Publications:

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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: H620Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Enhancing the Potency of F508del Correction: A Multi-Layer Combinational Approach to Drug Discovery for Cystic Fibrosis.

Journal Of Pharmacology & Clinical Toxicology

Kirby, Emily F EF; Heard, Ashley S AS; Wang, X Robert XR

Publication Date: 2013-08-28

Variant appearance in text: CFTR: H620Q

PubMed Link: 24855632

Variant Present in the following documents:

• Main text

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Structural changes of CFTR R region upon phosphorylation: a plastic platform for intramolecular and intermolecular interactions.

The Febs Journal

Bozoky, Zoltan Z; Krzeminski, Mickael M; Chong, P Andrew PA; Forman-Kay, Julie D JD

Publication Date: 2013-09

Variant appearance in text: CFTR: H620Q

PubMed Link: 23826884

Variant Present in the following documents:

• Main text
• febs-280-4407.pdf

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Conformational changes relevant to channel activity and folding within the first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator.

The Journal Of Biological Chemistry

Hudson, Rhea P RP; Chong, P Andrew PA; Protasevich, Irina I II; Vernon, Robert R; Noy, Efrat E; Bihler, Hermann H; An, Jian Li JL; Kalid, Ori O; Sela-Culang, Inbal I; Mense, Martin M; Senderowitz, Hanoch H; Brouillette, Christie G CG; Forman-Kay, Julie D JD

Publication Date: 2012-08-17

Variant appearance in text: CFTR: H620Q

PubMed Link: 22722932

Variant Present in the following documents:

• Main text

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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: H620Q

PubMed Link: 20932301

Variant Present in the following documents:

• Main text
• 1465-9921-11-140.pdf

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C terminus of nucleotide binding domain 1 contains critical features for cystic fibrosis transmembrane conductance regulator trafficking and activation.

The Journal Of Biological Chemistry

Billet, Arnaud A; Melin, Patricia P; Jollivet, Mathilde M; Mornon, Jean-Paul JP; Callebaut, Isabelle I; Becq, Frédéric F

Publication Date: 2010-07-16

Variant appearance in text: CFTR: H620Q

PubMed Link: 20435887

Variant Present in the following documents:

• Main text

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Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.

Nature

Choi, J Y JY; Muallem, D D; Kiselyov, K K; Lee, M G MG; Thomas, P J PJ; Muallem, S S

Publication Date: 2001-03-01

Variant appearance in text: CFTR: H620Q

PubMed Link: 11242048

Variant Present in the following documents:

• Main text

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