Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene-Reference-Cited by-同舟云学术

Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene

Published:2018-09 Issue: Volume:671 Page:28-35
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Abdelwahed Mayssa^ORCID,Hilbert Pascale,Ahmed Asma,Mahfoudh Hichem,Bouomrani Salem,Dey Mouna,Hachicha Jamil,Kamoun Hassen,Keskes-Ammar Leila,Belguith Neïla

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference33 articles.

1. A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes;Ariza;J. Med. Genet.,1997

2. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients;Audrézet;Hum. Mutat.,2012

3. Polycystin-1 induces resistance to apoptosis through the phosphatidylinositol 3-kinase/Akt signaling pathway;Boca;J. Am. Soc. Nephrol.,2006

4. I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure;Capriotti;Nucleic Acids Res.,2005

5. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome;Consugar;Kidney Int.,2008

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2. Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools;Gene;2022-04

3. Detection of a novel mutation in a Tunisian child with polycystic kidney disease;IUBMB Life;2020-05-30

4. Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease;Molecular Medicine Reports;2019-01-31