Publications:

---

The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.

International Journal Of Molecular Sciences

Makarova, Maria M; Nemtsova, Marina M; Danishevich, Anastasiia A; Chernevskiy, Denis D; Belenikin, Maxim M; Krinitsina, Anastasiia A; Baranova, Elena E; Sagaydak, Olesya O; Vorontsova, Maria M; Khatkov, Igor I; Zhukova, Lyudmila L; Bodunova, Natalia N; Nikolaev, Sergey S; Byakhova, Mariya M; Semenova, Anna A; Galkin, Vsevolod V; Gadzhieva, Saida S

Publication Date: 2023-04-27

Variant appearance in text: CFTR: 2374C>T; Arg792Ter; rs145449046

PubMed Link: 37175647

Variant Present in the following documents:

• ijms-24-07940.pdf

View BVdb publication page

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CFTR: 2374C>T; Arg792Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Journal Of Medical Genetics

Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S

Publication Date: 2022-07-20

Variant appearance in text: CFTR: 2374C>T; Arg792X

PubMed Link: 35858753

Variant Present in the following documents:

• jmg-2022-108501supp001.pdf

View BVdb publication page

---

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: 2374C>T; Arg792Ter

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research

Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C

Publication Date: 2021-12

Variant appearance in text: CFTR: R792X

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.pdf

View BVdb publication page

---

Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research

Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C

Publication Date: 2021-12

Variant appearance in text: CFTR: R792X

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.pdf

View BVdb publication page

---

Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs145449046

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine

Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J

Publication Date: 2021-09

Variant appearance in text: CFTR: 2374C>T

PubMed Link: 34557648

Variant Present in the following documents:

• Main text
• AME2-4-220.pdf

View BVdb publication page

---

A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine

Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J

Publication Date: 2021-09

Variant appearance in text: CFTR: 2374C>T

PubMed Link: 34557648

Variant Present in the following documents:

• Main text
• AME2-4-220.pdf

View BVdb publication page

---

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: rs145449046

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

---

Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome.

Erj Open Research

Zampoli, Marco M; Verstraete, Janine J; Frauendorf, Marlize M; Kassanjee, Reshma R; Workman, Lesley L; Morrow, Brenda M BM; Zar, Heather J HJ

Publication Date: 2021-07

Variant appearance in text: CFTR: 2374C>T; R792X

PubMed Link: 34350279

Variant Present in the following documents:

• 00856-2020.supplement.pdf

View BVdb publication page

---

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: 2374C>T; Arg792Ter; rs145449046

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies.

International Journal Of Neonatal Screening

Marcão, Ana A; Barreto, Celeste C; Pereira, Luísa L; Vaz, Luísa Guedes LG; Cavaco, José J; Casimiro, Ana A; Félix, Miguel M; Silva, Teresa Reis TR; Barbosa, Telma T; Freitas, Cristina C; Nunes, Sidónia S; Felício, Verónica V; Lopes, Lurdes L; Amaral, Margarida M; Vilarinho, Laura L

Publication Date: 2018-09

Variant appearance in text: CFTR: R792X

PubMed Link: 33072945

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Journal Of Personalized Medicine

Kiseleva, Anna V AV; Klimushina, Marina V MV; Sotnikova, Evgeniia A EA; Divashuk, Mikhail G MG; Ershova, Alexandra I AI; Skirko, Olga P OP; Kurilova, Olga V OV; Zharikova, Anastasia A AA; Khlebus, Eleonora Yu EY; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Slominsky, Petr A PA; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM

Publication Date: 2020-09-22

Variant appearance in text: CFTR: 2374C>T; R792*; rs145449046

PubMed Link: 32971794

Variant Present in the following documents:

• jpm-10-00140-s001.pdf

View BVdb publication page

---

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Genes

Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Sherman, Victoria D VD; Galkina, Varvara A VA; Ginter, Eugeny K EK; Kutsev, Sergey I SI; Marakhonov, Andrey V AV; Zinchenko, Rena A RA

Publication Date: 2020-05-15

Variant appearance in text: CFTR: 2374C>T

PubMed Link: 32429104

Variant Present in the following documents:

• Main text
• genes-11-00554.pdf

View BVdb publication page

---

c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.

World Journal Of Clinical Cases

Wang, Yu-Qing YQ; Hao, Chuang-Li CL; Jiang, Wu-Jun WJ; Lu, Yan-Hong YH; Sun, Hui-Quan HQ; Gao, Chun-Yan CY; Wu, Min M

Publication Date: 2019-08-06

Variant appearance in text: CFTR: 2374C>T

PubMed Link: 31423445

Variant Present in the following documents:

• Main text
• WJCC-7-2110.pdf

View BVdb publication page

---

Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.

Frontiers In Pediatrics

Li, Haiyan H; Lin, Li L; Hu, Xiaoguang X; Li, Changchong C; Zhang, Hailin H

Publication Date: 2019

Variant appearance in text: CFTR: 2374C>T; R792X

PubMed Link: 30842938

Variant Present in the following documents:

• Main text
• fped-07-00036.pdf

View BVdb publication page

---

Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases.

Orphanet Journal Of Rare Diseases

Guo, Xiaobei X; Liu, Keqiang K; Liu, Yaping Y; Situ, Yusen Y; Tian, Xinlun X; Xu, Kai-Feng KF; Zhang, Xue X

Publication Date: 2018-12-17

Variant appearance in text: CFTR: 2374C>T; R792X

PubMed Link: 30558651

Variant Present in the following documents:

• Main text
• 13023_2018_Article_968.pdf

View BVdb publication page

---

High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.

Experimental & Molecular Medicine

Cho, Sung-Yup SY; Park, Changho C; Na, Deukchae D; Han, Jee Yun JY; Lee, Jieun J; Park, Ok-Kyoung OK; Zhang, Chengsheng C; Sung, Chang Ohk CO; Moon, Hyo Eun HE; Kim, Yona Y; Kim, Jeong Hoon JH; Kim, Jong Jae JJ; Khang, Shin Kwang SK; Nam, Do-Hyun DH; Choi, Jung Won JW; Suh, Yeon-Lim YL; Kim, Dong Gyu DG; Park, Sung Hye SH; Youn, Hyewon H; Yun, Kyuson K; Kim, Jong-Il JI; Lee, Charles C; Paek, Sun Ha SH; Park, Hansoo H

Publication Date: 2017-04-14

Variant appearance in text: CFTR: R792X

PubMed Link: 28408749

Variant Present in the following documents:

• emm20179x1.xlsx, sheet 4

View BVdb publication page

---

p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.

Human Genome Variation

Tian, Xinlun X; Liu, Yaping Y; Yang, Jun J; Wang, Han H; Liu, Tao T; Xu, Wenbing W; Li, Xue X; Zhu, Yuanjue Y; Xu, Kai-Feng KF; Zhang, Xue X

Publication Date: 2016

Variant appearance in text: CFTR: 2374C>T; R792*

PubMed Link: 27081564

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.

The Application Of Clinical Genetics

Sánchez, Karen K; de Mendonca, Elizabeth E; Matute, Xiorama X; Chaustre, Ismenia I; Villalón, Marlene M; Takiff, Howard H

Publication Date: 2016

Variant appearance in text: CFTR: 2374C>T; Arg792*

PubMed Link: 27022295

Variant Present in the following documents:

• Main text
• tacg-9-033.pdf

View BVdb publication page

---