Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome (Q24311600)

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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13

J G Seidman

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author name string

C T Basson

1

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D R Bachinsky

2

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R C Lin

3

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T Levi

4

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J A Elkins

5

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J Soults

6

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D Grayzel

7

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E Kroumpouzou

8

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T A Traill

9

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J Leblanc-Straceski

10

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B Renault

11

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R Kucherlapati

12

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C E Seidman

Mouse mutants and cardiac development: new molecular insights into cardiogenesis

14

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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)

30-5

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cites work

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Genetic heterogeneity of heart-hand syndromes

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The wingless signaling pathway is directly involved in Drosophila heart development

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A molecular pathway determining left-right asymmetry in chick embryogenesis

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Mechanisms of cell transformation in the embryonic heart.

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

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Familial heart disease with skeletal malformations

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The Holt-Oram syndrome

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Cross-sectional echocardiographic imaging of supracardiac total anomalous pulmonary venous drainage to a vertical vein in a patient with Holt-Oram syndrome

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Upper-limb cardiovascular syndrome. A family study

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Holt-Oram syndrome in China: a collective review of 18 cases

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

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

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Twenty-one polymorphic markers from human chromosome 12 for integration of genetic and physical maps

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Exon amplification: a strategy to isolate mammalian genes based on RNA splicing

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

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

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

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

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The T genes in embryogenesis.

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

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

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Interpreting cDNA sequences: some insights from studies on translation

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Direct and long-range action of a DPP morphogen gradient.

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Rapid sequential walking from termini of cosmid, P1 and YAC inserts

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Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

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