Associated Papers
SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation.
Huang N et al.
Human Molecular Genetics, 2024
Biallelic variants of the first Kunitz domain of SPINT2 cause a non-syndromic form of congenital diarrhea and tufting enteropathy.
Al Rawahi Y et al.
American Journal of Medical Genetics. Part A, 2024
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
A novel SPINT2 missense mutation causes syndromic congenital sodium diarrhea.
Zhang XX et al.
World Journal of Pediatrics : Wjp, 2022
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
Expansion of the ophthalmic phenotype of SPINT2-related syndromic congenital sodium diarrhea.
Ernst J et al.
American Journal of Medical Genetics. Part A, 2021
Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes.
Haug P et al.
Genes, 2021
Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome.
Cai C et al.
Gastroenterology Research and Practice, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.
Holt-Danborg L et al.
Human Molecular Genetics, 2019
Hepatocyte growth factor activator inhibitor-2 stabilizes Epcam and maintains epithelial organization in the mouse intestine.
Kawaguchi M et al.
Communications Biology, 2019
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).
Hirabayashi KE et al.
American Journal of Medical Genetics. Part A, 2018
Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely.
Niederwanger C et al.
European Journal of Medical Research, 2018
Syndromic congenital diarrhoea: new SPINT2 mutation identified in the UAE.
Bou Chaaya S et al.
Bmj Case Reports, 2017
HAI-2 stabilizes, inhibits and regulates SEA-cleavage-dependent secretory transport of matriptase.
Nonboe AW et al.
Traffic (copenhagen, Denmark), 2017
Matriptase-mediated cleavage of EpCAM destabilizes claudins and dysregulates intestinal epithelial homeostasis.
Wu CJ et al.
The Journal of Clinical Investigation, 2017
Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease.
Janecke AR et al.
Journal of Pediatric Gastroenterology and Nutrition, 2016
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
Genetic analysis of Italian patients with congenital tufting enteropathy.
d'Apolito M et al.
World Journal of Pediatrics : Wjp, 2016
The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders.
Overeem AW et al.
Disease Models & Mechanisms, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Salomon J et al.
Human Genetics, 2014
Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea.
Faller N et al.
Plos One, 2014
Syndromic congenital diarrhea because of the SPINT2 mutation showing enterocyte tufting and unique electron microscopy findings.
Slae MA et al.
Clinical Dysmorphology, 2013
Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea.
Sivagnanam M et al.
Clinical Dysmorphology, 2010
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
Heinz-Erian P et al.
American Journal of Human Genetics, 2009