Publications:

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CFTR Modulators Rescue the Activity of CFTR in Colonoids Expressing the Complex Allele p.[R74W;V201M;D1270N]/dele22_24.

International Journal Of Molecular Sciences

Kleinfelder, Karina K; Somenza, Elena E; Farinazzo, Alessia A; Conti, Jessica J; Lotti, Virginia V; Latorre, Roberta Valeria RV; Rodella, Luca L; Massella, Arianna A; Tomba, Francesco F; Bertini, Marina M; Sorio, Claudio C; Melotti, Paola P

Publication Date: 2023-03-08

Variant appearance in text: CFTR: I148T

PubMed Link: 36982273

Variant Present in the following documents:

• ijms-24-05199.pdf

View BVdb publication page

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Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Children (Basel, Switzerland)

Conti, Jessica J; Sorio, Claudio C; Melotti, Paola P

Publication Date: 2022-12-20

Variant appearance in text: CFTR: I148T

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

View BVdb publication page

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Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience.

International Journal Of Neonatal Screening

Bianchimani, Chiara C; Dolce, Daniela D; Centrone, Claudia C; Campana, Silvia S; Ravenni, Novella N; Orioli, Tommaso T; Camera, Erica E; Mergni, Gianfranco G; Fevola, Cristina C; Bonomi, Paolo P; Taccetti, Giovanni G; Terlizzi, Vito V

Publication Date: 2022-08-03

Variant appearance in text: CFTR: I148T

PubMed Link: 35997436

Variant Present in the following documents:

• IJNS-08-00046.pdf

View BVdb publication page

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Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.

Communications Biology

Anglès, Frédéric F; Wang, Chao C; Balch, William E WE

Publication Date: 2022-04-13

Variant appearance in text: CFTR: I148T

PubMed Link: 35418593

Variant Present in the following documents:

• 42003_2022_Article_3302.pdf

View BVdb publication page

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CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.

Jci Insight

Raraigh, Karen S KS; Paul, Kathleen C KC; Goralski, Jennifer L JL; Worthington, Erin N EN; Faino, Anna V AV; Sciortino, Stanley S; Wang, Yiting Y; Aksit, Melis A MA; Ling, Hua H; Osorio, Derek L DL; Onchiri, Frankline M FM; Patel, Shivani U SU; Merlo, Christian A CA; Montemayor, Kristina K; Gibson, Ronald L RL; West, Natalie E NE; Thakerar, Amita A; Bridges, Robert J RJ; Sheppard, David N DN; Sharma, Neeraj N; Cutting, Garry R GR

Publication Date: 2022-03-22

Variant appearance in text: CFTR: I148T

PubMed Link: 35315358

Variant Present in the following documents:

• jciinsight-7-148841.pdf

View BVdb publication page

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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: 443T>C; Ile148Thr; rs35516286

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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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

Publication Date: 2022-08

Variant appearance in text: CFTR: I148T

PubMed Link: 35086832

Variant Present in the following documents:

• ERJ-00508-2021.Supplement.pdf

View BVdb publication page

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Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.

International Journal Of Neonatal Screening

Sicko, Robert J RJ; Stevens, Colleen F CF; Hughes, Erin E EE; Leisner, Melissa M; Ling, Helen H; Saavedra-Matiz, Carlos A CA; Caggana, Michele M; Kay, Denise M DM

Publication Date: 2021-11-02

Variant appearance in text: CFTR: 443T>C; I148T

PubMed Link: 34842611

Variant Present in the following documents:

• Main text
• IJNS-07-00073.pdf

View BVdb publication page

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CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family.

Asian Journal Of Andrology

Ghouchanatigh, Mahdieh Daliri MD; Khan, Ranjha R; Mojarrad, Majid M; Hameed, Uzma U; Zubair, Muhammad M; Waqas, Ahmed A; Jalali, Mohsen M; Kalantari, Mahmoudreza M; Shamsa, Ali A; Zhang, Huan H; Shi, Qing-Hua QH

Publication Date: 2022

Variant appearance in text: CFTR: 443T>C; I148T; rs35516286

PubMed Link: 34755701

Variant Present in the following documents:

• Main text
• AJA-24-416.pdf

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: rs35516286

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Treatment of Pulmonary Disease of Cystic Fibrosis: A Comprehensive Review.

Antibiotics (Basel, Switzerland)

Girón Moreno, Rosa María RM; García-Clemente, Marta M; Diab-Cáceres, Layla L; Martínez-Vergara, Adrián A; Martínez-García, Miguel Ángel MÁ; Gómez-Punter, Rosa Mar RM

Publication Date: 2021-04-23

Variant appearance in text: CFTR: I148T

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phenotyping Rare CFTR Mutations Reveal Functional Expression Defects Restored by TRIKAFTATM.

Journal Of Personalized Medicine

Laselva, Onofrio O; Ardelean, Maria C MC; Bear, Christine E CE

Publication Date: 2021-04-15

Variant appearance in text: CFTR: I148T

PubMed Link: 33920764

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.

Disease Markers

Cambraia, Amanda A; Junior, Mario Campos MC; Zembrzuski, Verônica Marques VM; Junqueira, Ricardo Magrani RM; Cabello, Pedro Hernán PH; de Cabello, Giselda Maria Kalil GMK

Publication Date: 2021

Variant appearance in text: CFTR: 443T>C; Ile148Thr; rs35516286

PubMed Link: 33613790

Variant Present in the following documents:

• Main text

View BVdb publication page

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Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes

Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A

Publication Date: 2021-01-31

Variant appearance in text: CFTR: I148T

PubMed Link: 33572515

Variant Present in the following documents:

• Main text
• genes-12-00206.pdf

View BVdb publication page

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Case Report: Convalescent Plasma, a Targeted Therapy for Patients with CVID and Severe COVID-19.

Frontiers In Immunology

Van Damme, Karel F A KFA; Tavernier, Simon S; Van Roy, Nele N; De Leeuw, Elisabeth E; Declercq, Jozefien J; Bosteels, Cédric C; Maes, Bastiaan B; De Bruyne, Marieke M; Bogaert, Delfien D; Bosteels, Victor V; Hoste, Levi L; Naesens, Leslie L; Maes, Piet P; Grifoni, Alba A; Weiskopf, Daniela D; Sette, Alessandro A; Depuydt, Pieter P; Van Braeckel, Eva E; Haerynck, Filomeen F; Lambrecht, Bart N BN

Publication Date: 2020

Variant appearance in text: CFTR: 443T>C; Ile148Thr; rs35516286

PubMed Link: 33329586

Variant Present in the following documents:

• Table_2.pdf

View BVdb publication page

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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: 443T>C; Ile148Thr; rs35516286

PubMed Link: 32026723

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Plos One

Ivey, Gabrianne G; Youker, Robert T RT

Publication Date: 2020

Variant appearance in text: CFTR: I148T

PubMed Link: 31978131

Variant Present in the following documents:

• Main text
• pone.0227668.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: 443T>C; I148T

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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Image-based β-adrenergic sweat rate assay captures minimal cystic fibrosis transmembrane conductance regulator function.

Pediatric Research

Salinas, Danieli Barino DB; Peng, Yu-Hao YH; Horwich, Brian B; Wee, Choo Phei CP; Frisbee, Eric E; Maarek, Jean-Michel JM

Publication Date: 2020-01

Variant appearance in text: CFTR: I148T

PubMed Link: 31344706

Variant Present in the following documents:

• Main text
• nihms-1534865.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: CFTR: 443T>C; Ile148Thr

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon.

Molecular Genetics & Genomic Medicine

Schucht, Sylvia S; Minso, Rebecca R; Lex, Christiane C; Reiss, Jochen J; Stanke, Frauke F; Tamm, Stephanie S; van Barneveld, Andrea A; Tümmler, Burkhard B

Publication Date: 2019-02

Variant appearance in text: CFTR: I148T

PubMed Link: 30600599

Variant Present in the following documents:

• MGG3-7-na.pdf

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: CFTR: I148T; rs35516286

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Prevalence of abnormal glucose metabolism in pediatric acute, acute recurrent and chronic pancreatitis.

Plos One

Abu-El-Haija, Maisam M; Hornung, Lindsey L; Denson, Lee A LA; Husami, Ammar A; Lin, Tom K TK; Matlock, Kristal K; Nathan, Jaimie D JD; Palermo, Joseph J JJ; Thompson, Tyler T; Valencia, C Alexander CA; Wang, Xinjian X; Woo, Jessica J; Zhang, Keijan K; Elder, Deborah D

Publication Date: 2018

Variant appearance in text: CFTR: I148T

PubMed Link: 30379828

Variant Present in the following documents:

• Main text
• pone.0204979.pdf

View BVdb publication page

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Known genetic susceptibility factors for chronic pancreatitis in patients of European ancestry are rare in patients of African ancestry.

Pancreatology : Official Journal Of The International Association Of Pancreatology (Iap) ... [Et Al.]

Phillips, Anna Evans AE; LaRusch, Jessica J; Greer, Phil P; Abberbock, Judah J; Alkaade, Samer S; Amann, Stephen T ST; Anderson, Michelle A MA; Baillie, John J; Banks, Peter A PA; Brand, Randall E RE; Conwell, Darwin D; Coté, Gregory A GA; Forsmark, Christopher E CE; Gardner, Timothy B TB; Gelrud, Andres A; Guda, Nalini N; Lewis, Michele M; Money, Mary E ME; Muniraj, Thiruvengadam T; Sandhu, Bimaljit S BS; Sherman, Stuart S; Singh, Vikesh K VK; Slivka, Adam A; Tang, Gong G; Wilcox, C Mel CM; Whitcomb, David C DC; Yadav, Dhiraj D

Publication Date: 2018-07

Variant appearance in text: CFTR: I148T

PubMed Link: 29859674

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics and genomic medicine in Tunisia.

Molecular Genetics & Genomic Medicine

Elloumi-Zghal, Houda H; Chaabouni Bouhamed, Habiba H

Publication Date: 2018-03

Variant appearance in text: CFTR: Ile148Thr

PubMed Link: 29663716

Variant Present in the following documents:

• Main text
• MGG3-6-134.pdf

View BVdb publication page

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Transformative therapies for rare CFTR missense alleles.

Current Opinion In Pharmacology

Oliver, Kathryn E KE; Han, Sangwoo T ST; Sorscher, Eric J EJ; Cutting, Garry R GR

Publication Date: 2017-06

Variant appearance in text: CFTR: I148T

PubMed Link: 29032041

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Frontiers In Pharmacology

Cornelius, Albert A; Foley, Jessica J; Bond, Jeffrey J; Nagulapally, Abhinav B AB; Steinbrecher, Julie J; Hendricks, William P D WPD; Rich, Maria M; Yendrembam, Sangeeta S; Bergendahl, Genevieve G; Trent, Jeffrey M JM; Sholler, Giselle S GS

Publication Date: 2017

Variant appearance in text: CFTR: I148T; rs35516286

PubMed Link: 28993730

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

Orphanet Journal Of Rare Diseases

De Wachter, E E; Thomas, M M; Wanyama, S S SS; Seneca, S S; Malfroot, A A

Publication Date: 2017-08-22

Variant appearance in text: CFTR: I148T

PubMed Link: 28830496

Variant Present in the following documents:

• Main text
• 13023_2017_Article_694.pdf

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: 443T>C; Ile148Thr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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CFTR Gene Mutations in the Egyptian Population: Current and Future Insights for Genetic Screening Strategy.

Frontiers In Genetics

El-Seedy, Ayman S AS; Shafiek, Hanaa H; Kitzis, Alain A; Ladevèze, Véronique V

Publication Date: 2017

Variant appearance in text: CFTR: 443T>C

PubMed Link: 28408918

Variant Present in the following documents:

• Main text

View BVdb publication page

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Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.

Journal Of Inborn Errors Of Metabolism And Screening

Hendrix, Miyono M MM; Foster, Stephanie L SL; Cordovado, Suzanne K SK

Publication Date: 2016

Variant appearance in text: CFTR: 443T>C; I148T

PubMed Link: 28261631

Variant Present in the following documents:

• Main text
• nihms822513.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: CFTR: 443T>C; I148T; rs35516286

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation spectrum of Egyptian children with cystic fibrosis.

Springerplus

Shahin, Walaa Aboulkasem WA; Mehaney, Dina Ahmed DA; El-Falaki, Mona Mostafa MM

Publication Date: 2016

Variant appearance in text: CFTR: I148T

PubMed Link: 27347467

Variant Present in the following documents:

• Main text
• 40064_2016_Article_2338.pdf

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: rs35516286

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: 443T>C; I148T; rs35516286

PubMed Link: 26436105

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: I148T

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: rs35516286

PubMed Link: 26199320

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2016-04

Variant appearance in text: CFTR: 443T>C; I148T

PubMed Link: 26014425

Variant Present in the following documents:

• Main text

View BVdb publication page

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Preimplantation genetic diagnosis for cystic fibrosis: a case report.

Einstein (Sao Paulo, Brazil)

Biazotti, Maria Cristina Santoro MC; Pinto Junior, Walter W; Albuquerque, Maria Cecília Romano Maciel de MC; Fujihara, Litsuko Shimabukuro LS; Suganuma, Cláudia Haru CH; Reigota, Renata Bednar RB; Bertuzzo, Carmen Sílvia CS

Publication Date: 2015

Variant appearance in text: CFTR: I148T

PubMed Link: 25993078

Variant Present in the following documents:

• Main text

View BVdb publication page

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Changes in cystic fibrosis airway microbial community associated with a severe decline in lung function.

Plos One

Paganin, Patrizia P; Fiscarelli, Ersilia Vita EV; Tuccio, Vanessa V; Chiancianesi, Manuela M; Bacci, Giovanni G; Morelli, Patrizia P; Dolce, Daniela D; Dalmastri, Claudia C; De Alessandri, Alessandra A; Lucidi, Vincenzina V; Taccetti, Giovanni G; Mengoni, Alessio A; Bevivino, Annamaria A

Publication Date: 2015

Variant appearance in text: CFTR: I148T

PubMed Link: 25898134

Variant Present in the following documents:

• pone.0124348.s003.pdf

View BVdb publication page

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Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.

Journal Of Medical Case Reports

Dell'Edera, Domenico D; Benedetto, Michele M; Gadaleta, Gemma G; Carone, Domenico D; Salvatore, Donatello D; Angione, Antonella A; Gallo, Massimiliano M; Milo, Michele M; Pisaturo, Maria Laura ML; Di Pierro, Giuseppe G; Mazzone, Eleonora E; Epifania, Annunziata Anna AA

Publication Date: 2014-10-10

Variant appearance in text: CFTR: I148T

PubMed Link: 25304080

Variant Present in the following documents:

• Main text
• 1752-1947-8-339.pdf

View BVdb publication page

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Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.

Plos Genetics

LaRusch, Jessica J; Jung, Jinsei J; General, Ignacio J IJ; Lewis, Michele D MD; Park, Hyun Woo HW; Brand, Randall E RE; Gelrud, Andres A; Anderson, Michelle A MA; Banks, Peter A PA; Conwell, Darwin D; Lawrence, Christopher C; Romagnuolo, Joseph J; Baillie, John J; Alkaade, Samer S; Cote, Gregory G; Gardner, Timothy B TB; Amann, Stephen T ST; Slivka, Adam A; Sandhu, Bimaljit B; Aloe, Amy A; Kienholz, Michelle L ML; Yadav, Dhiraj D; Barmada, M Michael MM; Bahar, Ivet I; Lee, Min Goo MG; Whitcomb, David C DC; ,

Publication Date: 2014-07

Variant appearance in text: CFTR: I148T

PubMed Link: 25033378

Variant Present in the following documents:

• Main text
• pgen.1004376.pdf

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: I148T

PubMed Link: 24603877

Variant Present in the following documents:

• Main text

View BVdb publication page

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CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Plos One

Ziętkiewicz, Ewa E; Rutkiewicz, Ewa E; Pogorzelski, Andrzej A; Klimek, Barbara B; Voelkel, Katarzyna K; Witt, Michał M

Publication Date: 2014

Variant appearance in text: CFTR: I148T

PubMed Link: 24586523

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.

Breast Cancer Research : Bcr

Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA

Publication Date: 2013-12-10

Variant appearance in text: CFTR: I148T; rs35516286

PubMed Link: 24326041

Variant Present in the following documents:

• bcr3584-S1.pdf

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A systematic approach to assessing the clinical significance of genetic variants.

Clinical Genetics

Duzkale, H H; Shen, J J; McLaughlin, H H; Alfares, A A; Kelly, M A MA; Pugh, T J TJ; Funke, B H BH; Rehm, H L HL; Lebo, M S MS

Publication Date: 2013-11

Variant appearance in text: CFTR: Ile148Thr

PubMed Link: 24033266

Variant Present in the following documents:

• Main text

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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

Publication Date: 2013-10

Variant appearance in text: CFTR: Ile148Thr

PubMed Link: 23974870

Variant Present in the following documents:

• NIHMS512446-supplement-12.xlsx, sheet 1

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Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis.

Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia

Dal'Maso, Vinícius Buaes VB; Mallmann, Lucas L; Siebert, Marina M; Simon, Laura L; Saraiva-Pereira, Maria Luiza ML; Dalcin, Paulo de Tarso Roth Pde T

Publication Date: 2013

Variant appearance in text: CFTR: I148T

PubMed Link: 23670503

Variant Present in the following documents:

• Main text
• 1806-3713-jbpneu-39-02-00181.pdf

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Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.

European Journal Of Human Genetics : Ejhg

Sobczyńska-Tomaszewska, Agnieszka A; Ołtarzewski, Mariusz M; Czerska, Kamila K; Wertheim-Tysarowska, Katarzyna K; Sands, Dorota D; Walkowiak, Jarosław J; Bal, Jerzy J; Mazurczak, Tadeusz T; ,

Publication Date: 2013-04

Variant appearance in text: CFTR: I148T

PubMed Link: 22892530

Variant Present in the following documents:

• Main text

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Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011.

Journal Of Inherited Metabolic Disease

Cornel, Martina C MC; Gille, Johan J P JJ; Loeber, J Gerard JG; Vernooij-van Langen, Annette M M AM; Dankert-Roelse, Jeannette J; Bolhuis, Piet A PA

Publication Date: 2012-07

Variant appearance in text: CFTR: I148T

PubMed Link: 22302635

Variant Present in the following documents:

• Main text

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Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele.

Genetics And Molecular Biology

Polizzi, Angela A; Tesse, Riccardina R; Santostasi, Teresa T; Diana, Anna A; Manca, Antonio A; Logrillo, Vito Paolo VP; Cazzato, Maria Domenica MD; Pantaleo, Maria Giuseppa MG; Armenio, Lucio L

Publication Date: 2011-07

Variant appearance in text: CFTR: I148T

PubMed Link: 21931512

Variant Present in the following documents:

• gmb-34-3-416.pdf

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Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.

Gastroenterology

Schneider, Alexander A; Larusch, Jessica J; Sun, Xiumei X; Aloe, Amy A; Lamb, Janette J; Hawes, Robert R; Cotton, Peter P; Brand, Randall E RE; Anderson, Michelle A MA; Money, Mary E ME; Banks, Peter A PA; Lewis, Michele D MD; Baillie, John J; Sherman, Stuart S; Disario, James J; Burton, Frank R FR; Gardner, Timothy B TB; Amann, Stephen T ST; Gelrud, Andres A; George, Ryan R; Rockacy, Matthew J MJ; Kassabian, Sirvart S; Martinson, Jeremy J; Slivka, Adam A; Yadav, Dhiraj D; Oruc, Nevin N; Barmada, M Michael MM; Frizzell, Raymond R; Whitcomb, David C DC

Publication Date: 2011-01

Variant appearance in text: CFTR: I148T

PubMed Link: 20977904

Variant Present in the following documents:

• Main text

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Regulation of endogenous ENaC functional expression by CFTR and ΔF508-CFTR in airway epithelial cells.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Rubenstein, Ronald C RC; Lockwood, Shannon R SR; Lide, Ellen E; Bauer, Rebecca R; Suaud, Laurence L; Grumbach, Yael Y

Publication Date: 2011-01

Variant appearance in text: CFTR: I148T

PubMed Link: 20935229

Variant Present in the following documents:

• Main text

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