Publications:

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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: 1438G>T; Gly480Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Translational Research in Cystic Fibrosis: From Bench to Beside.

Frontiers In Pediatrics

Garcia, Laura de Castro E LCE; Petry, Lucas Montiel LM; Germani, Pedro Augusto Van Der Sand PAVS; Xavier, Luiza Fernandes LF; de Barros, Paula Barros PB; Meneses, Amanda da Silva ADS; Prestes, Laura Menestrino LM; Bittencourt, Luana Braga LB; Pieta, Marina Puerari MP; Friedrich, Frederico F; Pinto, Leonardo Araújo LA

Publication Date: 2022

Variant appearance in text: CFTR: G480C

PubMed Link: 35652053

Variant Present in the following documents:

• Main text
• fped-10-881470.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: 1438G>T; G480C

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM3_ESM.xls, sheet 1

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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: rs79282516

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

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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: 1438G>T; Gly480Cys; rs79282516

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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On the Corner of Models and Cure: Gene Editing in Cystic Fibrosis.

Frontiers In Pharmacology

Ensinck, Marjolein M; Mottais, Angélique A; Detry, Claire C; Leal, Teresinha T; Carlon, Marianne S MS

Publication Date: 2021

Variant appearance in text: CFTR: 1438G>T; G480C

PubMed Link: 33986686

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: CFTR: G480C

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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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: 1438G>T

PubMed Link: 32429104

Variant Present in the following documents:

• Main text
• genes-11-00554.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: CFTR: 1438G>T; G480C

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: CFTR: 1438G>T; Gly480Cys; rs79282516

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Strategies for the etiological therapy of cystic fibrosis.

Cell Death And Differentiation

Maiuri, Luigi L; Raia, Valeria V; Kroemer, Guido G

Publication Date: 2017-11

Variant appearance in text: CFTR: G480C

PubMed Link: 28937684

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CFTR: 1438G>T; Gly480Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Animal Models of Cystic Fibrosis Pathology: Phenotypic Parallels and Divergences.

Biomed Research International

Lavelle, Gillian M GM; White, Michelle M MM; Browne, Niall N; McElvaney, Noel G NG; Reeves, Emer P EP

Publication Date: 2016

Variant appearance in text: CFTR: G480C

PubMed Link: 27340661

Variant Present in the following documents:

• Main text
• BMRI2016-5258727.pdf

View BVdb publication page

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Barriers to inhaled gene therapy of obstructive lung diseases: A review.

Journal Of Controlled Release : Official Journal Of The Controlled Release Society

Kim, Namho N; Duncan, Gregg A GA; Hanes, Justin J; Suk, Jung Soo JS

Publication Date: 2016-10-28

Variant appearance in text: CFTR: G480C

PubMed Link: 27196742

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G480C

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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The tumor necrosis factor α (-308 A/G) polymorphism is associated with cystic fibrosis in Mexican patients.

Plos One

Sanchez-Dominguez, Celia N CN; Reyes-Lopez, Miguel A MA; Bustamante, Adriana A; Cerda-Flores, Ricardo M RM; Villalobos-Torres, Maria Del C Mdel C; Gallardo-Blanco, Hugo L HL; Rojas-Martinez, Augusto A; Martinez-Rodriguez, Herminia G HG; Barrera-Saldaña, Hugo A HA; Ortiz-Lopez, Rocio R

Publication Date: 2014

Variant appearance in text: CFTR: G480C

PubMed Link: 24603877

Variant Present in the following documents:

• Main text

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Impact of heterozygote CFTR mutations in COPD patients with chronic bronchitis.

Respiratory Research

Raju, S Vamsee SV; Tate, Jody H JH; Peacock, Sandra K G SK; Fang, Ping P; Oster, Robert A RA; Dransfield, Mark T MT; Rowe, Steven M SM

Publication Date: 2014-02-11

Variant appearance in text: CFTR: G480C

PubMed Link: 24517344

Variant Present in the following documents:

• 1465-9921-15-18.pdf

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The cystic fibrosis of exocrine pancreas.

Cold Spring Harbor Perspectives In Medicine

Wilschanski, Michael M; Novak, Ivana I

Publication Date: 2013-05-01

Variant appearance in text: CFTR: G480C

PubMed Link: 23637307

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessing the Disease-Liability of Mutations in CFTR.

Cold Spring Harbor Perspectives In Medicine

Ferec, Claude C; Cutting, Garry R GR

Publication Date: 2012-12-01

Variant appearance in text: CFTR: G480C

PubMed Link: 23209179

Variant Present in the following documents:

• Main text

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Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

The Journal Of Biological Chemistry

Salin-Cantegrel, Adèle A; Rivière, Jean-Baptiste JB; Shekarabi, Masoud M; Rasheed, Sarah S; Dacal, Sandra S; Laganière, Janet J; Gaudet, Rébecca R; Rochefort, Daniel D; Lesca, Gaëtan G; Gaspar, Claudia C; Dion, Patrick A PA; Lapointe, Jean-Yves JY; Rouleau, Guy A GA

Publication Date: 2011-08-12

Variant appearance in text: CFTR: G480C

PubMed Link: 21628467

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ceramide in cystic fibrosis: a potential new target for therapeutic intervention.

Journal Of Lipids

Wojewodka, Gabriella G; De Sanctis, Juan B JB; Radzioch, Danuta D

Publication Date: 2011

Variant appearance in text: CFTR: G480C

PubMed Link: 21490807

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.

Respiratory Research

Green, Deanna M DM; McDougal, Kathryn E KE; Blackman, Scott M SM; Sosnay, Patrick R PR; Henderson, Lindsay B LB; Naughton, Kathleen M KM; Collaco, J Michael JM; Cutting, Garry R GR

Publication Date: 2010-10-08

Variant appearance in text: CFTR: G480C

PubMed Link: 20932301

Variant Present in the following documents:

• Main text
• 1465-9921-11-140.pdf

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The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

The Journal Of Molecular Diagnostics : Jmd

Farkas, Daniel H DH; Miltgen, Nicholas E NE; Stoerker, Jay J; van den Boom, Dirk D; Highsmith, W Edward WE; Cagasan, Lesley L; McCullough, Ron R; Mueller, Reinhold R; Tang, Lin L; Tynan, John J; Tate, Courtney C; Bombard, Allan A

Publication Date: 2010-09

Variant appearance in text: CFTR: G480C

PubMed Link: 20616359

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of cellular networks on disease comorbidity.

Molecular Systems Biology

Park, Juyong J; Lee, Deok-Sun DS; Christakis, Nicholas A NA; Barabási, Albert-László AL

Publication Date: 2009

Variant appearance in text: CFTR: GLY480CYS

PubMed Link: 19357641

Variant Present in the following documents:

• msb200916-s1.pdf

View BVdb publication page

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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society

Castellani, C C; Cuppens, H H; Macek, M M; Cassiman, J J JJ; Kerem, E E; Durie, P P; Tullis, E E; Assael, B M BM; Bombieri, C C; Brown, A A; Casals, T T; Claustres, M M; Cutting, G R GR; Dequeker, E E; Dodge, J J; Doull, I I; Farrell, P P; Ferec, C C; Girodon, E E; Johannesson, M M; Kerem, B B; Knowles, M M; Munck, A A; Pignatti, P F PF; Radojkovic, D D; Rizzotti, P P; Schwarz, M M; Stuhrmann, M M; Tzetis, M M; Zielenski, J J; Elborn, J S JS

Publication Date: 2008-05

Variant appearance in text: CFTR: G480C

PubMed Link: 18456578

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.

American Journal Of Respiratory And Critical Care Medicine

Wilschanski, Michael M; Dupuis, Annie A; Ellis, Lynda L; Jarvi, Keith K; Zielenski, Julian J; Tullis, Elizabeth E; Martin, Sheelagh S; Corey, Mary M; Tsui, Lap-Chee LC; Durie, Peter P

Publication Date: 2006-10-01

Variant appearance in text: CFTR: G480C

PubMed Link: 16840743

Variant Present in the following documents:

• Main text

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Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P

Publication Date: 2005-08

Variant appearance in text: CFTR: G480C

PubMed Link: 16049310

Variant Present in the following documents:

• Main text

View BVdb publication page

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Instability of the insertional mutation in CftrTgH(neoim)Hgu cystic fibrosis mouse model.

Bmc Genetics

Charizopoulou, Nikoletta N; Jansen, Silke S; Dorsch, Martina M; Stanke, Frauke F; Dorin, Julia R JR; Hedrich, Hans-Jürgen HJ; Tümmler, Burkhard B

Publication Date: 2004-04-21

Variant appearance in text: CFTR: G480C

PubMed Link: 15102331

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structure of nucleotide-binding domain 1 of the cystic fibrosis transmembrane conductance regulator.

The Embo Journal

Lewis, Hal A HA; Buchanan, Sean G SG; Burley, Stephen K SK; Conners, Kris K; Dickey, Mark M; Dorwart, Michael M; Fowler, Richard R; Gao, Xia X; Guggino, William B WB; Hendrickson, Wayne A WA; Hunt, John F JF; Kearins, Margaret C MC; Lorimer, Don D; Maloney, Peter C PC; Post, Kai W KW; Rajashankar, Kanagalaghatta R KR; Rutter, Marc E ME; Sauder, J Michael JM; Shriver, Stephanie S; Thibodeau, Patrick H PH; Thomas, Philip J PJ; Zhang, Marie M; Zhao, Xun X; Emtage, Spencer S

Publication Date: 2004-01-28

Variant appearance in text: CFTR: G480C

PubMed Link: 14685259

Variant Present in the following documents:

• Main text

View BVdb publication page

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