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: 2657+5G>A; rs80224560
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
Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.
The European Respiratory Journal
Muilwijk, Danya D; de Poel, Eyleen E; van Mourik, Peter P; Suen, Sylvia W F SWF; Vonk, Annelotte M AM; Brunsveld, Jesse E JE; Kruisselbrink, Evelien E; Oppelaar, Hugo H; Hagemeijer, Marne C MC; Berkers, Gitte G; de Winter-de Groot, Karin M KM; Heida-Michel, Sabine S; Jans, Stephan R SR; van Panhuis, Hannah H; van der Eerden, Menno M MM; van der Meer, Renske R; Roukema, Jolt J; Dompeling, Edward E; Weersink, Els J M EJM; Koppelman, Gerard H GH; Vries, Robert R; Zomer-van Ommen, Domenique D DD; Eijkemans, Marinus J C MJC; van der Ent, Cornelis K CK; Beekman, Jeffrey M JM
The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.
Balkan Medical Journal
Erdoğan, Murat M; Köse, Mehmet M; Pekcan, Sevgi S; Hangül, Melih M; Balta, Burhan B; Kiraz, Aslıhan A; Akıncı Gönen, Gizem G; Zamani, Ayşe Gül AG; Yıldırım, Mahmut Selam MS; Ramaslı Gürsoy, Tuğba T; Ezgu, Fatih F; Şişmanlar Eyüpoğlu, Tuğba T; Tana Aslan, Ayse A
Publication Date: 2021-11
Variant appearance in text: CFTR: 2657+5G>A; rs80224560
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Human Mutation
Nykamp, Keith K; Truty, Rebecca R; Riethmaier, Darlene D; Wilkinson, Julia J; Bristow, Sara L SL; Aguilar, Sienna S; Neitzel, Dana D; Faulkner, Nicole N; Aradhya, Swaroop S
Cystic Fibrosis Polymorphic Variants in a Russian Population.
Pharmacogenomics And Personalized Medicine
Kiseleva, Anna A; Klimushina, Marina M; Sotnikova, Evgeniia E; Skirko, Olga O; Divashuk, Mikhail M; Kurilova, Olga O; Ershova, Alexandra A; Khlebus, Eleonora E; Zharikova, Anastasia A; Efimova, Irina I; Pokrovskaya, Maria M; Slominsky, Petr A PA; Shalnova, Svetlana S; Meshkov, Alexey A; Drapkina, Oxana O
CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development?
Diagnostics (Basel, Switzerland)
Terlizzi, Vito V; Padoan, Rita R; Claut, Laura L; Colombo, Carla C; Fabrizzi, Benedetta B; Lucarelli, Marco M; Bruno, Sabina Maria SM; Castaldo, Alice A; Bonomi, Paolo P; Taccetti, Giovanni G; Tosco, Antonella A
Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.
Plos Genetics
Joynt, Anya T AT; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis-Marcisak, Emily F EF; Aksit, Melis A MA; Eastman, Alice C AC; Patel, Shivani U SU; Paul, Kathleen C KC; Osorio, Derek L DL; Bowling, Alyssa D AD; Cotton, Calvin U CU; Raraigh, Karen S KS; West, Natalie E NE; Merlo, Christian A CA; Cutting, Garry R GR; Sharma, Neeraj N
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: 2657+5G>A; rs80224560
Cystic Fibrosis: Overview of the Current Development Trends and Innovative Therapeutic Strategies.
Pharmaceutics
Almughem, Fahad A FA; Aldossary, Ahmad M AM; Tawfik, Essam A EA; Alomary, Mohammad N MN; Alharbi, Waleed S WS; Alshahrani, Mohammad Y MY; Alshehri, Abdullah A AA
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
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Deignan, Joshua L JL; Astbury, Caroline C; Cutting, Garry R GR; Del Gaudio, Daniela D; Gregg, Anthony R AR; Grody, Wayne W WW; Monaghan, Kristin G KG; Richards, Sue S; ,
Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.
Annals Of Saudi Medicine
Banjar, Hanaa Hasan HH; Tuleimat, Lin L; El Seoudi, Abdul Aziz Agha AAA; Mogarri, Ibrahim I; Alhaider, Sami S; Nizami, Imran Yaqoob IY; AlMaghamsi, Talal T; Alkaf, Sara Andulrahman SA; Moghrabi, Nabil N
Publication Date: 2020
Variant appearance in text: CFTR: 2657+5G>A; rs80224560
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: CFTR: 2657+5G>A; rs80224560
Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Beauchamp, Kyle A KA; Johansen Taber, Katherine A KA; Grauman, Peter V PV; Spurka, Lindsay L; Lim-Harashima, Jeraldine J; Svenson, Ashley A; Goldberg, James D JD; Muzzey, Dale D
Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.
Bmc Medical Genetics
Petrova, N V NV; Kashirskaya, N Y NY; Saydaeva, D K DK; Polyakov, A V AV; Adyan, T A TA; Simonova, O I OI; Gorinova, Y V YV; Kondratyeva, E I EI; Sherman, V D VD; Novoselova, O G OG; Vasilyeva, T A TA; Marakhonov, A V AV; Macek, M M; Ginter, E K EK; Zinchenko, R A RA
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.
Nucleic Acids Research
Bruun, Gitte H GH; Bang, Jeanne M V JMV; Christensen, Lise L LL; Brøner, Sabrina S; Petersen, Ulrika S S USS; Guerra, Barbara B; Grønning, Alexander G B AGB; Doktor, Thomas K TK; Andresen, Brage S BS
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: 2657+5G>A; rs80224560
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.
Molecular Genetics & Genomic Medicine
Behar, Doron M DM; Inbar, Ori O; Shteinberg, Michal M; Gur, Michal M; Mussaffi, Huda H; Shoseyov, David D; Ashkenazi, Moshe M; Alkrinawi, Soliman S; Bormans, Concetta C; Hakim, Fahed F; Mei-Zahav, Meir M; Cohen-Cymberknoh, Malena M; Dagan, Adi A; Prais, Dario D; Sarouk, Ifat I; Stafler, Patrick P; Bar Aluma, Bat El BE; Akler, Gidon G; Picard, Elie E; Aviram, Micha M; Efrati, Ori O; Livnat, Galit G; Rivlin, Joseph J; Bentur, Lea L; Blau, Hannah H; Kerem, Eitan E; Singer, Amihood A
Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.
The Journal Of Pediatrics
Giefer, Matthew J MJ; Lowe, Mark E ME; Werlin, Steven L SL; Zimmerman, Bridget B; Wilschanski, Michael M; Troendle, David D; Schwarzenberg, Sarah Jane SJ; Pohl, John F JF; Palermo, Joseph J; Ooi, Chee Y CY; Morinville, Veronique D VD; Lin, Tom K TK; Husain, Sohail Z SZ; Himes, Ryan R; Heyman, Melvin B MB; Gonska, Tanja T; Gariepy, Cheryl E CE; Freedman, Steven D SD; Fishman, Douglas S DS; Bellin, Melena D MD; Barth, Bradley B; Abu-El-Haija, Maisam M; Uc, Aliye A
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Molecular Genetics & Genomic Medicine
Trujillano, Daniel D; Weiss, Maximilian E R ME; Köster, Julia J; Papachristos, Efstathios B EB; Werber, Martin M; Kandaswamy, Krishna Kumar KK; Marais, Anett A; Eichler, Sabrina S; Creed, Jenny J; Baysal, Erol E; Jaber, Iqbal Yousuf IY; Mehaney, Dina Ahmed DA; Farra, Chantal C; Rolfs, Arndt A
Publication Date: 2015-09
Variant appearance in text: CFTR: 2657+5G>A; rs80224560
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
European Journal Of Human Genetics : Ejhg
Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M
Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.
Human Mutation
Sharma, Neeraj N; Sosnay, Patrick R PR; Ramalho, Anabela S AS; Douville, Christopher C; Franca, Arianna A; Gottschalk, Laura B LB; Park, Jeenah J; Lee, Melissa M; Vecchio-Pagan, Briana B; Raraigh, Karen S KS; Amaral, Margarida D MD; Karchin, Rachel R; Cutting, Garry R GR
Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.
European Journal Of Human Genetics : Ejhg
Masvidal, Laia L; Igreja, Susana S; Ramos, Maria D MD; Alvarez, Antoni A; de Gracia, Javier J; Ramalho, Anabela A; Amaral, Margarida D MD; Larriba, Sara S; Casals, Teresa T
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Nature Genetics
Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR
A comprehensive assay for CFTR mutational analysis using next-generation sequencing.
Clinical Chemistry
Abou Tayoun, Ahmad N AN; Tunkey, Christopher D CD; Pugh, Trevor J TJ; Ross, Tristen T; Shah, Minita M; Lee, Clarence C CC; Harkins, Timothy T TT; Wells, Wendy A WA; Tafe, Laura J LJ; Amos, Christopher I CI; Tsongalis, Gregory J GJ
Implementation of the first worldwide quality assurance program for cystic fibrosis multiple mutation detection in population-based screening.
Clinica Chimica Acta; International Journal Of Clinical Chemistry
Earley, Marie C MC; Laxova, Anita A; Farrell, Philip M PM; Driscoll-Dunn, Rena R; Cordovado, Suzanne S; Mogayzel, Peter J PJ; Konstan, Michael W MW; Hannon, W Harry WH
CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.
Journal Of Medical Genetics
Sheridan, Molly B MB; Hefferon, Timothy W TW; Wang, Nulang N; Merlo, Christian C; Milla, Carlos C; Borowitz, Drucy D; Green, Eric D ED; Mogayzel, Peter J PJ; Cutting, Garry R GR