Article

Identification and validation of novel candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas

2021-07-22

Abstract excerpt

Esophageal atresias/tracheoesophageal fistulas (EA/TEF) are rare congenital anomalies caused by aberrant development of the foregut. Previous studies indicate that rare or de novo genetic variants significantly contribute to EA/TEF risk, and most individuals with EA/TEF do not have pathogenic genetic variants in established risk genes. To identify novel genetic contributions to EA/TEF, we performed whole genome se...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4c254af4-8112-584b-abac-9c4c3466384b
DOI: 10.1101/2021.07.18.21260699

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Identification and validation of novel candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulasDOI 10.1101/2021.07.18.21260699Read

Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing.Semantic proximity Read

Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in Xenopus trachea-esophageal morphogenesis.Semantic proximity Read

Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in trachea-esophageal morphogenesisSemantic proximity Read

Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiologySemantic proximity Read

Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".Semantic proximity Read

Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants.Semantic proximity Read

Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing.Semantic proximity Read

Cargos and genes: insights into vesicular transport from inherited human disease.Semantic proximity Read

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plusSemantic proximity Read

Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology.Semantic proximity Read

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy.Semantic proximity Read

iPSCs derived from esophageal atresia patients reveal SOX2 dysregulation at the anterior foregut stageSemantic proximity Read