Publications:

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Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases

Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-03-21

Variant appearance in text: CFTR: 4357C>T; R1453W; rs4148725

PubMed Link: 35313924

Variant Present in the following documents:

• Main text
• 13023_2022_2279_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: CFTR: 4357C>T; Arg1453Trp; rs4148725

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 2
• mmc5.xlsx, sheet 1
• mmc5.xlsx, sheet 3

View BVdb publication page

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs4148725

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

View BVdb publication page

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Cholestasis in Benign Recurrent Intrahepatic Cholestasis 2.

Acg Case Reports Journal

Arthur Lorio, Eric E; Valadez, David D; Alkhouri, Naim N; Loo, Nicole N

Publication Date: 2020-06

Variant appearance in text: CFTR: R1453W

PubMed Link: 32647738

Variant Present in the following documents:

• ac9-7-e00412.pdf

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: CFTR: R1453W

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 13

View BVdb publication page

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The CFTR gene variants in Japanese children with idiopathic pancreatitis.

Human Genome Variation

Iso, Manami M; Suzuki, Mitsuyoshi M; Yanagi, Kumiko K; Minowa, Kei K; Sakurai, Yumiko Y; Nakano, Satoshi S; Satou, Kazuhito K; Shimizu, Toshiaki T; Kaname, Tadashi T

Publication Date: 2019

Variant appearance in text: CFTR: 4357C>T; Arg1453Trp; rs4148725

PubMed Link: 30992994

Variant Present in the following documents:

• Main text
• 41439_2019_Article_49.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs4148725

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: CFTR: R1453W

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs4148725

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CFTR: R1453W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men.

Human Molecular Genetics

Ni, Bixian B; Lin, Yuan Y; Sun, Liangdan L; Zhu, Meng M; Li, Zheng Z; Wang, Hui H; Yu, Jun J; Guo, Xuejiang X; Zuo, Xianbo X; Dong, Jing J; Xia, Yankai Y; Wen, Yang Y; Wu, Hao H; Li, Honggang H; Zhu, Yong Y; Ping, Ping P; Chen, Xiangfeng X; Dai, Juncheng J; Jiang, Yue Y; Xu, Peng P; Du, Qiang Q; Yao, Bing B; Weng, Ning N; Lu, Hui H; Wang, Zhuqing Z; Zhu, Xiaobin X; Yang, Xiaoyu X; Xiong, Chenliang C; Ma, Hongxia H; Jin, Guangfu G; Xu, Jianfeng J; Wang, Xinru X; Zhou, Zuomin Z; Liu, Jiayin J; Zhang, Xuejun X; Conrad, Donald F DF; Hu, Zhibin Z; Sha, Jiahao J

Publication Date: 2015-10-01

Variant appearance in text: rs4148725

PubMed Link: 26199320

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional characteristics of L1156F-CFTR associated with alcoholic chronic pancreatitis in Japanese.

American Journal Of Physiology. Gastrointestinal And Liver Physiology

Kondo, Shiho S; Fujiki, Kotoyo K; Ko, Shigeru B H SB; Yamamoto, Akiko A; Nakakuki, Miyuki M; Ito, Yasutomo Y; Shcheynikov, Nikolay N; Kitagawa, Motoji M; Naruse, Satoru S; Ishiguro, Hiroshi H

Publication Date: 2015-08-15

Variant appearance in text: CFTR: 4357C>T; R1453W

PubMed Link: 26089335

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of CFTR gene mutation with bronchial asthma.

The Indian Journal Of Medical Research

Maurya, Nutan N; Awasthi, Shally S; Dixit, Pratibha P

Publication Date: 2012-04

Variant appearance in text: CFTR: R1453W

PubMed Link: 22664493

Variant Present in the following documents:

• Main text
• IJMR-135-469.pdf

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Association between cystic fibrosis transmembrane conductance regulator gene mutations and susceptibility for childhood asthma in Korea.

Yonsei Medical Journal

Kim, Kyung Won KW; Lee, Ji Hyun JH; Lee, Min Goo MG; Kim, Kyung Hwan KH; Sohn, Myung Hyun MH; Kim, Kyu-Earn KE

Publication Date: 2010-11

Variant appearance in text: CFTR: R1453W

PubMed Link: 20879059

Variant Present in the following documents:

• ymj-51-912.pdf

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A novel computational and structural analysis of nsSNPs in CFTR gene.

Genomic Medicine

George Priya Doss, C C; Rajasekaran, R R; Sudandiradoss, C C; Ramanathan, K K; Purohit, R R; Sethumadhavan, R R

Publication Date: 2008-01

Variant appearance in text: CFTR: R1453W; rs4148725

PubMed Link: 18716917

Variant Present in the following documents:

• Main text

View BVdb publication page

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Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.

Journal Of Korean Medical Science

Koh, Won-Jung WJ; Ki, Chang-Seok CS; Kim, Jong-Won JW; Kim, Jeong-Ho JH; Lim, Seong Yong SY

Publication Date: 2006-06

Variant appearance in text: CFTR: 4357C>T

PubMed Link: 16778407

Variant Present in the following documents:

• jkms-21-563.pdf

View BVdb publication page

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