HR c.3166G>A ;(p.V1056M)

Variant ID: 8-21976510-C-T

NM_005144.4(HR):c.3166G>A;(p.V1056M)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


HR Gene Variants Identified in Mexican Patients with Alopecia Areata.

Current Issues In Molecular Biology
Ortiz-Ramírez, Andrés A; Hernández-Jiménez, María Cristina MC; Guardiola-Avila, Iliana Berenice IB; De Luna-Santillana, Erick de Jesús EJ; Oliva-Hernández, Amanda Alejandra AA; Altamirano-García, María Lourdes ML; Juárez-Rendón, Karina Janett KJ
Publication Date: 2023-04-03

Variant appearance in text: HR: V1056M
PubMed Link: 37185718
Variant Present in the following documents:
  • Main text
  • cimb-45-00194.pdf
View BVdb publication page



Control of Breast Cancer Pathogenesis by Histone Methylation and the Hairless Histone Demethylase.

Endocrinology
Trager, Megan H MH; Sah, Bindeshwar B; Chen, Zhongming Z; Liu, Liang L
Publication Date: 2021-08-01

Variant appearance in text: HR: V1056M
PubMed Link: 33928351
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hairless is a histone H3K9 demethylase.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Liu, Liang L; Kim, Hyunmi H; Casta, Alex A; Kobayashi, Yuki Y; Shapiro, Lawrence S LS; Christiano, Angela M AM
Publication Date: 2014-04

Variant appearance in text: HR: V1056M
PubMed Link: 24334705
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of hairless corepressor mutants to characterize molecular cooperation with the vitamin D receptor in promoting the mammalian hair cycle.

Journal Of Cellular Biochemistry
Hsieh, Jui-Cheng JC; Slater, Stephanie A SA; Whitfield, G Kerr GK; Dawson, Jamie L JL; Hsieh, Grace G; Sheedy, Craig C; Haussler, Carol A CA; Haussler, Mark R MR
Publication Date: 2010-06-01

Variant appearance in text: HR: V1056M
PubMed Link: 20512927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hairless is a nuclear receptor corepressor essential for skin function.

Nuclear Receptor Signaling
Thompson, Catherine C CC
Publication Date: 2009-12-31

Variant appearance in text: HR: V1056M
PubMed Link: 20087431
Variant Present in the following documents:
  • Main text
  • nrs07010000.pdf
View BVdb publication page



Mutations in the hairless gene underlie APL in three families of Pakistani origin.

Journal Of Dermatological Science
Kraemer, Liv L; Wajid, Muhammad M; Shimomura, Yutaka Y; Christiano, Angela M AM
Publication Date: 2008-04

Variant appearance in text: HR: V1056M
PubMed Link: 18164595
Variant Present in the following documents:
  • Main text
View BVdb publication page