Publications:

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The Association between CFTR Gene Mutation Heterozygosity and Asthma Development: A Systematic Review.

Journal Of Clinical Medicine

Koumpagioti, Despoina D; Moriki, Dafni D; Boutopoulou, Barbara B; Matziou, Vasiliki V; Loukou, Ioanna I; Priftis, Kostas N KN; Douros, Konstantinos K

Publication Date: 2023-03-21

Variant appearance in text: CFTR: Q1352H

PubMed Link: 36983403

Variant Present in the following documents:

• Main text
• jcm-12-02403.pdf

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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: Q1352H

PubMed Link: 35313924

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2279.pdf

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Host-Pathogen Interactions Operative during Mycobacteroides abscessus Infection.

Immune Network

Park, Eun-Jin EJ; Silwal, Prashanta P; Jo, Eun-Kyeong EK

Publication Date: 2021-12

Variant appearance in text: CFTR: Q1352H

PubMed Link: 35036027

Variant Present in the following documents:

• in-21-e40.pdf

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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: rs113857788

PubMed Link: 34541464

Variant Present in the following documents:

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

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: CFTR: 4056G>T; Gln1352His; rs113857788

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: rs113857788

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s010.xlsx, sheet 1

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Genetic Abnormalities in Pancreatitis: An Update on Diagnosis, Clinical Features, and Treatment.

Diagnostics (Basel, Switzerland)

Suzuki, Mitsuyoshi M; Minowa, Kei K; Nakano, Satoshi S; Isayama, Hiroyuki H; Shimizu, Toshiaki T

Publication Date: 2020-12-26

Variant appearance in text: CFTR: Q1352H

PubMed Link: 33375361

Variant Present in the following documents:

• Main text
• diagnostics-11-00031.pdf

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Genetics of the congenital absence of the vas deferens.

Human Genetics

Bieth, Eric E; Hamdi, Safouane M SM; Mieusset, Roger R

Publication Date: 2021-01

Variant appearance in text: CFTR: Q1352H

PubMed Link: 32025909

Variant Present in the following documents:

• Main text
• 439_2020_Article_2122.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: CFTR: 4056G>T; Q1352H

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Epidemiology of Pulmonary Nontuberculous Mycobacterial Sputum Positivity in Patients with Cystic Fibrosis in the United States, 2010-2014.

Annals Of The American Thoracic Society

Adjemian, Jennifer J; Olivier, Kenneth N KN; Prevots, D Rebecca DR

Publication Date: 2018-07

Variant appearance in text: N/A

PubMed Link: 29897781

Variant Present in the following documents:

View BVdb publication page

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Pathogen Box screening for hit identification against Mycobacterium abscessus.

Plos One

Jeong, Jinsun J; Kim, Guehye G; Moon, Cheol C; Kim, Hyun Jung HJ; Kim, Tae Ho TH; Jang, Jichan J

Publication Date: 2018

Variant appearance in text: CFTR: Q1352H

PubMed Link: 29698397

Variant Present in the following documents:

• Main text
• pone.0195595.pdf

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Metal stents placement for refractory pancreatic duct stricture in children.

World Journal Of Gastroenterology

Jeong, In Sook IS; Lee, Sung Hee SH; Oh, Seak Hee SH; Park, Do Hyun DH; Kim, Kyung Mo KM

Publication Date: 2018-01-21

Variant appearance in text: CFTR: Gln1352His

PubMed Link: 29391763

Variant Present in the following documents:

• Main text
• WJG-24-408.pdf

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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: rs113857788

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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Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

Andrology

de Souza, D A S DAS; Faucz, F R FR; Pereira-Ferrari, L L; Sotomaior, V S VS; Raskin, S S

Publication Date: 2018-01

Variant appearance in text: CFTR: 4056G>T; Q1352H

PubMed Link: 29216686

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: N/A

PubMed Link: 29088863

Variant Present in the following documents:

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The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes.

Familial Cancer

Slavin, Thomas P TP; Neuhausen, Susan L SL; Nehoray, Bita B; Niell-Swiller, Mariana M; Solomon, Ilana I; Rybak, Christina C; Blazer, Kathleen K; Adamson, Aaron A; Yang, Kai K; Sand, Sharon S; Guerrero-Llamas, Nancy N; Castillo, Danielle D; Herzog, Josef J; Wu, Xiwei X; Tao, Shu S; Raja, Shivali S; Chung, Vincent V; Singh, Gagandeep G; Nadesan, Sue S; Brown, Sandra S; Cruz-Correa, Marcia M; Petersen, Gloria M GM; Weitzel, Jeffrey J; ,

Publication Date: 2018-04

Variant appearance in text: N/A

PubMed Link: 28687971

Variant Present in the following documents:

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW

Publication Date: 2017-12

Variant appearance in text: N/A

PubMed Link: 28471432

Variant Present in the following documents:

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PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis.

Annals Of Laboratory Medicine

Cho, Sun Mi SM; Shin, Saeam S; Lee, Kyung A KA

Publication Date: 2016-11

Variant appearance in text: CFTR: Q1352H

PubMed Link: 27578509

Variant Present in the following documents:

• alm-36-555.pdf

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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: Q1352H

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: CFTR: Q1352H

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

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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: N/A

PubMed Link: 26199320

Variant Present in the following documents:

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Erratum: Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.

Annals Of Laboratory Medicine

Publication Date: 2015-01

Variant appearance in text: CFTR: Q1352H

PubMed Link: 25553309

Variant Present in the following documents:

• alm-35-185.pdf

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ATP and AMP mutually influence their interaction with the ATP-binding cassette (ABC) adenylate kinase cystic fibrosis transmembrane conductance regulator (CFTR) at separate binding sites.

The Journal Of Biological Chemistry

Randak, Christoph O CO; Dong, Qian Q; Ver Heul, Amanda R AR; Elcock, Adrian H AH; Welsh, Michael J MJ

Publication Date: 2013-09-20

Variant appearance in text: CFTR: Q1352H

PubMed Link: 23921386

Variant Present in the following documents:

• Main text
• zbc27692.pdf

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Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.

The Korean Journal Of Laboratory Medicine

Jung, Haiyoung H; Ki, Chang-Seok CS; Koh, Won-Jung WJ; Ahn, Kang-Mo KM; Lee, Sang-Il SI; Kim, Jeong-Ho JH; Ko, Jae Sung JS; Seo, Jeong Kee JK; Cha, Seung-Ick SI; Lee, Eun-Sil ES; Kim, Jong-Won JW

Publication Date: 2011-07

Variant appearance in text: CFTR: Q1352H

PubMed Link: 21779199

Variant Present in the following documents:

• Main text
• kjlm-31-219.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: Q1352H

PubMed Link: 20879059

Variant Present in the following documents:

• Main text
• ymj-51-912.pdf

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Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.

Journal Of Korean Medical Science

Ahn, Kang Mo KM; Park, Hwa Young HY; Lee, Ji Hyun JH; Lee, Min Goo MG; Kim, Jeong Ho JH; Kang, Im Ju IJ; Lee, Sang Il SI

Publication Date: 2005-02

Variant appearance in text: CFTR: Q1352H

PubMed Link: 15716623

Variant Present in the following documents:

• jkms-20-153.pdf

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