Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome (Q34239845)

31 July 2017

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome (English)

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Jean-Laurent Casanova

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Valérie Cormier-Daire

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Valérie Cormier-Daire

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Carine Le Goff

Carine Le Goff

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Wilfried le Goff

Wilfried Le Goff

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Alain Verloes

Alain Verloes

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Alexandra Afenjar

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Delphine Héron

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Sandrine Marlin

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Avinash Abhyankar

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Valérie Serre

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31 July 2017

Clémentine Mahaut

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Anne Destrée

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Maja di Rocco

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Sébastien Jacquemont

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Marleen Simon

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John Tolmie

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31 July 2017

language of work or name

English

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publication date

11 December 2011

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85-88

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https://scigraph.springernature.com/pub.10.1038/ng.1016

31 July 2017

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cites work

Myhre syndrome: new reports, review, and differential diagnosis.

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Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome

21 January 2018

1 reference

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

21 January 2018

1 reference

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

21 January 2018

1 reference

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

21 January 2018

1 reference

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

21 January 2018

1 reference

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

21 January 2018

1 reference

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

21 January 2018

1 reference

How the Smads regulate transcription

21 January 2018

1 reference

Mechanisms of TGF-beta signaling from cell membrane to the nucleus

21 January 2018

1 reference

The tumor suppressor gene Smad4/Dpc4 is required for gastrulation and later for anterior development of the mouse embryo

21 January 2018

1 reference

Chondrocyte-specific Smad4 gene conditional knockout results in hearing loss and inner ear malformation in mice.

21 January 2018

1 reference

Smad4 is required for maintaining normal murine postnatal bone homeostasis

21 January 2018

1 reference

Mutations in the SMAD4/DPC4 gene in juvenile polyposis

21 January 2018

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DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1

21 January 2018

1 reference

Gene therapy for pancreatic cancer based on genetic characterization of the disease

21 January 2018

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The oncoprotein Evi-1 represses TGF-beta signalling by inhibiting Smad3

21 January 2018

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Mutations in the tumor suppressors Smad2 and Smad4 inactivate transforming growth factor beta signaling by targeting Smads to the ubiquitin-proteasome pathway

21 January 2018

1 reference

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

21 January 2018

1 reference

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

The Sequence Alignment/Map format and SAMtools

21 January 2018

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Stimulation of cholesterol efflux by LXR agonists in cholesterol-loaded human macrophages is ABCA1-dependent but ABCG1-independent

21 January 2018

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Smad4 is required for the normal organization of the cartilage growth plate

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22158539

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A new growth deficiency syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22158539

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

DPC4 gene in various tumor types

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22158539

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.1016

1 reference

31 July 2017

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