Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. (Q34323559)

1 August 2017

title

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. (English)

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spondylocostal dysostosis

1 August 2017

main subject

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5

Mhairi Marshall

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Deborah L Chapman

Deborah L Chapman

7

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Emma L. Duncan

Emma L Duncan

11

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Duncan B. Sparrow

Duncan B Sparrow

1

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Sally L. Dunwoodie

Sally L Dunwoodie

12

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Matthew A. Brown

Matthew A Brown

10

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Aideen M McInerney-Leo

2

Aideen McInerney-Leo

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1 August 2017

Zoran S Gucev

3

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1 August 2017

Brooke Gardiner

4

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1 August 2017

Paul J Leo

6

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1 August 2017

Velibor Tasic

8

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1 August 2017

Abduhadi Shishko

9

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1 August 2017

publication date

17 January 2013

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1 August 2017

published in

Human Molecular Genetics

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1 August 2017

volume

22

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1 August 2017

issue

8

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1 August 2017

page(s)

1625-1631

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Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans

1 August 2017

cites work

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The mouse notches up another success: understanding the causes of human vertebral malformation.

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Vertebrate segmentation: from cyclic gene networks to scoliosis

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Identification of oscillatory genes in somitogenesis from functional genomic analysis of a human mesenchymal stem cell model

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Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

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Mutated MESP2 causes spondylocostal dysostosis in humans

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Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype

21 January 2018

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Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis

21 January 2018

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Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome

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Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism

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Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

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Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies

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A mechanism for gene-environment interaction in the etiology of congenital scoliosis.

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Distribution and intensity of constraint in mammalian genomic sequence

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Tbx6, a mouse T-Box gene implicated in paraxial mesoderm formation at gastrulation

21 January 2018

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Three neural tubes in mouse embryos with mutations in the T-box gene Tbx6

21 January 2018

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Tbx24, encoding a T-box protein, is mutated in the zebrafish somite-segmentation mutant fused somites

21 January 2018

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Fss/Tbx6 is required for central dermomyotome cell fate in zebrafish

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Dll1 is a downstream target of Tbx6 in the paraxial mesoderm

21 January 2018

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WNT signaling, in synergy with T/TBX6, controls Notch signaling by regulating Dll1 expression in the presomitic mesoderm of mouse embryos

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Tbx6-mediated Notch signaling controls somite-specific Mesp2 expression

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Functional importance of evolutionally conserved Tbx6 binding sites in the presomitic mesoderm-specific enhancer of Mesp2.

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Wnt3a/beta-catenin signaling controls posterior body development by coordinating mesoderm formation and segmentation

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Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

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Exome sequencing identifies ZNF644 mutations in high myopia

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VPS35 mutations in Parkinson disease

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TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

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Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

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A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

21 January 2018

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A survey of sequence alignment algorithms for next-generation sequencing

21 January 2018

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Direct repeats as selective response elements for the thyroid hormone, retinoic acid, and vitamin D3 receptors

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Plasticity of the differentiated state

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Serial passaging and differentiation of myogenic cells isolated from dystrophic mouse muscle

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDT012

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1 August 2017

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