Publications:

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 757T>G; Ser253Ala

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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A PIP2 substitute mediates voltage sensor-pore coupling in KCNQ activation.

Communications Biology

Liu, Yongfeng Y; Xu, Xianjin X; Gao, Junyuan J; Naffaa, Moawiah M MM; Liang, Hongwu H; Shi, Jingyi J; Wang, Hong Zhan HZ; Yang, Nien-Du ND; Hou, Panpan P; Zhao, Wenshan W; White, Kelli McFarland KM; Kong, Wenjuan W; Dou, Alex A; Cui, Amy A; Zhang, Guohui G; Cohen, Ira S IS; Zou, Xiaoqin X; Cui, Jianmin J

Publication Date: 2020-07-16

Variant appearance in text: KCNQ1: S253A

PubMed Link: 32678288

Variant Present in the following documents:

• 42003_2020_1104_MOESM2_ESM.xlsx, sheet 1
• 42003_2020_1104_MOESM1_ESM.pdf

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Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.

Biophysical Journal

Ma, Li-Juan LJ; Ohmert, Iris I; Vardanyan, Vitya V

Publication Date: 2011-02-16

Variant appearance in text: KCNQ1: S253A

PubMed Link: 21320432

Variant Present in the following documents:

• Main text

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The S4-S5 linker of KCNQ1 channels forms a structural scaffold with the S6 segment controlling gate closure.

The Journal Of Biological Chemistry

Labro, Alain J AJ; Boulet, Inge R IR; Choveau, Frank S FS; Mayeur, Evy E; Bruyns, Tine T; Loussouarn, Gildas G; Raes, Adam L AL; Snyders, Dirk J DJ

Publication Date: 2011-01-07

Variant appearance in text: KCNQ1: S253A

PubMed Link: 21059661

Variant Present in the following documents:

• Main text

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