Publications:

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: Q1291H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

Mutating the Conserved Q-loop Glutamine 1291 Selectively Disrupts Adenylate Kinase-dependent Channel Gating of the ATP-binding Cassette (ABC) Adenylate Kinase Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) and Reduces Channel Function in Primary Human Airway Epithelia.

The Journal Of Biological Chemistry

Dong, Qian Q; Ernst, Sarah E SE; Ostedgaard, Lynda S LS; Shah, Viral S VS; Ver Heul, Amanda R AR; Welsh, Michael J MJ; Randak, Christoph O CO

Publication Date: 2015-05-29

Variant appearance in text: CFTR: Q1291H

PubMed Link: 25887396

Variant Present in the following documents:

• Main text
• zbc14140.pdf

View BVdb publication page

Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening.

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

Baker, Mei W MW; Groose, Molly M; Hoffman, Gary G; Rock, Michael M; Levy, Hara H; Farrell, Philip M PM

Publication Date: 2011-07

Variant appearance in text: CFTR: Q1291H

PubMed Link: 21388895

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: GLN1291HIS

PubMed Link: 19357641

Variant Present in the following documents:

• msb200916-s1.pdf

View BVdb publication page

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

American Journal Of Human Genetics

Le Saux, O O; Beck, K K; Sachsinger, C C; Silvestri, C C; Treiber, C C; Göring, H H HH; Johnson, E W EW; De Paepe, A A; Pope, F M FM; Pasquali-Ronchetti, I I; Bercovitch, L L; Marais, A S AS; Viljoen, D L DL; Terry, S F SF; Boyd, C D CD

Publication Date: 2001-10

Variant appearance in text: ABCC7: Q1291H

PubMed Link: 11536079

Variant Present in the following documents:

• Main text

View BVdb publication page