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: 1603C>A; Pro535Thr

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies.

International Journal Of Molecular Sciences

Agudelo, William A WA; Gil-Quiñones, Sebastian Ramiro SR; Fonseca, Alejandra A; Arenas, Alvaro A; Castro, Laura L; Sierra-Díaz, Diana Carolina DC; Patarroyo, Manuel A MA; Laissue, Paul P; Suárez, Carlos F CF; Cabrera, Rodrigo R

Publication Date: 2021-11-28

Variant appearance in text: KCNQ1: Pro535Thr

PubMed Link: 34884666

Variant Present in the following documents:

• Main text
• ijms-22-12861.pdf

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Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies.

International Journal Of Molecular Sciences

Agudelo, William A WA; Gil-Quiñones, Sebastian Ramiro SR; Fonseca, Alejandra A; Arenas, Alvaro A; Castro, Laura L; Sierra-Díaz, Diana Carolina DC; Patarroyo, Manuel A MA; Laissue, Paul P; Suárez, Carlos F CF; Cabrera, Rodrigo R

Publication Date: 2021-11-28

Variant appearance in text: KCNQ1: Pro535Thr

PubMed Link: 34884666

Variant Present in the following documents:

• Main text
• ijms-22-12861.pdf

View BVdb publication page

Compound Heterozygous KCNQ1 Mutations Causing Recessive Romano-Ward Syndrome: Functional Characterization by Mutant Co-expression.

Frontiers In Cardiovascular Medicine

González-Garrido, Antonia A; Domínguez-Pérez, Mayra M; Jacobo-Albavera, Leonor L; López-Ramírez, Omar O; Guevara-Chávez, José Guadalupe JG; Zepeda-García, Oscar O; Iturralde, Pedro P; Carnevale, Alessandra A; Villarreal-Molina, Teresa T

Publication Date: 2021

Variant appearance in text: KCNQ1: P535T

PubMed Link: 33693037

Variant Present in the following documents:

• Main text
• fcvm-08-625449.pdf

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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: P535T

PubMed Link: 30669290

Variant Present in the following documents:

• Main text
• ijms-20-00400.pdf

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