ITGA9 c.2722C>G ;(p.L908V)

Variant ID: 3-37821447-C-G

NM_002207.2(ITGA9):c.2722C>G;(p.L908V)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.

Frontiers In Physiology
Kawana, Masataka M; Spudich, James A JA; Ruppel, Kathleen M KM
Publication Date: 2022

Variant appearance in text: RLC: L908V
PubMed Link: 36225299
Variant Present in the following documents:
  • fphys-13-975076.pdf
View BVdb publication page



Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy.

International Journal Of Molecular Sciences
Ušaj, Marko M; Moretto, Luisa L; Månsson, Alf A
Publication Date: 2022-02-16

Variant appearance in text: RLC: L908V
PubMed Link: 35216312
Variant Present in the following documents:
  • Main text
  • ijms-23-02195.pdf
View BVdb publication page



Alpha and beta myosin isoforms and human atrial and ventricular contraction.

Cellular And Molecular Life Sciences : Cmls
Walklate, Jonathan J; Ferrantini, Cecilia C; Johnson, Chloe A CA; Tesi, Chiara C; Poggesi, Corrado C; Geeves, Michael A MA
Publication Date: 2021-12

Variant appearance in text: RLC: L908V
PubMed Link: 34704115
Variant Present in the following documents:
  • 18_2021_Article_3971.pdf
View BVdb publication page



Alpha and beta myosin isoforms and human atrial and ventricular contraction.

Cellular And Molecular Life Sciences : Cmls
Walklate, Jonathan J; Ferrantini, Cecilia C; Johnson, Chloe A CA; Tesi, Chiara C; Poggesi, Corrado C; Geeves, Michael A MA
Publication Date: 2021-12

Variant appearance in text: RLC: L908V
PubMed Link: 34704115
Variant Present in the following documents:
  • 18_2021_Article_3971.pdf
View BVdb publication page



Cardiac myosin contraction and mechanotransduction in health and disease.

The Journal Of Biological Chemistry
Barrick, Samantha K SK; Greenberg, Michael J MJ
Publication Date: 2021-11

Variant appearance in text: RLC: L908V
PubMed Link: 34634306
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Complexity in genetic cardiomyopathies and new approaches for mechanism-based precision medicine.

The Journal Of General Physiology
Greenberg, Michael J MJ; Tardiff, Jil C JC
Publication Date: 2021-03-01

Variant appearance in text: RLC: L908V
PubMed Link: 33512404
Variant Present in the following documents:
  • JGP_202012662.pdf
View BVdb publication page



β-Cardiac myosin hypertrophic cardiomyopathy mutations release sequestered heads and increase enzymatic activity.

Nature Communications
Adhikari, Arjun S AS; Trivedi, Darshan V DV; Sarkar, Saswata S SS; Song, Dan D; Kooiker, Kristina B KB; Bernstein, Daniel D; Spudich, James A JA; Ruppel, Kathleen M KM
Publication Date: 2019-06-18

Variant appearance in text: RLC: L908V
PubMed Link: 31213605
Variant Present in the following documents:
  • 41467_2019_Article_10555.pdf
View BVdb publication page



The Molecular Mechanisms of Mutations in Actin and Myosin that Cause Inherited Myopathy.

International Journal Of Molecular Sciences
Marston, Steven S
Publication Date: 2018-07-11

Variant appearance in text: RLC: L908V
PubMed Link: 29997361
Variant Present in the following documents:
  • Main text
  • ijms-19-02020.pdf
View BVdb publication page



Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Elife
Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R
Publication Date: 2017-06-13

Variant appearance in text: RLC: L908V
PubMed Link: 28606303
Variant Present in the following documents:
  • Main text
  • elife-24634.pdf
View BVdb publication page



To understand muscle you must take it apart.

Frontiers In Physiology
Batters, Christopher C; Veigel, Claudia C; Homsher, Earl E; Sellers, James R JR
Publication Date: 2014

Variant appearance in text: RLC: L908V
PubMed Link: 24653704
Variant Present in the following documents:
  • fphys-05-00090.pdf
View BVdb publication page



Understanding cardiomyopathy phenotypes based on the functional impact of mutations in the myosin motor.

Circulation Research
Moore, Jeffrey R JR; Leinwand, Leslie L; Warshaw, David M DM
Publication Date: 2012-07-20

Variant appearance in text: RLC: L908V
PubMed Link: 22821910
Variant Present in the following documents:
  • Main text
View BVdb publication page



Head-head and head-tail interaction: a general mechanism for switching off myosin II activity in cells.

Molecular Biology Of The Cell
Jung, Hyun Suk HS; Komatsu, Satoshi S; Ikebe, Mitsuo M; Craig, Roger R
Publication Date: 2008-08

Variant appearance in text: RLC: L908V
PubMed Link: 18495867
Variant Present in the following documents:
  • Main text
View BVdb publication page