Publications:

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Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.

Molecular Medicine (Cambridge, Mass.)

Tavano, Francesca F; Gioffreda, Domenica D; Fontana, Andrea A; Palmieri, Orazio O; Gentile, Annamaria A; Latiano, Tiziana T; Latiano, Anna A; Latiano, Tiziana Pia TP; Scaramuzzi, Matteo M; Maiello, Evaristo E; Bazzocchi, Francesca F; Perri, Francesco F

Publication Date: 2023-01-30

Variant appearance in text: CFTR: 859A>T; Asn287Tyr

PubMed Link: 36717774

Variant Present in the following documents:

• 10020_2023_600_MOESM1_ESM.xlsx, 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: rs397508804

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

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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: rs397508804

PubMed Link: 34541464

Variant Present in the following documents:

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

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The bidirectional relationship between CFTR and lipids.

Communications Biology

Cottrill, Kirsten A KA; Farinha, Carlos M CM; McCarty, Nael A NA

Publication Date: 2020-04-20

Variant appearance in text: CFTR: N287Y

PubMed Link: 32313074

Variant Present in the following documents:

• Main text
• 42003_2020_Article_909.pdf

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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: N287Y

PubMed Link: 30975917

Variant Present in the following documents:

• Main text

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Progression of Cystic Fibrosis Lung Disease from Childhood to Adulthood: Neutrophils, Neutrophil Extracellular Trap (NET) Formation, and NET Degradation.

Genes

Khan, Meraj A MA; Ali, Zubair Sabz ZS; Sweezey, Neil N; Grasemann, Hartmut H; Palaniyar, Nades N

Publication Date: 2019-02-26

Variant appearance in text: CFTR: N287Y

PubMed Link: 30813645

Variant Present in the following documents:

• Main text
• genes-10-00183.pdf

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Human Primary Epithelial Cell Models: Promising Tools in the Era of Cystic Fibrosis Personalized Medicine.

Frontiers In Pharmacology

Awatade, Nikhil T NT; Wong, Sharon L SL; Hewson, Chris K CK; Fawcett, Laura K LK; Kicic, Anthony A; Jaffe, Adam A; Waters, Shafagh A SA

Publication Date: 2018

Variant appearance in text: CFTR: N287Y

PubMed Link: 30581387

Variant Present in the following documents:

• Main text
• fphar-09-01429.pdf

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Peripheral Protein Quality Control as a Novel Drug Target for CFTR Stabilizer.

Frontiers In Pharmacology

Fukuda, Ryosuke R; Okiyoneda, Tsukasa T

Publication Date: 2018

Variant appearance in text: CFTR: N287Y

PubMed Link: 30319426

Variant Present in the following documents:

• Main text
• fphar-09-01100.pdf

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Innovative Therapeutic Strategies for Cystic Fibrosis: Moving Forward to CRISPR Technique.

Frontiers In Pharmacology

Marangi, Michele M; Pistritto, Giuseppa G

Publication Date: 2018

Variant appearance in text: CFTR: N287Y

PubMed Link: 29731717

Variant Present in the following documents:

• Main text
• fphar-09-00396.pdf

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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: N287Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Cystic fibrosis genetics: from molecular understanding to clinical application.

Nature Reviews. Genetics

Cutting, Garry R GR

Publication Date: 2015-01

Variant appearance in text: CFTR: N287Y

PubMed Link: 25404111

Variant Present in the following documents:

• Main text

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Cystic fibrosis transmembrane conductance regulator dysfunction and its treatment.

Journal Of The Royal Society Of Medicine

Hull, Jeremy J

Publication Date: 2012-06

Variant appearance in text: CFTR: N287Y

PubMed Link: 22688363

Variant Present in the following documents:

• Main text

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CFTR: folding, misfolding and correcting the ΔF508 conformational defect.

Trends In Molecular Medicine

Lukacs, Gergely L GL; Verkman, A S AS

Publication Date: 2012-02

Variant appearance in text: CFTR: N287Y

PubMed Link: 22138491

Variant Present in the following documents:

• Main text

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Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

Human Mutation

Krasnov, Kristina V KV; Tzetis, Maria M; Cheng, Jie J; Guggino, William B WB; Cutting, Garry R GR

Publication Date: 2008-11

Variant appearance in text: CFTR: N287Y

PubMed Link: 18951463

Variant Present in the following documents:

• Main text

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Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR.

The Journal Of Clinical Investigation

Thelin, William R WR; Chen, Yun Y; Gentzsch, Martina M; Kreda, Silvia M SM; Sallee, Jennifer L JL; Scarlett, Cameron O CO; Borchers, Christoph H CH; Jacobson, Ken K; Stutts, M Jackson MJ; Milgram, Sharon L SL

Publication Date: 2007-02

Variant appearance in text: CFTR: N287Y

PubMed Link: 17235394

Variant Present in the following documents:

• Main text

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Endocytic trafficking of CFTR in health and disease.

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

Ameen, Nadia N; Silvis, Mark M; Bradbury, Neil A NA

Publication Date: 2007-01

Variant appearance in text: CFTR: N287Y

PubMed Link: 17098482

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: N287Y

PubMed Link: 16049310

Variant Present in the following documents:

• Main text

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