''{{#pmid:30639323\|PMID30639323}} "Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a unique collection of samples obtained from deceased individuals with clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia (n = 14), congenital alveolar dysplasia (n = 2), and other lethal lung hypoplasias (n = 10). We identified rare heterozygous copy-number variant deletions or single-nucleotide variants (SNVs) involving {{TBX}}4 (n = 8 and n = 2, respectively) or FGF10 (n = 2 and n = 2, respectively) in 16/26 (61%) individuals. In addition to {{TBX}}4, the overlapping ∼2 Mb recurrent and nonrecurrent deletions at 17q23.1q23.2 identified in seven individuals with lung hypoplasia also remove a lung-specific enhancer region. Individuals with coding variants involving either TBX4 or FGF10 also harbored at least one non-coding SNV in the predicted lung-specific enhancer region, which was absent in 13 control individuals with the overlapping deletions but without any structural lung anomalies. The occurrence of rare coding variants involving {{TBX}}4 or {{FGF}}10 with the putative hypomorphic non-coding SNVs implies a complex compound inheritance of these pulmonary hypoplasias. Moreover, they support the importance of TBX4-FGF10-FGFR2 epithelial-mesenchymal signaling in human lung organogenesis and help to explain the histopathological continuum observed in these rare lethal developmental disorders of the lung." {{respiratory}}

	* '''Tbx15 controls skeletal muscle fibre-type determination and muscle metabolism'''{{#pmid:26299309\|PMID26299309}} "Skeletal muscle is composed of both slow-twitch oxidative myofibers and fast-twitch glycolytic myofibers that differentially impact muscle metabolism, function and eventually whole-body physiology. Here we show that the mesodermal transcription factor T-box 15 (Tbx15) is highly and specifically expressed in glycolytic myofibers. Ablation of Tbx15 in vivo leads to a decrease in muscle size due to a decrease in the number of glycolytic fibres, associated with a small increase in the number of oxidative fibres. This shift in fibre composition results in muscles with slower myofiber contraction and relaxation, and also decreases whole-body oxygen consumption, reduces spontaneous activity, increases adiposity and glucose intolerance. Mechanistically, ablation of Tbx15 leads to activation of AMPK signalling and a decrease in Igf2 expression. Thus, Tbx15 is one of a limited number of transcription factors to be identified with a critical role in regulating glycolytic fibre identity and muscle metabolism." [[Musculoskeletal System - Muscle Development\|Muscle Development]]

	\|}		\|}
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	\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}		\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}

	Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Embryology ''Tbx Embryology''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Development ''Tbx Development''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Heart ''Tbx Heart''] \|		Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Embryology ''Tbx Embryology''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Development ''Tbx Development''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Gastrointestinal ''Tbx Gastrointestinal''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Heart ''Tbx Heart''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Limb ''Tbx Limb''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Renal ''Tbx Renal''] \|
			[http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Respiratory ''Tbx Respiratory''] \|


	\|}		\|}
	{\| class="wikitable mw-collapsible mw-collapsed"		{\| class="wikitable mw-collapsible mw-collapsed"
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	\|-		\|-
	\| {{Older papers}}		\| {{Older papers}}
			* '''Tbx15 controls {{skeletal muscle}} fibre-type determination and muscle metabolism'''{{#pmid:26299309\|PMID26299309}} "Skeletal muscle is composed of both slow-twitch oxidative myofibers and fast-twitch glycolytic myofibers that differentially impact muscle metabolism, function and eventually whole-body physiology. Here we show that the mesodermal transcription factor T-box 15 (Tbx15) is highly and specifically expressed in glycolytic myofibers. Ablation of Tbx15 in vivo leads to a decrease in muscle size due to a decrease in the number of glycolytic fibres, associated with a small increase in the number of oxidative fibres. This shift in fibre composition results in muscles with slower myofiber contraction and relaxation, and also decreases whole-body oxygen consumption, reduces spontaneous activity, increases adiposity and glucose intolerance. Mechanistically, ablation of Tbx15 leads to activation of AMPK signalling and a decrease in Igf2 expression. Thus, Tbx15 is one of a limited number of transcription factors to be identified with a critical role in regulating glycolytic fibre identity and muscle metabolism." {{Muscle}}

	* '''Tbx1 controls the morphogenesis of pharyngeal pouch epithelia through mesodermal Wnt11r and Fgf8a'''{{#pmid:25142463\|PMID25142463}} "The pharyngeal pouches are a segmental series of epithelial structures that organize the embryonic vertebrate face. In mice and zebrafish that carry mutations in homologs of the DiGeorge syndrome gene TBX1, a lack of pouches correlates with severe craniofacial defects, yet how Tbx1 controls pouch development remains unclear. Using mutant and transgenic rescue experiments in zebrafish, we show that Tbx1 functions in the mesoderm to promote the morphogenesis of pouch-forming endoderm through wnt11r and fgf8a expression. Consistently, compound losses of wnt11r and fgf8a phenocopy tbx1 mutant pouch defects, and mesoderm-specific restoration of Wnt11r and Fgf8a rescues tbx1 mutant pouches. Time-lapse imaging further reveals that Fgf8a acts as a Wnt11r-dependent guidance cue for migrating pouch cells. We therefore propose a two-step model in which Tbx1 coordinates the Wnt-dependent epithelial destabilization of pouch-forming cells with their collective migration towards Fgf8a-expressing mesodermal guideposts."		* '''Tbx1 controls the morphogenesis of pharyngeal pouch epithelia through mesodermal Wnt11r and Fgf8a'''{{#pmid:25142463\|PMID25142463}} "The pharyngeal pouches are a segmental series of epithelial structures that organize the embryonic vertebrate face. In mice and zebrafish that carry mutations in homologs of the DiGeorge syndrome gene TBX1, a lack of pouches correlates with severe craniofacial defects, yet how Tbx1 controls pouch development remains unclear. Using mutant and transgenic rescue experiments in zebrafish, we show that Tbx1 functions in the mesoderm to promote the morphogenesis of pouch-forming endoderm through wnt11r and fgf8a expression. Consistently, compound losses of wnt11r and fgf8a phenocopy tbx1 mutant pouch defects, and mesoderm-specific restoration of Wnt11r and Fgf8a rescues tbx1 mutant pouches. Time-lapse imaging further reveals that Fgf8a acts as a Wnt11r-dependent guidance cue for migrating pouch cells. We therefore propose a two-step model in which Tbx1 coordinates the Wnt-dependent epithelial destabilization of pouch-forming cells with their collective migration towards Fgf8a-expressing mesodermal guideposts."

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	* TBX18 mutations associated with kidney and urinary tract anomalies - hydroureter (ureter dilation) and ureteropelvic junction obstruction.		* TBX18 mutations associated with kidney and urinary tract anomalies - hydroureter (ureter dilation) and ureteropelvic junction obstruction.

	:'''Links:''' [[Renal ~~Development]]~~ \| [https://www.omim.org/entry/604613 OMIM - TBX18]]		:'''Links:''' {{Renal}} \| [https://www.omim.org/entry/604613 OMIM - TBX18]]

			==Muscle Development==

			'''Tbx15 controls {{skeletal muscle}} fibre-type determination and muscle metabolism'''{{#pmid:26299309\|PMID26299309}}

			:"Skeletal muscle is composed of both slow-twitch oxidative myofibers and fast-twitch glycolytic myofibers that differentially impact muscle metabolism, function and eventually whole-body physiology. Here we show that the mesodermal transcription factor T-box 15 (Tbx15) is highly and specifically expressed in glycolytic myofibers. Ablation of Tbx15 in vivo leads to a decrease in muscle size due to a decrease in the number of glycolytic fibres, associated with a small increase in the number of oxidative fibres. This shift in fibre composition results in muscles with slower myofiber contraction and relaxation, and also decreases whole-body oxygen consumption, reduces spontaneous activity, increases adiposity and glucose intolerance. Mechanistically, ablation of Tbx15 leads to activation of AMPK signalling and a decrease in Igf2 expression. Thus, Tbx15 is one of a limited number of transcription factors to be identified with a critical role in regulating glycolytic fibre identity and muscle metabolism."

			:'''Links:''' {{Muscle}} \| [https://www.omim.org/entry/604613 OMIM - TBX15]]
	==References==		==References==
	<references/>		<references/>

Z8600021 at 03:39, 12 March 2020

2020-03-12T03:39:39Z

← Older revision		Revision as of 13:39, 12 March 2020
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	\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}		\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}

	Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Embryology ''Tbx Embryology''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Development ''Tbx Development'']		Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Embryology ''Tbx Embryology''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Development ''Tbx Development''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Heart ''Tbx Heart''] \|
	\|}		\|}
	{\| class="wikitable mw-collapsible mw-collapsed"		{\| class="wikitable mw-collapsible mw-collapsed"

Z8600021 at 22:07, 9 March 2020

2020-03-09T22:07:52Z

← Older revision		Revision as of 08:07, 10 March 2020
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			* '''Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway'''{{#pmid:30639323\|PMID30639323}} "Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human {{lung}} development, we studied a unique collection of samples obtained from deceased individuals with clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia (n = 14), congenital alveolar dysplasia (n = 2), and other lethal lung hypoplasias (n = 10). We identified rare heterozygous copy-number variant deletions or single-nucleotide variants (SNVs) involving TBX4 (n = 8 and n = 2, respectively) or FGF10 (n = 2 and n = 2, respectively) in 16/26 (61%) individuals. In addition to TBX4, the overlapping ∼2 Mb recurrent and nonrecurrent deletions at 17q23.1q23.2 identified in seven individuals with lung hypoplasia also remove a lung-specific enhancer region. Individuals with coding variants involving either TBX4 or FGF10 also harbored at least one non-coding SNV in the predicted lung-specific enhancer region, which was absent in 13 control individuals with the overlapping deletions but without any structural lung anomalies. The occurrence of rare coding variants involving TBX4 or FGF10 with the putative hypomorphic non-coding SNVs implies a complex compound inheritance of these pulmonary hypoplasias. Moreover, they support the importance of TBX4-FGF10-FGFR2 epithelial-mesenchymal signaling in human lung organogenesis and help to explain the histopathological continuum observed in these rare lethal developmental disorders of the {{lung}}."

	* '''{{Tbx}}1 and {{Fox}}i3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome'''{{#pmid:31412026\|PMID31412026}} "We investigated whether Tbx1, the gene for 22q11.2 deletion syndrome (22q11.2DS) and Foxi3, both required for segmentation of the pharyngeal apparatus (PA) to individual arches, genetically interact. We found that all Tbx1+/-;Foxi3+/- double heterozygous mouse embryos had {{thymus}} and {{parathyroid}} gland defects, similar to those in 22q11.2DS patients.... Several genes expressed in the PA epithelia were downregulated in both {{Tbx}}1 and {{Fox}}i3 null mutant embryos including Notch pathway genes Jag1, Hes1, and Hey1, suggesting that they may, along with other genes, act downstream to explain the observed genetic interaction. We found Alcam and Fibronectin extracellular matrix proteins were reduced in expression in Foxi3 null but not Tbx1 null embryos, suggesting that some, but not all of the downstream mechanisms are shared." [https://www.omim.org/entry/6020547 OMIM - Tbx1] \| [https://www.omim.org/entry/612351 OMIM - Foxi3]		* '''{{Tbx}}1 and {{Fox}}i3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome'''{{#pmid:31412026\|PMID31412026}} "We investigated whether Tbx1, the gene for 22q11.2 deletion syndrome (22q11.2DS) and Foxi3, both required for segmentation of the pharyngeal apparatus (PA) to individual arches, genetically interact. We found that all Tbx1+/-;Foxi3+/- double heterozygous mouse embryos had {{thymus}} and {{parathyroid}} gland defects, similar to those in 22q11.2DS patients.... Several genes expressed in the PA epithelia were downregulated in both {{Tbx}}1 and {{Fox}}i3 null mutant embryos including Notch pathway genes Jag1, Hes1, and Hey1, suggesting that they may, along with other genes, act downstream to explain the observed genetic interaction. We found Alcam and Fibronectin extracellular matrix proteins were reduced in expression in Foxi3 null but not Tbx1 null embryos, suggesting that some, but not all of the downstream mechanisms are shared." [https://www.omim.org/entry/6020547 OMIM - Tbx1] \| [https://www.omim.org/entry/612351 OMIM - Foxi3]
	* '''Complex Compound Inheritance of Lethal Lung Developmental Disorders due to Disruption of the {{TBX}}-{{FGF}} Pathway'''{{#pmid:30639323\|PMID30639323}} "Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a unique collection of samples obtained from deceased individuals with clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia (n = 14), congenital alveolar dysplasia (n = 2), and other lethal lung hypoplasias (n = 10). We identified rare heterozygous copy-number variant deletions or single-nucleotide variants (SNVs) involving {{TBX}}4 (n = 8 and n = 2, respectively) or FGF10 (n = 2 and n = 2, respectively) in 16/26 (61%) individuals. In addition to {{TBX}}4, the overlapping ∼2 Mb recurrent and nonrecurrent deletions at 17q23.1q23.2 identified in seven individuals with lung hypoplasia also remove a lung-specific enhancer region. Individuals with coding variants involving either TBX4 or FGF10 also harbored at least one non-coding SNV in the predicted lung-specific enhancer region, which was absent in 13 control individuals with the overlapping deletions but without any structural lung anomalies. The occurrence of rare coding variants involving {{TBX}}4 or {{FGF}}10 with the putative hypomorphic non-coding SNVs implies a complex compound inheritance of these pulmonary hypoplasias. Moreover, they support the importance of TBX4-FGF10-FGFR2 epithelial-mesenchymal signaling in human lung organogenesis and help to explain the histopathological continuum observed in these rare lethal developmental disorders of the lung." {{respiratory}}		* '''Complex Compound Inheritance of Lethal Lung Developmental Disorders due to Disruption of the {{TBX}}-{{FGF}} Pathway'''{{#pmid:30639323\|PMID30639323}} "Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a unique collection of samples obtained from deceased individuals with clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia (n = 14), congenital alveolar dysplasia (n = 2), and other lethal lung hypoplasias (n = 10). We identified rare heterozygous copy-number variant deletions or single-nucleotide variants (SNVs) involving {{TBX}}4 (n = 8 and n = 2, respectively) or FGF10 (n = 2 and n = 2, respectively) in 16/26 (61%) individuals. In addition to {{TBX}}4, the overlapping ∼2 Mb recurrent and nonrecurrent deletions at 17q23.1q23.2 identified in seven individuals with lung hypoplasia also remove a lung-specific enhancer region. Individuals with coding variants involving either TBX4 or FGF10 also harbored at least one non-coding SNV in the predicted lung-specific enhancer region, which was absent in 13 control individuals with the overlapping deletions but without any structural lung anomalies. The occurrence of rare coding variants involving {{TBX}}4 or {{FGF}}10 with the putative hypomorphic non-coding SNVs implies a complex compound inheritance of these pulmonary hypoplasias. Moreover, they support the importance of TBX4-FGF10-FGFR2 epithelial-mesenchymal signaling in human lung organogenesis and help to explain the histopathological continuum observed in these rare lethal developmental disorders of the lung." {{respiratory}}

Z8600021 at 15:52, 9 March 2020

2020-03-09T15:52:03Z

← Older revision		Revision as of 01:52, 10 March 2020
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	==Some Recent Findings==		==Some Recent Findings==
			[[File:Pharyngeal arch segmentation model - Tbx and Fox.jpg\|thumb\|Pharyngeal arch segmentation model Tbx1 and Foxi3{{#pmid:31412026\|PMID31412026}}]]
	{\|		{\|
	\|-bgcolor="F5FAFF"		\|-bgcolor="F5FAFF"
	\|		\|
			* '''{{Tbx}}1 and {{Fox}}i3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome'''{{#pmid:31412026\|PMID31412026}} "We investigated whether Tbx1, the gene for 22q11.2 deletion syndrome (22q11.2DS) and Foxi3, both required for segmentation of the pharyngeal apparatus (PA) to individual arches, genetically interact. We found that all Tbx1+/-;Foxi3+/- double heterozygous mouse embryos had {{thymus}} and {{parathyroid}} gland defects, similar to those in 22q11.2DS patients.... Several genes expressed in the PA epithelia were downregulated in both {{Tbx}}1 and {{Fox}}i3 null mutant embryos including Notch pathway genes Jag1, Hes1, and Hey1, suggesting that they may, along with other genes, act downstream to explain the observed genetic interaction. We found Alcam and Fibronectin extracellular matrix proteins were reduced in expression in Foxi3 null but not Tbx1 null embryos, suggesting that some, but not all of the downstream mechanisms are shared." [https://www.omim.org/entry/6020547 OMIM - Tbx1] \| [https://www.omim.org/entry/612351 OMIM - Foxi3]
	* '''Complex Compound Inheritance of Lethal Lung Developmental Disorders due to Disruption of the {{TBX}}-{{FGF}} Pathway'''{{#pmid:30639323\|PMID30639323}} "Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a unique collection of samples obtained from deceased individuals with clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia (n = 14), congenital alveolar dysplasia (n = 2), and other lethal lung hypoplasias (n = 10). We identified rare heterozygous copy-number variant deletions or single-nucleotide variants (SNVs) involving {{TBX}}4 (n = 8 and n = 2, respectively) or FGF10 (n = 2 and n = 2, respectively) in 16/26 (61%) individuals. In addition to {{TBX}}4, the overlapping ∼2 Mb recurrent and nonrecurrent deletions at 17q23.1q23.2 identified in seven individuals with lung hypoplasia also remove a lung-specific enhancer region. Individuals with coding variants involving either TBX4 or FGF10 also harbored at least one non-coding SNV in the predicted lung-specific enhancer region, which was absent in 13 control individuals with the overlapping deletions but without any structural lung anomalies. The occurrence of rare coding variants involving {{TBX}}4 or {{FGF}}10 with the putative hypomorphic non-coding SNVs implies a complex compound inheritance of these pulmonary hypoplasias. Moreover, they support the importance of TBX4-FGF10-FGFR2 epithelial-mesenchymal signaling in human lung organogenesis and help to explain the histopathological continuum observed in these rare lethal developmental disorders of the lung." {{respiratory}}		* '''Complex Compound Inheritance of Lethal Lung Developmental Disorders due to Disruption of the {{TBX}}-{{FGF}} Pathway'''{{#pmid:30639323\|PMID30639323}} "Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a unique collection of samples obtained from deceased individuals with clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia (n = 14), congenital alveolar dysplasia (n = 2), and other lethal lung hypoplasias (n = 10). We identified rare heterozygous copy-number variant deletions or single-nucleotide variants (SNVs) involving {{TBX}}4 (n = 8 and n = 2, respectively) or FGF10 (n = 2 and n = 2, respectively) in 16/26 (61%) individuals. In addition to {{TBX}}4, the overlapping ∼2 Mb recurrent and nonrecurrent deletions at 17q23.1q23.2 identified in seven individuals with lung hypoplasia also remove a lung-specific enhancer region. Individuals with coding variants involving either TBX4 or FGF10 also harbored at least one non-coding SNV in the predicted lung-specific enhancer region, which was absent in 13 control individuals with the overlapping deletions but without any structural lung anomalies. The occurrence of rare coding variants involving {{TBX}}4 or {{FGF}}10 with the putative hypomorphic non-coding SNVs implies a complex compound inheritance of these pulmonary hypoplasias. Moreover, they support the importance of TBX4-FGF10-FGFR2 epithelial-mesenchymal signaling in human lung organogenesis and help to explain the histopathological continuum observed in these rare lethal developmental disorders of the lung." {{respiratory}}

Z8600021 at 05:18, 22 Ocak 2019

2019-01-22T05:18:20Z

← Older revision		Revision as of 15:18, 22 Ocak 2019
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	\|-bgcolor="F5FAFF"		\|-bgcolor="F5FAFF"
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	* '''Complex Compound Inheritance of Lethal Lung Developmental Disorders due to Disruption of the {{TBX}}-{{FGF}} Pathway'''{{#pmid:30639323\|PMID30639323}} "Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a unique collection of samples obtained from deceased individuals with clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia (n = 14), congenital alveolar dysplasia (n = 2), and other lethal lung hypoplasias (n = 10). We identified rare heterozygous copy-number variant deletions or single-nucleotide variants (SNVs) involving {{TBX}}4 (n = 8 and n = 2, respectively) or FGF10 (n = 2 and n = 2, respectively) in 16/26 (61%) individuals. In addition to {{TBX}}4, the overlapping ∼2 Mb recurrent and nonrecurrent deletions at 17q23.1q23.2 identified in seven individuals with lung hypoplasia also remove a lung-specific enhancer region. Individuals with coding variants involving either TBX4 or FGF10 also harbored at least one non-coding SNV in the predicted lung-specific enhancer region, which was absent in 13 control individuals with the overlapping deletions but without any structural lung anomalies. The occurrence of rare coding variants involving {{TBX}}4 or {{FGF}}10 with the putative hypomorphic non-coding SNVs implies a complex compound inheritance of these pulmonary hypoplasias. Moreover, they support the importance of TBX4-FGF10-FGFR2 epithelial-mesenchymal signaling in human lung organogenesis and help to explain the histopathological continuum observed in these rare lethal developmental disorders of the lung."		* '''Complex Compound Inheritance of Lethal Lung Developmental Disorders due to Disruption of the {{TBX}}-{{FGF}} Pathway'''{{#pmid:30639323\|PMID30639323}} "Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a unique collection of samples obtained from deceased individuals with clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia (n = 14), congenital alveolar dysplasia (n = 2), and other lethal lung hypoplasias (n = 10). We identified rare heterozygous copy-number variant deletions or single-nucleotide variants (SNVs) involving {{TBX}}4 (n = 8 and n = 2, respectively) or FGF10 (n = 2 and n = 2, respectively) in 16/26 (61%) individuals. In addition to {{TBX}}4, the overlapping ∼2 Mb recurrent and nonrecurrent deletions at 17q23.1q23.2 identified in seven individuals with lung hypoplasia also remove a lung-specific enhancer region. Individuals with coding variants involving either TBX4 or FGF10 also harbored at least one non-coding SNV in the predicted lung-specific enhancer region, which was absent in 13 control individuals with the overlapping deletions but without any structural lung anomalies. The occurrence of rare coding variants involving {{TBX}}4 or {{FGF}}10 with the putative hypomorphic non-coding SNVs implies a complex compound inheritance of these pulmonary hypoplasias. Moreover, they support the importance of TBX4-FGF10-FGFR2 epithelial-mesenchymal signaling in human lung organogenesis and help to explain the histopathological continuum observed in these rare lethal developmental disorders of the lung." {{respiratory}}

	* '''Tbx15 controls skeletal muscle fibre-type determination and muscle metabolism'''{{#pmid:26299309\|PMID26299309}} "Skeletal muscle is composed of both slow-twitch oxidative myofibers and fast-twitch glycolytic myofibers that differentially impact muscle metabolism, function and eventually whole-body physiology. Here we show that the mesodermal transcription factor T-box 15 (Tbx15) is highly and specifically expressed in glycolytic myofibers. Ablation of Tbx15 in vivo leads to a decrease in muscle size due to a decrease in the number of glycolytic fibres, associated with a small increase in the number of oxidative fibres. This shift in fibre composition results in muscles with slower myofiber contraction and relaxation, and also decreases whole-body oxygen consumption, reduces spontaneous activity, increases adiposity and glucose intolerance. Mechanistically, ablation of Tbx15 leads to activation of AMPK signalling and a decrease in Igf2 expression. Thus, Tbx15 is one of a limited number of transcription factors to be identified with a critical role in regulating glycolytic fibre identity and muscle metabolism." [[Musculoskeletal System - Muscle Development\|Muscle Development]]		* '''Tbx15 controls skeletal muscle fibre-type determination and muscle metabolism'''{{#pmid:26299309\|PMID26299309}} "Skeletal muscle is composed of both slow-twitch oxidative myofibers and fast-twitch glycolytic myofibers that differentially impact muscle metabolism, function and eventually whole-body physiology. Here we show that the mesodermal transcription factor T-box 15 (Tbx15) is highly and specifically expressed in glycolytic myofibers. Ablation of Tbx15 in vivo leads to a decrease in muscle size due to a decrease in the number of glycolytic fibres, associated with a small increase in the number of oxidative fibres. This shift in fibre composition results in muscles with slower myofiber contraction and relaxation, and also decreases whole-body oxygen consumption, reduces spontaneous activity, increases adiposity and glucose intolerance. Mechanistically, ablation of Tbx15 leads to activation of AMPK signalling and a decrease in Igf2 expression. Thus, Tbx15 is one of a limited number of transcription factors to be identified with a critical role in regulating glycolytic fibre identity and muscle metabolism." [[Musculoskeletal System - Muscle Development\|Muscle Development]]

Z8600021 at 05:17, 22 Ocak 2019

2019-01-22T05:17:32Z

← Older revision		Revision as of 15:17, 22 Ocak 2019
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	\|-bgcolor="F5FAFF"		\|-bgcolor="F5FAFF"
	\|		\|
			* '''Complex Compound Inheritance of Lethal Lung Developmental Disorders due to Disruption of the {{TBX}}-{{FGF}} Pathway'''{{#pmid:30639323\|PMID30639323}} "Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a unique collection of samples obtained from deceased individuals with clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia (n = 14), congenital alveolar dysplasia (n = 2), and other lethal lung hypoplasias (n = 10). We identified rare heterozygous copy-number variant deletions or single-nucleotide variants (SNVs) involving {{TBX}}4 (n = 8 and n = 2, respectively) or FGF10 (n = 2 and n = 2, respectively) in 16/26 (61%) individuals. In addition to {{TBX}}4, the overlapping ∼2 Mb recurrent and nonrecurrent deletions at 17q23.1q23.2 identified in seven individuals with lung hypoplasia also remove a lung-specific enhancer region. Individuals with coding variants involving either TBX4 or FGF10 also harbored at least one non-coding SNV in the predicted lung-specific enhancer region, which was absent in 13 control individuals with the overlapping deletions but without any structural lung anomalies. The occurrence of rare coding variants involving {{TBX}}4 or {{FGF}}10 with the putative hypomorphic non-coding SNVs implies a complex compound inheritance of these pulmonary hypoplasias. Moreover, they support the importance of TBX4-FGF10-FGFR2 epithelial-mesenchymal signaling in human lung organogenesis and help to explain the histopathological continuum observed in these rare lethal developmental disorders of the lung."

	* '''Tbx15 controls skeletal muscle fibre-type determination and muscle metabolism'''{{#pmid:26299309\|PMID26299309}} "Skeletal muscle is composed of both slow-twitch oxidative myofibers and fast-twitch glycolytic myofibers that differentially impact muscle metabolism, function and eventually whole-body physiology. Here we show that the mesodermal transcription factor T-box 15 (Tbx15) is highly and specifically expressed in glycolytic myofibers. Ablation of Tbx15 in vivo leads to a decrease in muscle size due to a decrease in the number of glycolytic fibres, associated with a small increase in the number of oxidative fibres. This shift in fibre composition results in muscles with slower myofiber contraction and relaxation, and also decreases whole-body oxygen consumption, reduces spontaneous activity, increases adiposity and glucose intolerance. Mechanistically, ablation of Tbx15 leads to activation of AMPK signalling and a decrease in Igf2 expression. Thus, Tbx15 is one of a limited number of transcription factors to be identified with a critical role in regulating glycolytic fibre identity and muscle metabolism." [[Musculoskeletal System - Muscle Development\|Muscle Development]]		* '''Tbx15 controls skeletal muscle fibre-type determination and muscle metabolism'''{{#pmid:26299309\|PMID26299309}} "Skeletal muscle is composed of both slow-twitch oxidative myofibers and fast-twitch glycolytic myofibers that differentially impact muscle metabolism, function and eventually whole-body physiology. Here we show that the mesodermal transcription factor T-box 15 (Tbx15) is highly and specifically expressed in glycolytic myofibers. Ablation of Tbx15 in vivo leads to a decrease in muscle size due to a decrease in the number of glycolytic fibres, associated with a small increase in the number of oxidative fibres. This shift in fibre composition results in muscles with slower myofiber contraction and relaxation, and also decreases whole-body oxygen consumption, reduces spontaneous activity, increases adiposity and glucose intolerance. Mechanistically, ablation of Tbx15 leads to activation of AMPK signalling and a decrease in Igf2 expression. Thus, Tbx15 is one of a limited number of transcription factors to be identified with a critical role in regulating glycolytic fibre identity and muscle metabolism." [[Musculoskeletal System - Muscle Development\|Muscle Development]]

	* '''Tbx1 controls the morphogenesis of pharyngeal pouch epithelia through mesodermal Wnt11r and Fgf8a'''{{#pmid:25142463\|PMID25142463}} "The pharyngeal pouches are a segmental series of epithelial structures that organize the embryonic vertebrate face. In mice and zebrafish that carry mutations in homologs of the DiGeorge syndrome gene TBX1, a lack of pouches correlates with severe craniofacial defects, yet how Tbx1 controls pouch development remains unclear. Using mutant and transgenic rescue experiments in zebrafish, we show that Tbx1 functions in the mesoderm to promote the morphogenesis of pouch-forming endoderm through wnt11r and fgf8a expression. Consistently, compound losses of wnt11r and fgf8a phenocopy tbx1 mutant pouch defects, and mesoderm-specific restoration of Wnt11r and Fgf8a rescues tbx1 mutant pouches. Time-lapse imaging further reveals that Fgf8a acts as a Wnt11r-dependent guidance cue for migrating pouch cells. We therefore propose a two-step model in which Tbx1 coordinates the Wnt-dependent epithelial destabilization of pouch-forming cells with their collective migration towards Fgf8a-expressing mesodermal guideposts."

	* '''Tbx1 regulates oral epithelial adhesion and palatal development'''{{#pmid:22371266\|PMID22371266}} "Cleft palate, the most frequent congenital craniofacial birth defect, is a multifactorial condition induced by the interaction of genetic and environmental factors. In addition to complete cleft palate, a large number of human cases involve soft palate cleft and submucosal cleft palate. ...These findings suggest that Tbx1 regulates the balance between proliferation and differentiation of keratinocytes and is essential for palatal fusion and oral mucosal differentiation. The impaired adhesion separation of the oral epithelium together with compromised palatal mesenchymal growth is an underlying cause for various forms of cleft palate phenotypes in Tbx1(-/-) mice. Our present study reveals new pathogenesis of incomplete and submucous cleft palate during mammalian palatogenesis."

	\|}		\|}
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	\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}		\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}

	Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Embryology ''Tbx Embryology'']		Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Embryology ''Tbx Embryology''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tbx+Development ''Tbx Development'']
			\|}
			{\| class="wikitable mw-collapsible mw-collapsed"
			! Older papers
			\|-
			\| {{Older papers}}
			* '''Tbx1 controls the morphogenesis of pharyngeal pouch epithelia through mesodermal Wnt11r and Fgf8a'''{{#pmid:25142463\|PMID25142463}} "The pharyngeal pouches are a segmental series of epithelial structures that organize the embryonic vertebrate face. In mice and zebrafish that carry mutations in homologs of the DiGeorge syndrome gene TBX1, a lack of pouches correlates with severe craniofacial defects, yet how Tbx1 controls pouch development remains unclear. Using mutant and transgenic rescue experiments in zebrafish, we show that Tbx1 functions in the mesoderm to promote the morphogenesis of pouch-forming endoderm through wnt11r and fgf8a expression. Consistently, compound losses of wnt11r and fgf8a phenocopy tbx1 mutant pouch defects, and mesoderm-specific restoration of Wnt11r and Fgf8a rescues tbx1 mutant pouches. Time-lapse imaging further reveals that Fgf8a acts as a Wnt11r-dependent guidance cue for migrating pouch cells. We therefore propose a two-step model in which Tbx1 coordinates the Wnt-dependent epithelial destabilization of pouch-forming cells with their collective migration towards Fgf8a-expressing mesodermal guideposts."

	~~<pubmed limit=5>Tbx Embryology<~~/~~pubmed>~~		* '''Tbx1 regulates oral epithelial adhesion and palatal development'''{{#pmid:22371266\|PMID22371266}} "Cleft palate, the most frequent congenital craniofacial birth defect, is a multifactorial condition induced by the interaction of genetic and environmental factors. In addition to complete cleft palate, a large number of human cases involve soft palate cleft and submucosal cleft palate. ...These findings suggest that Tbx1 regulates the balance between proliferation and differentiation of keratinocytes and is essential for palatal fusion and oral mucosal differentiation. The impaired adhesion separation of the oral epithelium together with compromised palatal mesenchymal growth is an underlying cause for various forms of cleft palate phenotypes in Tbx1(-/-) mice. Our present study reveals new pathogenesis of incomplete and submucous cleft palate during mammalian palatogenesis."
	\|}		\|}

	==Human TBX Family==		==Human TBX Family==

Z8600021 at 00:53, 23 April 2018

2018-04-23T00:53:49Z

← Older revision		Revision as of 10:53, 23 April 2018
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	[[File:Mouse_Tbx4.jpg\|thumb\|Mouse hindlimb Tbx4 expression.{{#pmid:22174793\|PMID22174793}}]]		[[File:Mouse_Tbx4.jpg\|thumb\|Mouse hindlimb Tbx4 expression.{{#pmid:22174793\|PMID22174793}}]]

	Brachyury was the first of this transcription factor family to be identified in mouse.{{#pmid:11268043\|PMID11268043}} Genes in the TBX gene family provide instructions for making proteins called T-box proteins that play critical roles during embryonic development. These proteins are especially important for normal development of the arms, hands, and heart. T-box proteins regulate the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, T-box proteins are called transcription factors. Genes in the T-box family are grouped together because the proteins produced from these genes share a similar segment called a T box. The T box is the part of the protein that binds to DNA. T-box proteins often interact with one another or with other transcription factors that regulate gene activity.		Brachyury was the first of this transcription factor family to be identified in mouse.{{#pmid:11268043\|PMID11268043}} Genes in the {{TBX}} gene family provide instructions for making proteins called T-box proteins that play critical roles during embryonic development. These proteins are especially important for normal development of the arms, hands, and heart. T-box proteins regulate the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, T-box proteins are called transcription factors. Genes in the T-box family are grouped together because the proteins produced from these genes share a similar segment called a T box. The T box is the part of the protein that binds to DNA. T-box proteins often interact with one another or with other transcription factors that regulate gene activity.

Z8600021 at 00:39, 20 March 2018

2018-03-20T00:39:00Z

← Older revision		Revision as of 10:39, 20 March 2018
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	{{Header}}		{{Header}}
	==Introduction==		==Introduction==
	[[File:Mouse_Tbx5.jpg\|thumb\|Mouse forelimb Tbx5 expression.{{#pmid:22174793\|PMID22174793}}		[[File:Mouse_Tbx5.jpg\|thumb\|Mouse forelimb Tbx5 expression.{{#pmid:22174793\|PMID22174793}}]]

	[[File:Mouse_Tbx4.jpg\|thumb\|Mouse hindlimb Tbx4 expression.{{#pmid:22174793\|PMID22174793}}		[[File:Mouse_Tbx4.jpg\|thumb\|Mouse hindlimb Tbx4 expression.{{#pmid:22174793\|PMID22174793}}]]

	Brachyury was the first of this transcription factor family to be identified in mouse.{{#pmid:11268043\|PMID11268043}} Genes in the TBX gene family provide instructions for making proteins called T-box proteins that play critical roles during embryonic development. These proteins are especially important for normal development of the arms, hands, and heart. T-box proteins regulate the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, T-box proteins are called transcription factors. Genes in the T-box family are grouped together because the proteins produced from these genes share a similar segment called a T box. The T box is the part of the protein that binds to DNA. T-box proteins often interact with one another or with other transcription factors that regulate gene activity.		Brachyury was the first of this transcription factor family to be identified in mouse.{{#pmid:11268043\|PMID11268043}} Genes in the TBX gene family provide instructions for making proteins called T-box proteins that play critical roles during embryonic development. These proteins are especially important for normal development of the arms, hands, and heart. T-box proteins regulate the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, T-box proteins are called transcription factors. Genes in the T-box family are grouped together because the proteins produced from these genes share a similar segment called a T box. The T box is the part of the protein that binds to DNA. T-box proteins often interact with one another or with other transcription factors that regulate gene activity.

Z8600021 at 11:18, 19 March 2018

2018-03-19T11:18:03Z

← Older revision		Revision as of 21:18, 19 March 2018
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	[[File:Mouse-_forelimb-bud-Tbx3-Tbx2.jpg\|600px]]		[[File:Mouse-_forelimb-bud-Tbx3-Tbx2.jpg\|600px]]

	Mouse forelimb bud Tbx3 and Tbx2 expression~~<ref name=PMID20386744><pubmed>~~20386744~~</pubmed>~~\| ~~[http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000901 PLoS Genet.]</ref>~~		Mouse forelimb bud Tbx3 and Tbx2 expression{{#pmid:20386744\|PMID20386744}}

	[[File:Chicken limb gene expression 02.jpg\|600px]]		[[File:Chicken limb gene expression 02.jpg\|600px]]

	Chicken stage 21 wing bud~~<ref><pubmed>~~21526123~~</pubmed>~~\| ~~[http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0018661 PLoS One.]</ref>~~		Chicken stage 21 wing bud{{#pmid:21526123\|PMID21526123}}

	[[File:Hindlimb Tbx2 model.jpg\|600px\|alt=Hindlimb Tbx2 model]]		[[File:Hindlimb Tbx2 model.jpg\|600px\|alt=Hindlimb Tbx2 model]]

	Hindlimb Tbx2 model~~<ref name=PMID23633963<pubmed>~~23633963~~</pubmed>~~\| ~~[http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1003467 PLoS Genet.]</ref>~~		Hindlimb Tbx2 model{{#pmid:23633963\|PMID23633963}}


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	{\|		{\|
	\| [[File:Mouse respiratory Tbx4 and Tbx5.jpg\|600px]]		\| [[File:Mouse respiratory Tbx4 and Tbx5.jpg\|600px]]
	\| '''Mouse respiratory Tbx4 and Tbx5 model'''~~<ref name=PMID22876201><pubmed>~~22876201~~</pubmed>~~\| ~~[http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1002866 PLoS Genet.]</ref>~~		\| '''Mouse respiratory Tbx4 and Tbx5 model'''{{#pmid:22876201\|PMID22876201}}

	* '''A''' - Lung and trachea specification begins at E9.0 in the ventral foregut and at this time Tbx5 expression (light purple) is adjacent to the presumptive endoderm. Later, Tbx4 and Tbx5 expression (dark purple) is in mesenchyme associated with the lung and trachea. Tbx5 but not Tbx4 is important for specification of bilateral lung buds and the trachea.		* '''A''' - Lung and trachea specification begins at E9.0 in the ventral foregut and at this time Tbx5 expression (light purple) is adjacent to the presumptive endoderm. Later, Tbx4 and Tbx5 expression (dark purple) is in mesenchyme associated with the lung and trachea. Tbx5 but not Tbx4 is important for specification of bilateral lung buds and the trachea.
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	Tbx3 and Tbx18 are both involved with [[Detailed Cardiac - Sinus Node\|sinoatrial node development]].		Tbx3 and Tbx18 are both involved with [[Detailed Cardiac - Sinus Node\|sinoatrial node development]].

	'''Cardiac conduction system'''~~<ref name=~~PMID22706305~~><pubmed>22706305</pubmed></ref>~~ "Here, we assessed the genome-wide occupation of conduction system-regulating transcription factors TBX3, NKX2-5, and GATA4 and of enhancer-associated coactivator p300 in the mouse heart, uncovering cardiac enhancers throughout the genome. Many of the enhancers colocalized with ion channel genes repressed by TBX3, including the clustered sodium channel genes Scn5a, essential for cardiac function, and Scn10a. We identified 2 enhancers in the Scn5a/Scn10a locus, which were regulated by TBX3 and its family member and activator, TBX5, and are functionally conserved in humans. We also provided evidence that a SNP in the SCN10A enhancer associated with alterations in cardiac conduction patterns in humans disrupts TBX3/TBX5 binding and reduces the cardiac activity of the enhancer in vivo."		'''Cardiac conduction system'''{{#pmid:22706305\|PMID22706305}} "Here, we assessed the genome-wide occupation of conduction system-regulating transcription factors TBX3, NKX2-5, and GATA4 and of enhancer-associated coactivator p300 in the mouse heart, uncovering cardiac enhancers throughout the genome. Many of the enhancers colocalized with ion channel genes repressed by TBX3, including the clustered sodium channel genes Scn5a, essential for cardiac function, and Scn10a. We identified 2 enhancers in the Scn5a/Scn10a locus, which were regulated by TBX3 and its family member and activator, TBX5, and are functionally conserved in humans. We also provided evidence that a SNP in the SCN10A enhancer associated with alterations in cardiac conduction patterns in humans disrupts TBX3/TBX5 binding and reduces the cardiac activity of the enhancer in vivo."

	==Gastrointestinal Development==		==Gastrointestinal Development==

	Tbx1 and Tbx2 genes regulate foregut and pharyngeal development. Mutations in Tbx1 gene are associated with the foregut abnormality of [[Gastrointestinal_Tract_-_Oesophagus_Development#Abnormalities\|oesophageal atresia with tracheo-oesophageal fistula]] (Q39.1).~~<ref name=~~PMID24356861~~><pubmed>24356861</pubmed></ref>~~		Tbx1 and Tbx2 genes regulate foregut and pharyngeal development. Mutations in Tbx1 gene are associated with the foregut abnormality of [[Gastrointestinal_Tract_-_Oesophagus_Development#Abnormalities\|oesophageal atresia with tracheo-oesophageal fistula]] (Q39.1).{{#pmid:24356861\|PMID24356861}}

	:'''Links:''' [[Gastrointestinal Tract Development]] \| [[Gastrointestinal_Tract_-_Oesophagus_Development#Abnormalities Oesophagus Abnormalities]] \| [https://www.omim.org/entry/602054 OMIM - TBX1]		:'''Links:''' [[Gastrointestinal Tract Development]] \| [[Gastrointestinal_Tract_-_Oesophagus_Development#Abnormalities Oesophagus Abnormalities]] \| [https://www.omim.org/entry/602054 OMIM - TBX1]
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	==Renal Development==		==Renal Development==

	Tbx18, Tbx1, Tbx2, Tbx3, and Tbx20 have various roles in renal development, see this recent review.~~<ref name=~~PMID28057266~~><pubmed>28057266</pubmed></ref>~~		Tbx18, Tbx1, Tbx2, Tbx3, and Tbx20 have various roles in renal development, see this recent review.{{#pmid:28057266\|PMID28057266}}

	* TBX18 mutations associated with kidney and urinary tract anomalies - hydroureter (ureter dilation) and ureteropelvic junction obstruction.		* TBX18 mutations associated with kidney and urinary tract anomalies - hydroureter (ureter dilation) and ureteropelvic junction obstruction.
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	===Reviews===		===Reviews===
	~~<pubmed>~~28057270~~<pubmed>~~		{{#pmid:28057270}}
	~~<pubmed>~~28057266~~</pubmed>~~
	~~<pubmed>~~17506689~~</pubmed>~~		{{#pmid:28057266}}
	~~<pubmed>~~10197584~~</pubmed>~~
			{{#pmid:17506689}}

			{{#pmid:10197584}}

	===Search Pubmed===		===Search Pubmed===