Publications:

---

SNPs in lncRNA KCNQ1OT1 Modulate Its Expression and Confer Susceptibility to Salt Sensitivity of Blood Pressure in a Chinese Han Population.

Nutrients

Xie, Yunyi Y; Qi, Han H; Peng, Wenjuan W; Li, Bingxiao B; Wen, Fuyuan F; Zhang, Fengxu F; Zhang, Ling L

Publication Date: 2022-09-26

Variant appearance in text: rs12577654

PubMed Link: 36235643

Variant Present in the following documents:

• Main text
• nutrients-14-03990.pdf

View BVdb publication page

---

Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: KCNQ1: 1514+18C>T; rs12577654

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

---

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: KCNQ1: 1514+18C>T; rs12577654

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

---

Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients.

Endocrine Connections

Iivonen, Anna-Pauliina AP; Känsäkoski, Johanna J; Karppinen, Atte A; Kivipelto, Leena L; Schalin-Jäntti, Camilla C; Karhu, Auli A; Raivio, Taneli T

Publication Date: 2018-05

Variant appearance in text: KCNQ1: 1514+18C>T; rs12577654

PubMed Link: 29703730

Variant Present in the following documents:

• ec-7-645-t002.pdf

View BVdb publication page

---

Comprehensive mutation scanning of KCNQ1 in 111 Han Chinese patients with lone atrial fibrillation.

Heart Asia

Chen, Lin Y LY; Goh, June M JM; Wong, Raymond C RC; Hsu, Li-Fern LF; Foo, David D; Benditt, David G DG; Ling, Lieng H LH; Heng, Chew K CK

Publication Date: 2010

Variant appearance in text: rs12577654

PubMed Link: 27325960

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Polymorphisms but not mutations of the KCNQ1 gene are associated with lone atrial fibrillation in the Chinese Han population.

Thescientificworldjournal

Chu, Hui-min HM; Feng, Ming-jun MJ; Li, Yi-gang YG; Zhang, Yi-xin YX; Ma, Ji-fang JF; He, Bin B; Yu, Yi-bo YB; Liu, Jing J; Chen, Xiao-min XM

Publication Date: 2013

Variant appearance in text: rs12577654

PubMed Link: 23710137

Variant Present in the following documents:

• Main text
• TSWJ2013-373454.pdf

View BVdb publication page

---