Publications:

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Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Signal Transduction And Targeted Therapy

Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y

Publication Date: 2021-02-10

Variant appearance in text: CFTR: Gly85Arg

PubMed Link: 33563892

Variant Present in the following documents:

• 41392_2020_412_MOESM7_ESM.xlsx, sheet 1

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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: G85R

PubMed Link: 28830496

Variant Present in the following documents:

• Main text

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The relevance of contact-independent cell-to-cell transfer of TDP-43 and SOD1 in amyotrophic lateral sclerosis.

Biochimica Et Biophysica Acta. Molecular Basis Of Disease

Hanspal, Maya A MA; Dobson, Christopher M CM; Yerbury, Justin J JJ; Kumita, Janet R JR

Publication Date: 2017-11

Variant appearance in text: CFTR: G85R

PubMed Link: 28711596

Variant Present in the following documents:

• Main text

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Divergent signaling via SUMO modification: potential for CFTR modulation.

American Journal Of Physiology. Cell Physiology

Ahner, Annette A; Gong, Xiaoyan X; Frizzell, Raymond A RA

Publication Date: 2016-02-01

Variant appearance in text: CFTR: G85R

PubMed Link: 26582473

Variant Present in the following documents:

• Main text

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Lysosomal and phagocytic activity is increased in astrocytes during disease progression in the SOD1 (G93A) mouse model of amyotrophic lateral sclerosis.

Frontiers In Cellular Neuroscience

Baker, David J DJ; Blackburn, Daniel J DJ; Keatinge, Marcus M; Sokhi, Dilraj D; Viskaitis, Paulius P; Heath, Paul R PR; Ferraiuolo, Laura L; Kirby, Janine J; Shaw, Pamela J PJ

Publication Date: 2015

Variant appearance in text: CFTR/MRP: G85R

PubMed Link: 26528138

Variant Present in the following documents:

• fncel-09-00410.pdf

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The potential of GPNMB as novel neuroprotective factor in amyotrophic lateral sclerosis.

Scientific Reports

Tanaka, Hirotaka H; Shimazawa, Masamitsu M; Kimura, Masataka M; Takata, Masafumi M; Tsuruma, Kazuhiro K; Yamada, Mitsunori M; Takahashi, Hitoshi H; Hozumi, Isao I; Niwa, Jun-ichi J; Iguchi, Yohei Y; Nikawa, Takeshi T; Sobue, Gen G; Inuzuka, Takashi T; Hara, Hideaki H

Publication Date: 2012

Variant appearance in text: CFTR/MRP: G85R

PubMed Link: 22891158

Variant Present in the following documents:

• srep00573-s1.pdf

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Abnormal SDS-PAGE migration of cytosolic proteins can identify domains and mechanisms that control surfactant binding.

Protein Science : A Publication Of The Protein Society

Shi, Yunhua Y; Mowery, Richard A RA; Ashley, Jonathan J; Hentz, Michelle M; Ramirez, Alejandro J AJ; Bilgicer, Basar B; Slunt-Brown, Hilda H; Borchelt, David R DR; Shaw, Bryan F BF

Publication Date: 2012-08

Variant appearance in text: CFTR: G85R

PubMed Link: 22692797

Variant Present in the following documents:

• Main text

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A cellular perspective on conformational disease: the role of genetic background and proteostasis networks.

Current Opinion In Structural Biology

Gidalevitz, Tali T; Kikis, Elise A EA; Morimoto, Richard I RI

Publication Date: 2010-02

Variant appearance in text: CFTR: G85R

PubMed Link: 20053547

Variant Present in the following documents:

• Main text

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Modulating the expression of disease genes with RNA-based therapy.

Plos Genetics

Wood, Matthew M; Yin, Haifang H; McClorey, Graham G

Publication Date: 2007-06

Variant appearance in text: CFTR: G85R

PubMed Link: 17604456

Variant Present in the following documents:

• Main text

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Formation of high molecular weight complexes of mutant Cu, Zn-superoxide dismutase in a mouse model for familial amyotrophic lateral sclerosis.

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

Johnston, J A JA; Dalton, M J MJ; Gurney, M E ME; Kopito, R R RR

Publication Date: 2000-11-07

Variant appearance in text: CFTR: G85R

PubMed Link: 11050163

Variant Present in the following documents:

• Main text

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