Publications:

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: ABCB4: 1207T>C; Tyr403His

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Ivacaftor-Mediated Potentiation of ABCB4 Missense Mutations Affecting Critical Motifs of the NBDs: Repositioning Perspectives for Hepatobiliary Diseases.

International Journal Of Molecular Sciences

Delaunay, Jean-Louis JL; Elbahnsi, Ahmad A; Bruneau, Alix A; Madry, Claire C; Durand-Schneider, Anne-Marie AM; Stary, Anne A; Housset, Chantal C; Gautheron, Jérémie J; Callebaut, Isabelle I; Aït-Slimane, Tounsia T

Publication Date: 2023-01-08

Variant appearance in text: ABCB4: Y403H

PubMed Link: 36674751

Variant Present in the following documents:

• Main text
• ijms-24-01236.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: ABCB4: 1207T>C; Tyr403His

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3.

Disease Markers

Saleem, Komal K; Cui, Qingbo Q; Zaib, Tahir T; Zhu, Siqi S; Qin, Qian Q; Wang, Yusi Y; Dam, Jinxi J; Ji, Wei W; Liu, Peng P; Jia, Xueyuan X; Wu, Jie J; Bai, Jing J; Fu, Songbin S; Sun, Wenjing W

Publication Date: 2020

Variant appearance in text: MDR3: Y403H

PubMed Link: 32626542

Variant Present in the following documents:

• Main text
• DM2020-6292818.pdf

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Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction.

European Journal Of Human Genetics : Ejhg

Degiorgio, Dario D; Corsetto, Paola A PA; Rizzo, Angela M AM; Colombo, Carla C; Seia, Manuela M; Costantino, Lucy L; Montorfano, Gigliola G; Tomaiuolo, Rossella R; Bordo, Domenico D; Sansanelli, Serena S; Li, Min M; Tavian, Daniela D; Rastaldi, Maria P MP; Coviello, Domenico A DA

Publication Date: 2014-05

Variant appearance in text: ABCB4: 1207T>C

PubMed Link: 24045840

Variant Present in the following documents:

• Main text

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