Publications:

---

Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome.

Frontiers In Pediatrics

Gunnett, Mohini A MA; Baker, Elizabeth E; Mims, Cathy C; Self, Staci T ST; Gutierrez, Hector H HH; Guimbellot, Jennifer S JS

Publication Date: 2023

Variant appearance in text: CFTR: S1455x

PubMed Link: 36969284

Variant Present in the following documents:

• Main text
• fped-11-1127659.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: 4364C>G; Ser1455Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Beyond the Local Basic Panel: Full CFTR Gene Analysis Identifies Novel CF Mutation Missed on Standard Testing in an Arabic Child.

Cureus

Francis, Nader N; Yavuz, Sinan S; Elnazir, Basil B

Publication Date: 2023-01

Variant appearance in text: CFTR: 4364C>G; SER1455*

PubMed Link: 36741604

Variant Present in the following documents:

• Main text
• cureus-0015-00000033337.pdf

View BVdb publication page

---

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: 4364C>G; S1455X

PubMed Link: 35315358

Variant Present in the following documents:

• jciinsight-7-148841.pdf

View BVdb publication page

---

The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: CFTR: 4364C>G; Ser1455Ter; rs121909043

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

---

The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: CFTR: 4364C>G; Ser1455Ter; rs121909043

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

---

Exon-skipping antisense oligonucleotides for cystic fibrosis therapy.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Kim, Young Jin YJ; Sivetz, Nicole N; Layne, Jessica J; Voss, Dillon M DM; Yang, Lucia L; Zhang, Qian Q; Krainer, Adrian R AR

Publication Date: 2022-01-18

Variant appearance in text: CFTR: S1455X

PubMed Link: 35017301

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 4364C>G; rs121909043

PubMed Link: 34860163

Variant Present in the following documents:

• bmj-38-6-357.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: rs121909043

PubMed Link: 34541464

Variant Present in the following documents:

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

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: 4364C>G; Ser1455Ter; rs121909043

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Extensive CFTR Gene Analysis Revealed a Higher Occurrence of Cystic Fibrosis Transmembrane Regulator-Related Disorders (CFTR-RD) among CF Carriers.

Journal Of Clinical Medicine

Esposito, Maria Valeria MV; Aveta, Achille A; Comegna, Marika M; Cernera, Gustavo G; Iacotucci, Paola P; Carnovale, Vincenzo V; Taccetti, Giovanni G; Terlizzi, Vito V; Castaldo, Giuseppe G

Publication Date: 2020-11-27

Variant appearance in text: CFTR: S1455X

PubMed Link: 33260873

Variant Present in the following documents:

• Main text
• jcm-09-03853.pdf

View BVdb publication page

---

Allele-Specific Prevention of Nonsense-Mediated Decay in Cystic Fibrosis Using Homology-Independent Genome Editing.

Molecular Therapy. Methods & Clinical Development

Erwood, Steven S; Laselva, Onofrio O; Bily, Teija M I TMI; Brewer, Reid A RA; Rutherford, Alexandra H AH; Bear, Christine E CE; Ivakine, Evgueni A EA

Publication Date: 2020-06-12

Variant appearance in text: CFTR: S1455X

PubMed Link: 32490033

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

View BVdb publication page

---

In vivo crystals reveal critical features of the interaction between cystic fibrosis transmembrane conductance regulator (CFTR) and the PDZ2 domain of Na+/H+ exchange cofactor NHERF1.

The Journal Of Biological Chemistry

Martin, Eleanor R ER; Barbieri, Alessandro A; Ford, Robert C RC; Robinson, Robert C RC

Publication Date: 2020-04-03

Variant appearance in text: CFTR: S1455X

PubMed Link: 32014995

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Physiology of sweat gland function: The roles of sweating and sweat composition in human health.

Temperature (Austin, Tex.)

Baker, Lindsay B LB

Publication Date: 2019

Variant appearance in text: CFTR: S1455X

PubMed Link: 31608304

Variant Present in the following documents:

• ktmp-06-03-1632145.pdf

View BVdb publication page

---

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: 4364C>G; Ser1455*; rs121909043

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

---

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

Publication Date: 2019-11

Variant appearance in text: CFTR: 4364C>G; S1455*

PubMed Link: 31036917

Variant Present in the following documents:

• 41436_2019_525_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Transcytosis maintains CFTR apical polarity in the face of constitutive and mutation-induced basolateral missorting.

Journal Of Cell Science

Bidaud-Meynard, Aurélien A; Bossard, Florian F; Schnúr, Andrea A; Fukuda, Ryosuke R; Veit, Guido G; Xu, Haijin H; Lukacs, Gergely L GL

Publication Date: 2019-05-15

Variant appearance in text: CFTR: S1455X

PubMed Link: 30975917

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.

Plos Genetics

Sharma, Neeraj N; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis, Emily E; Aksit, Melis A MA; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhu Z; Han, Sangwoo T ST; Anzmann, Arianna F AF; Lam, Anh-Thu N AN; Thaxton, Abigail A; West, Natalie N; Merlo, Christian C; Gottschalk, Laura B LB; Raraigh, Karen S KS; Sosnay, Patrick R PR; Cotton, Calvin U CU; Cutting, Garry R GR

Publication Date: 2018-11

Variant appearance in text: CFTR: S1455X

PubMed Link: 30444886

Variant Present in the following documents:

• Main text
• pgen.1007723.pdf

View BVdb publication page

---

Structural mechanisms for defective CFTR gating caused by the Q1412X mutation, a severe Class VI pathogenic mutation in cystic fibrosis.

The Journal Of Physiology

Yeh, Jiunn-Tyng JT; Yu, Ying-Chun YC; Hwang, Tzyh-Chang TC

Publication Date: 2019-01

Variant appearance in text: CFTR: S1455X

PubMed Link: 30408177

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Design of a Broad-Range Bacteriophage Cocktail That Reduces Pseudomonas aeruginosa Biofilms and Treats Acute Infections in Two Animal Models.

Antimicrobial Agents And Chemotherapy

Forti, Francesca F; Roach, Dwayne R DR; Cafora, Marco M; Pasini, Maria E ME; Horner, David S DS; Fiscarelli, Ersilia V EV; Rossitto, Martina M; Cariani, Lisa L; Briani, Federica F; Debarbieux, Laurent L; Ghisotti, Daniela D

Publication Date: 2018-06

Variant appearance in text: CFTR: S1455X

PubMed Link: 29555626

Variant Present in the following documents:

• AAC.02573-17_zac005187170s1.pdf

View BVdb publication page

---

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics

Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M

Publication Date: 2017-11

Variant appearance in text: CFTR: S1455X

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 7

View BVdb publication page

---

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: S1455X

PubMed Link: 28830496

Variant Present in the following documents:

• Main text
• 13023_2017_Article_694.pdf

View BVdb publication page

---

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

Publication Date: 2017-05

Variant appearance in text: CFTR: 4364C>G; Ser1455*

PubMed Link: 28546993

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Correctors and Potentiators Rescue Function of the Truncated W1282X-Cystic Fibrosis Transmembrane Regulator (CFTR) Translation Product.

The Journal Of Biological Chemistry

Haggie, Peter M PM; Phuan, Puay-Wah PW; Tan, Joseph-Anthony JA; Xu, Haijin H; Avramescu, Radu G RG; Perdomo, Doranda D; Zlock, Lorna L; Nielson, Dennis W DW; Finkbeiner, Walter E WE; Lukacs, Gergely L GL; Verkman, Alan S AS

Publication Date: 2017-01-20

Variant appearance in text: CFTR: S1455X

PubMed Link: 27895116

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Sharma, Neeraj N; LaRusch, Jessica J; Sosnay, Patrick R PR; Gottschalk, Laura B LB; Lopez, Andrea P AP; Pellicore, Matthew J MJ; Evans, Taylor T; Davis, Emily E; Atalar, Melis M; Na, Chan-Hyun CH; Rosson, Gedge D GD; Belchis, Deborah D; Milewski, Michal M; Pandey, Akhilesh A; Cutting, Garry R GR

Publication Date: 2016-12-01

Variant appearance in text: CFTR: S1455X

PubMed Link: 27793802

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Poster Session Abstracts.

Pediatric Pulmonology

Publication Date: 2016-10

Variant appearance in text: CFTR: S1455X

PubMed Link: 27653516

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Cystic fibrosis.

Nature Reviews. Disease Primers

Ratjen, Felix F; Bell, Scott C SC; Rowe, Steven M SM; Goss, Christopher H CH; Quittner, Alexandra L AL; Bush, Andrew A

Publication Date: 2015-05-14

Variant appearance in text: CFTR: S1455X

PubMed Link: 27189798

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)

Lucarelli, Marco M; Bruno, Sabina Maria SM; Pierandrei, Silvia S; Ferraguti, Giampiero G; Stamato, Antonella A; Narzi, Fabiana F; Amato, Annalisa A; Cimino, Giuseppe G; Bertasi, Serenella S; Quattrucci, Serena S; Strom, Roberto R

Publication Date: 2015-04-21

Variant appearance in text: CFTR: 4364C>G; S1455X

PubMed Link: 25910067

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: S1455X

PubMed Link: 25304080

Variant Present in the following documents:

• Main text
• 1752-1947-8-339.pdf

View BVdb publication page

---

Keratin K18 increases cystic fibrosis transmembrane conductance regulator (CFTR) surface expression by binding to its C-terminal hydrophobic patch.

The Journal Of Biological Chemistry

Duan, Yuanyuan Y; Sun, Ying Y; Zhang, Fan F; Zhang, Wei Kevin WK; Wang, Dong D; Wang, Yan Y; Cao, Xu X; Hu, Wenbao W; Xie, Changyan C; Cuppoletti, John J; Magin, Thomas M TM; Wang, Haixia H; Wu, Zhenguo Z; Li, Ning N; Huang, Pingbo P

Publication Date: 2012-11-23

Variant appearance in text: CFTR: S1455X

PubMed Link: 23045527

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: SER1455TER

PubMed Link: 19357641

Variant Present in the following documents:

• msb200916-s1.pdf

View BVdb publication page

---

Restoration of W1282X CFTR activity by enhanced expression.

American Journal Of Respiratory Cell And Molecular Biology

Rowe, Steven M SM; Varga, Karoly K; Rab, Andras A; Bebok, Zsuzsa Z; Byram, Kevin K; Li, Yao Y; Sorscher, Eric J EJ; Clancy, John P JP

Publication Date: 2007-09

Variant appearance in text: CFTR: S1455X

PubMed Link: 17541014

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era.

The Clinical Biochemist. Reviews

Mishra, Avantika A; Greaves, Ronda R; Massie, John J

Publication Date: 2005-11

Variant appearance in text: CFTR: S1455X

PubMed Link: 16648884

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Effects of C-terminal deletions on cystic fibrosis transmembrane conductance regulator function in cystic fibrosis airway epithelia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Ostedgaard, Lynda S LS; Randak, Christoph C; Rokhlina, Tatiana T; Karp, Philip P; Vermeer, Daniel D; Ashbourne Excoffon, Katherine J KJ; Welsh, Michael J MJ

Publication Date: 2003-02-18

Variant appearance in text: CFTR: S1455X

PubMed Link: 12578973

Variant Present in the following documents:

• Main text

View BVdb publication page

---