Publications:

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The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications

Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM

Publication Date: 2022-06-29

Variant appearance in text: KCNQ1: 1578G>C; Lys526Asn

PubMed Link: 35768438

Variant Present in the following documents:

• 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1

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Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.

Communications Biology

Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB

Publication Date: 2021-12-14

Variant appearance in text: KCNQ1: K526N

PubMed Link: 34907346

Variant Present in the following documents:

• Main text
• 42003_2021_Article_2909.pdf

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Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.

Communications Biology

Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB

Publication Date: 2021-12-14

Variant appearance in text: KCNQ1: K526N

PubMed Link: 34907346

Variant Present in the following documents:

• Main text
• 42003_2021_Article_2909.pdf

View BVdb publication page

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The Crossroad of Ion Channels and Calmodulin in Disease.

International Journal Of Molecular Sciences

Urrutia, Janire J; Aguado, Alejandra A; Muguruza-Montero, Arantza A; Núñez, Eider E; Malo, Covadonga C; Casis, Oscar O; Villarroel, Alvaro A

Publication Date: 2019-01-18

Variant appearance in text: LQT1: K526N

PubMed Link: 30669290

Variant Present in the following documents:

• Main text
• ijms-20-00400.pdf

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Lack of correlation between surface expression and currents in epileptogenic AB-calmodulin binding domain Kv7.2 potassium channel mutants.

Channels (Austin, Tex.)

Alaimo, Alessandro A; Etxeberria, Ainhoa A; Gómez-Posada, Juan Camilo JC; Gomis-Perez, Carolina C; Fernández-Orth, Juncal J; Malo, Covadonga C; Villarroel, Alvaro A

Publication Date: 2018

Variant appearance in text: Kv7.1: K526N

PubMed Link: 30126342

Variant Present in the following documents:

• Main text
• kchl-12-01-1511512.pdf

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Competition of calcified calmodulin N lobe and PIP2 to an LQT mutation site in Kv7.1 channel.

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

Tobelaim, William Sam WS; Dvir, Meidan M; Lebel, Guy G; Cui, Meng M; Buki, Tal T; Peretz, Asher A; Marom, Milit M; Haitin, Yoni Y; Logothetis, Diomedes E DE; Hirsch, Joel Alan JA; Attali, Bernard B

Publication Date: 2017-01-31

Variant appearance in text: Kv7.1: K526N

PubMed Link: 28096388

Variant Present in the following documents:

• Main text

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In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.

Nucleic Acids Research

Sahashi, Kentaro K; Masuda, Akio A; Matsuura, Tohru T; Shinmi, Jun J; Zhang, Zhujun Z; Takeshima, Yasuhiro Y; Matsuo, Masafumi M; Sobue, Gen G; Ohno, Kinji K

Publication Date: 2007

Variant appearance in text: KCNQ1: K526N

PubMed Link: 17726045

Variant Present in the following documents:

• nar_gkm647_3.pdf

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