Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. - Wikidata - wikimedia - TriplyDB

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

http://www.wikidata.org/entity/Q36580744

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An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.Genetic causes of congenital diaphragmatic hernia Mesenchymal expression of the FRAS1/FREM2 gene unit is decreased in the developing fetal diaphragm of nitrofen-induced congenital diaphragmatic hernia.Decreased Desmin expression in the developing diaphragm of the nitrofen-induced congenital diaphragmatic hernia rat model.Pulmonary vascular development goes awry in congenital lung abnormalities.Laparoscopic repair of a late-presenting Bochdalek diaphragmatic hernia with acute gastric volvulus.Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia.FBN1 contributing to familial congenital diaphragmatic hernia.Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects

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P2860

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

http://www.wikidata.org/entity/Q36580744

description

2012 nî lūn-bûn

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Deficiency of FRAS1-related ex ...... tic hernia in humans and mice.

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Deficiency of FRAS1-related ex ...... tic hernia in humans and mice.

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Deficiency of FRAS1-related ex ...... tic hernia in humans and mice.

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Deficiency of FRAS1-related ex ...... tic hernia in humans and mice.

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Deficiency of FRAS1-related ex ...... tic hernia in humans and mice.

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Deficiency of FRAS1-related ex ...... tic hernia in humans and mice.

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Human Molecular Genetics

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Deficiency of FRAS1-related ex ...... atic hernia in humans and mice

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Annelies de Klein

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Brendan Lee

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Bum Jun Kim

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Danielle Veenma

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Daryl A Scott

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David W Stockton

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Hannie Douben

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Hitisha P Zaveri

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Monica J Justice

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Oleg A Shchelochkov

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P2860

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis

CDD: a Conserved Domain Database for the functional annotation of proteins

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs

Mutations in GRIP1 cause Fraser syndrome

Congenital diaphragmatic hernia, kidney agenesis and cardiac defects associated with Slit3-deficiency in mice

Malformation syndromes: a review of mouse/human homology

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1026-1038

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10.1093/HMG/DDS507

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5

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22

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2012-12-05T00:00:00Z

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233879909

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23221805

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P921

extracellular matrix

congenital diaphragmatic hernia

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3561915

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