Identification of novel PKD1 mutations in two Chinese families with autosomal dominant polycystic kidney disease by targeted next generation sequencing

Qun Liu; Jun-Xia Ruan; Jing-Shu Zhang; Lu-Lu Zhang; Guang-Rong Qiu

doi:10.1097/cm9.0000000000000667

Identification of novel PKD1 mutations in two Chinese families with autosomal dominant polycystic kidney disease by targeted next generation sequencing

Chinese Medical Journal ◽

10.1097/cm9.0000000000000667 ◽

2020 ◽

Vol &NA; (6) ◽

pp. 738-740

Author(s):

Qun Liu ◽

Jun-Xia Ruan ◽

Jing-Shu Zhang ◽

Lu-Lu Zhang ◽

Guang-Rong Qiu

Keyword(s):

Next Generation Sequencing ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Next Generation ◽

Polycystic Kidney ◽

Chinese Families ◽

Targeted Next Generation Sequencing ◽

Autosomal Dominant Polycystic Kidney ◽

Generation Sequencing

Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation Sequencing

Kidney & Blood Pressure Research ◽

10.1159/000488471 ◽

2018 ◽

Vol 43 (2) ◽

pp. 471-478 ◽

Cited By ~ 3

Author(s):

Fariba Ranjzad ◽

Nasser Aghdami ◽

Ahmad Tara ◽

Marzieh Mohseni ◽

Reza Moghadasali ◽

...

Keyword(s):

Next Generation Sequencing ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Next Generation ◽

Polycystic Kidney ◽

Frameshift Mutations ◽

Targeted Next Generation Sequencing ◽

Autosomal Dominant Polycystic Kidney ◽

Generation Sequencing

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next‐generation sequencing

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.82 ◽

2014 ◽

Vol 2 (5) ◽

pp. 412-421 ◽

Cited By ~ 44

Author(s):

Daniel Trujillano ◽

Gemma Bullich ◽

Stephan Ossowski ◽

José Ballarín ◽

Roser Torra ◽

...

Keyword(s):

Next Generation Sequencing ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Next Generation ◽

Polycystic Kidney ◽

Targeted Next Generation Sequencing ◽

Autosomal Dominant Polycystic Kidney ◽

Generation Sequencing

VP32.15: Prenatal diagnosis of de novo autosomal dominant polycystic kidney disease by next‐generation sequencing

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.22818 ◽

2020 ◽

Vol 56 (S1) ◽

pp. 192-192

Author(s):

V. Borobio ◽

M. Perez‐Cruz ◽

L. Mañá ◽

J. Martínez ◽

E. Gratacós

Keyword(s):

Prenatal Diagnosis ◽

Next Generation Sequencing ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

De Novo ◽

Next Generation ◽

Polycystic Kidney ◽

Autosomal Dominant Polycystic Kidney ◽

Generation Sequencing

Next-generation sequencing for detection of somatic mosaicism in autosomal dominant polycystic kidney disease

Kidney International ◽

10.1016/j.kint.2019.11.019 ◽

2020 ◽

Vol 97 (2) ◽

pp. 261-263

Author(s):

Olivier Devuyst ◽

York Pei

Keyword(s):

Next Generation Sequencing ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Somatic Mosaicism ◽

Next Generation ◽

Polycystic Kidney ◽

Autosomal Dominant Polycystic Kidney ◽

Generation Sequencing

Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: Utility and limitations

Gene ◽

10.1016/j.gene.2012.12.060 ◽

2013 ◽

Vol 516 (1) ◽

pp. 93-100 ◽

Cited By ~ 27

Author(s):

Xiao-Ping Qi ◽

Zhen-Fang Du ◽

Ju-Ming Ma ◽

Xiao-Ling Chen ◽

Qing Zhang ◽

...

Keyword(s):

Next Generation Sequencing ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Genetic Diagnosis ◽

Next Generation ◽

Polycystic Kidney ◽

Targeted Capture ◽

Autosomal Dominant Polycystic Kidney ◽

Generation Sequencing

Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing

Clinica Chimica Acta ◽

10.1016/j.cca.2014.02.011 ◽

2014 ◽

Vol 433 ◽

pp. 12-19 ◽

Cited By ~ 12

Author(s):

Tao Yang ◽

Yan Meng ◽

Xiaoming Wei ◽

Jiandong Shen ◽

Mingrong Zhang ◽

...

Keyword(s):

Next Generation Sequencing ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Chinese Patients ◽

Polycystic Kidney ◽

Novel Mutations ◽

Targeted Next Generation Sequencing ◽

Autosomal Dominant Polycystic Kidney ◽

Generation Sequencing

Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients

Clinical and Experimental Nephrology ◽

10.1007/s10157-019-01736-3 ◽

2019 ◽

Vol 23 (8) ◽

pp. 1022-1030 ◽

Cited By ~ 3

Author(s):

Toshio Mochizuki ◽

Atsuko Teraoka ◽

Hiroyuki Akagawa ◽

Shiho Makabe ◽

Taro Akihisa ◽

...

Keyword(s):

Next Generation Sequencing ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Next Generation ◽

Polycystic Kidney ◽

Autosomal Dominant Polycystic Kidney ◽

Generation Sequencing ◽

Mutation Analyses ◽

Dependent Probe

Molecular Diagnosis of Autosomal Dominant Polycystic Kidney Disease Using Next-Generation Sequencing

Journal of Molecular Diagnostics ◽

10.1016/j.jmoldx.2013.10.005 ◽

2014 ◽

Vol 16 (2) ◽

pp. 216-228 ◽

Cited By ~ 33

Author(s):

Adrian Y. Tan ◽

Alber Michaeel ◽

Genyan Liu ◽

Olivier Elemento ◽

Jon Blumenfeld ◽

...

Keyword(s):

Next Generation Sequencing ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Molecular Diagnosis ◽

Autosomal Dominant ◽

Next Generation ◽

Polycystic Kidney ◽

Autosomal Dominant Polycystic Kidney ◽

Generation Sequencing

Validation of the Autosomal Dominant Polycystic Kidney Disease Molecular Diagnosis by Next Generation Sequencing technology

Giornale di Techniche Nefrologiche e Dialitiche ◽

10.5301/gtnd.2016.16054 ◽

2016 ◽

Vol 28 (3) ◽

pp. 228-231

Author(s):

Francesca Ferrari ◽

Silvana Tedeschi ◽

Roberta Cerutti ◽

Piergiorgio Messa ◽

Manuela Seia

Keyword(s):

Next Generation Sequencing ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Molecular Diagnosis ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Sequencing Technology ◽

Next Generation Sequencing Technology ◽

Autosomal Dominant Polycystic Kidney ◽

Generation Sequencing

Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System

PLoS ONE ◽

10.1371/journal.pone.0166288 ◽

2016 ◽

Vol 11 (11) ◽

pp. e0166288 ◽

Cited By ~ 13

Author(s):

Moritoshi Kinoshita ◽

Eiji Higashihara ◽

Haruna Kawano ◽

Ryo Higashiyama ◽

Daisuke Koga ◽

...

Keyword(s):

Next Generation Sequencing ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Classification System ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

New Classification ◽

Technical Evaluation ◽

Autosomal Dominant Polycystic Kidney ◽

Generation Sequencing