Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD-Reference-Cited by-同舟云学术

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Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD

Published:2019-02-28 Issue:5 Volume:64 Page:409-419
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Pandita Shewata^ORCID,Ramachandran Vijaya,Balakrishnan Prahlad^ORCID,Rolfs Arndt,Brandau Oliver,Eichler Sabrina,Bhalla Anil Kumar,Khullar Dinesh,Amitabh Vindu,Ramanarayanan Sivaramakrishnan,Kher Vijay,Verma Jyotsna,Kohli Sudha,Saxena Renu,Verma Ishwar Chander

Funder

Indian Council of Medical Research

Partial financial support was also provided by Ganga Ram Institute of Postgraduate Medical Education and Research (GRIPMER) (RDB project no: 4.9.14).

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-019-0582-8.pdf

Reference51 articles.

1. Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet. 2007;369:1287–301.

2. Torres VE, Harris PC. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int. 2009;76:149–68.

3. Rajapurkar MM, John GT, Kirpalani AL, Abraham G, Agarwal SK, Almeida AF, et al. What do we know about chronic kidney disease in India: first report of the Indian CKD registry. BMC Nephrol. 2012;13:10.

4. Spithoven EM, Kramer A, Meijer E, Orskov B, Wanner C, Caskey F, et al. Analysis of data from the ERA-EDTA Registry indicates that conventional treatments for chronic kidney disease do not reduce the need for renal replacement therapy in autosomal dominant polycystic kidney disease. Kidney Int. 2014;86:1244–52.

5. Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, Millan JLS, et al. The polycystic kidneydisease1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet. 1995;10:151–60.

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1. Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles;Genes;2023-06-07

2. Pedigree Analysis of Polycystic Kidney Disease Patients: Bangladeshi Perspective;Indian Journal of Nephrology;2023

3. Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes;Genetics in Medicine;2020-08

4. Mutational screening of PKD1 and PKD2 in Indian ADPKD patients identified 95 genetic variants;Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis;2020-05

5. Genetic Testing in Pediatric Kidney Disease;The Indian Journal of Pediatrics;2020-02-13

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