Computational investigation of a novel uromodulin gene mutation (p.Y286C) in a family with autosomal dominant tubulointerstitial renal disease: A case study-Reference-Cited by-同舟云学术

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Computational investigation of a novel uromodulin gene mutation (p.Y286C) in a family with autosomal dominant tubulointerstitial renal disease: A case study

Published:2023-09 Issue: Volume:37 Page:201203
ISSN:2773-0441
Container-title:Human Gene
language:en
Short-container-title:Human Gene

Author:

Medina Cristina Touguinha Neves,de Alencar Sérgio Amorim,Nascimento Daniela Pimenta,Pogue Robert

Funder

Fundação de Apoio à Pesquisa do Distrito Federal

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference55 articles.

1. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Curr. Protoc. Hum. Genet.,2013

2. The SAAP pipeline and database: tools to analyze the impact and predict the pathogenicity of mutations;Al-Numair;BMC Genomics,2013

3. Discriminative modelling of context-specific amino acid substitution probabilities;Angermüller;Bioinformatics (Oxford, England),2012

4. ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules;Ashkenazy;Nucleic Acids Res.,2016

5. Autosomal dominant tubulointerstitial kidney disease: clinical presentation of patients with ADTKD-UMOD and ADTKD-MUC1;Ayasreh;Am. J. Kidney Dis.,2018

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