Publications:

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

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

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: KCNQ1: 1106C>T; Pro369Leu

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel.

International Journal Of Molecular Sciences

Bauer, Christiane K CK; Holling, Tess T; Horn, Denise D; Laço, Mário Nôro MN; Abdalla, Ebtesam E; Omar, Omneya Magdy OM; Alawi, Malik M; Kutsche, Kerstin K

Publication Date: 2022-08-26

Variant appearance in text: KCNQ1: 1106C>T

PubMed Link: 36077086

Variant Present in the following documents:

• Main text
• ijms-23-09690.pdf

View BVdb publication page

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: P369L

PubMed Link: 30669290

Variant Present in the following documents:

• Main text
• ijms-20-00400.pdf

View BVdb publication page

The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.

Frontiers In Endocrinology

Huttunen, Heta H; Hero, Matti M; Lääperi, Mitja M; Känsäkoski, Johanna J; Swan, Heikki H; Hirsch, Joel A JA; Miettinen, Päivi J PJ; Raivio, Taneli T

Publication Date: 2018

Variant appearance in text: KCNQ1: Pro369Leu

PubMed Link: 29740400

Variant Present in the following documents:

• Main text
• fendo-09-00194.pdf

View BVdb publication page

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.

Nature Communications

Tommiska, Johanna J; Känsäkoski, Johanna J; Skibsbye, Lasse L; Vaaralahti, Kirsi K; Liu, Xiaonan X; Lodge, Emily J EJ; Tang, Chuyi C; Yuan, Lei L; Fagerholm, Rainer R; Kanters, Jørgen K JK; Lahermo, Päivi P; Kaunisto, Mari M; Keski-Filppula, Riikka R; Vuoristo, Sanna S; Pulli, Kristiina K; Ebeling, Tapani T; Valanne, Leena L; Sankila, Eeva-Marja EM; Kivirikko, Sirpa S; Lääperi, Mitja M; Casoni, Filippo F; Giacobini, Paolo P; Phan-Hug, Franziska F; Buki, Tal T; Tena-Sempere, Manuel M; Pitteloud, Nelly N; Veijola, Riitta R; Lipsanen-Nyman, Marita M; Kaunisto, Kari K; Mollard, Patrice P; Andoniadou, Cynthia L CL; Hirsch, Joel A JA; Varjosalo, Markku M; Jespersen, Thomas T; Raivio, Taneli T

Publication Date: 2017-11-03

Variant appearance in text: KCNQ1: P369L

PubMed Link: 29097701

Variant Present in the following documents:

• Main text
• 41467_2017_Article_1429.pdf
• 41467_2017_1429_MOESM1_ESM.pdf
• 41467_2017_1429_MOESM2_ESM.pdf

View BVdb publication page