Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family (Q24311501)

GOA release 2020-03-11

forelimb morphogenesis

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GOA release 2020-03-11

T-box 5

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GOA release 2020-03-11

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S Lyonnet

12

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author name string

Q Y Li

1

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R A Newbury-Ecob

2

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J A Terrett

3

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D I Wilson

4

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A R Curtis

5

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C H Yi

6

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T Gebuhr

7

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P J Bullen

8

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S C Robson

9

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T Strachan

10

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D Bonnet

11

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I D Young

13

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J A Raeburn

14

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A J Buckler

15

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D J Law

16

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J D Brook

https://scigraph.springernature.com/pub.10.1038/ng0197-21

17

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language of work or name

English

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publication date

January 1997

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published in

Nature Genetics

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volume

15

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issue

1

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page(s)

21-9

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exact match

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cites work

Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4

1 reference

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

20 April 2017

1 reference

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

20 April 2017

1 reference

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

20 April 2017

1 reference

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

20 April 2017

1 reference

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

20 April 2017

1 reference

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

20 April 2017

1 reference

Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q

20 April 2017

1 reference

An analysis of vertebrate mRNA sequences: intimations of translational control

20 April 2017

1 reference

Cloning of the T gene required in mesoderm formation in the mouse

20 April 2017

1 reference

An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus

20 April 2017

1 reference

Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida

20 April 2017

1 reference

T-brain-1: a homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral cortex

20 April 2017

1 reference

Cloning and mapping of a human gene (TBX2) sharing a highly conserved protein motif with the Drosophila omb gene

20 April 2017

1 reference

Sex reversal by loss of the C-terminal transactivation domain of human SOX9

20 April 2017

1 reference

Mapping a gene for Noonan syndrome to the long arm of chromosome 12

20 April 2017

1 reference

The 1993-94 Généthon human genetic linkage map

20 April 2017

1 reference

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

20 April 2017

1 reference

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

21 January 2018

1 reference

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

21 January 2018

1 reference

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

21 January 2018

1 reference

Mechanisms of limb patterning.

21 January 2018

1 reference

Limbs: a model for pattern formation within the vertebrate body plan

21 January 2018

1 reference

Developmental genetics of the heart

21 January 2018

1 reference

Vertebrate heart development

21 January 2018

1 reference

A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12

21 January 2018

1 reference

The T genes in embryogenesis.

21 January 2018

1 reference

Injected Xwnt-8 RNA acts early in Xenopus embryos to promote formation of a vegetal dorsalizing center

21 January 2018

1 reference

Conservation of the T-box gene family from Mus musculus to Caenorhabditis elegans

21 January 2018

1 reference

Evidence of a role for T-box genes in the evolution of limb morphogenesis and the specification of forelimb/hindlimb identity

21 January 2018

1 reference

A first-generation physical map of the human genome

21 January 2018

1 reference

A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

21 January 2018

1 reference

Getting started with yeast

21 January 2018

1 reference

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification.

21 January 2018

1 reference

The identification of exons from the MED/PSACH region of human chromosome 19.

21 January 2018

1 reference

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

21 January 2018

1 reference

7 January 2021

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

1 reference

7 January 2021

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

1 reference

7 January 2021

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor

1 reference

7 January 2021

Do we understand development?

1 reference

7 January 2021

Vertebrate limb development

1 reference

7 January 2021

The initiation of the limb bud: growth factors, Hox genes, and retinoids

1 reference

7 January 2021

Molecular pathways controlling heart development

1 reference

7 January 2021

Familial heart disease with skeletal malformations

1 reference

7 January 2021

The Holt-Oram syndrome

1 reference

7 January 2021

Heart-hand syndrome II. A report of Tabatznik syndrome with new findings

1 reference

7 January 2021

Heart-hand syndrome. III. A new syndrome in three generations

1 reference

7 January 2021

Holt-Oram syndrome: a clinical genetic study

1 reference

7 January 2021

The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome)

1 reference

7 January 2021

cDNA libraries from human tissues and cell lines

1 reference

7 January 2021

The mouse Brachyury gene and mesoderm formation

1 reference

7 January 2021

The T protein encoded by Brachyury is a tissue-specific transcription factor

1 reference

7 January 2021

The human homolog T of the mouse T(Brachyury) gene; gene structure, cDNA sequence, and assignment to chromosome 6q27

1 reference

7 January 2021

Expression of a xenopus homolog of Brachyury (T) is an immediate-early response to mesoderm induction

1 reference

7 January 2021

Induction of muscle pioneers and floor plate is distinguished by the zebrafish no tail mutation

1 reference

7 January 2021

The lethal(1)optomotor-blind gene of Drosophila melanogaster is a major organizer of optic lobe development: isolation and characterization of the gene

1 reference

7 January 2021

A homology domain shared between Drosophila optomotor-blind and mouse Brachyury is involved in DNA binding

1 reference

7 January 2021

Identification, characterization, and localization to chromosome 17q21-22 of the human TBX2 homolog, member of a conserved developmental gene family

1 reference

7 January 2021

The Brachyury gene encodes a novel DNA binding protein

1 reference

7 January 2021

Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development.

1 reference

7 January 2021

Bone morphogenetic protein-4 is required for mesoderm formation and patterning in the mouse

1 reference

7 January 2021

Control of the gene optomotor-blind in Drosophila wing development by decapentaplegic and wingless.

1 reference

7 January 2021

A gene for ulnar-mammary syndrome maps to 12q23-q24.1.

1 reference

7 January 2021

Isolation of human simple repeat loci by hybridization selection.

1 reference

7 January 2021

Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources

1 reference

7 January 2021

A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones

1 reference

7 January 2021

Generation and fluorescent in situ hybridization mapping of yeast artificial chromosomes of 1p, 17p, 17q, and 19q from a hybrid cell line by high-density screening of an amplified library

1 reference

7 January 2021

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

7 January 2021

First-trimester fetal necropsy after ultrasound-guided aspiration

1 reference

7 January 2021

Induction of abortion with mifepristone (RU 486) and oral or vaginal misoprostol

1 reference

7 January 2021

Practical aspects of radio-isotopic in situ hybridization on RNA.

1 reference

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

7 January 2021