PC c.1824A>C ;(p.G608=)

Variant ID: 11-66619911-T-G

NM_001040716.1(PC):c.1824A>C;(p.G608=)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Vascular Calcification in Chronic Kidney Disease: An Update and Perspective.

Aging And Disease
Ren, Si-Chong SC; Mao, Nan N; Yi, Si S; Ma, Xin X; Zou, Jia-Qiong JQ; Tang, Xiaoqiang X; Fan, Jun-Ming JM
Publication Date: 2022-06

Variant appearance in text: PC: G608G
PubMed Link: 35656113
Variant Present in the following documents:
  • ad-13-3-673.pdf
View BVdb publication page



Induced Pluripotent Stem Cell-Derived Mesenchymal Stem Cells Hold Lower Heterogeneity and Great Promise in Biological Research and Clinical Applications.

Frontiers In Cell And Developmental Biology
Zhang, Juan J; Chen, Mingzhuang M; Liao, Jinqi J; Chang, Chongfei C; Liu, Yuqing Y; Padhiar, Arshad Ahmed AA; Zhou, Yan Y; Zhou, Guangqian G
Publication Date: 2021

Variant appearance in text: PC: G608G
PubMed Link: 34660579
Variant Present in the following documents:
  • Main text
  • fcell-09-716907.pdf
View BVdb publication page



Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation.

Journal Of Applied Genetics
Sowińska-Seidler, Anna A; Olech, Ewelina M EM; Socha, Magdalena M; Larysz, Dawid D; Jamsheer, Aleksander A
Publication Date: 2018-08

Variant appearance in text: PC: G608G
PubMed Link: 29845577
Variant Present in the following documents:
  • 13353_2018_Article_447.pdf
View BVdb publication page



MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation.

Embo Molecular Medicine
Harhouri, Karim K; Navarro, Claire C; Depetris, Danielle D; Mattei, Marie-Geneviève MG; Nissan, Xavier X; Cau, Pierre P; De Sandre-Giovannoli, Annachiara A; Lévy, Nicolas N
Publication Date: 2017-09

Variant appearance in text: PC: Gly608Gly
PubMed Link: 28674081
Variant Present in the following documents:
  • Main text
View BVdb publication page



Permanent farnesylation of lamin A mutants linked to progeria impairs its phosphorylation at serine 22 during interphase.

Aging
Moiseeva, Olga O; Lopes-Paciencia, Stéphane S; Huot, Geneviève G; Lessard, Frédéric F; Ferbeyre, Gerardo G
Publication Date: 2016-02

Variant appearance in text: PC: G608G
PubMed Link: 26922519
Variant Present in the following documents:
  • aging-08-366.pdf
View BVdb publication page



Insights into the role of immunosenescence during varicella zoster virus infection (shingles) in the aging cell model.

Oncotarget
Kim, Ji-Ae JA; Park, Seul-Ki SK; Kumar, Mukesh M; Lee, Chan-Hee CH; Shin, Ok Sarah OS
Publication Date: 2015-11-03

Variant appearance in text: PC: G608G
PubMed Link: 26473290
Variant Present in the following documents:
  • oncotarget-06-35324.pdf
View BVdb publication page



An upregulation in the expression of vanilloid transient potential channels 2 enhances hypotonicity-induced cytosolic Ca²⁺ rise in human induced pluripotent stem cell model of Hutchinson-Gillford Progeria.

Plos One
Lo, Chun-Yin CY; Tjong, Yung-Wui YW; Ho, Jenny Chung-Yee JC; Siu, Chung-Wah CW; Cheung, Sin-Ying SY; Tang, Nelson L NL; Yu, Shan S; Tse, Hung-Fat HF; Yao, Xiaoqiang X
Publication Date: 2014

Variant appearance in text: PC: G608G
PubMed Link: 24475260
Variant Present in the following documents:
  • pone.0087273.pdf
View BVdb publication page



Identification of target antigens of anti-endothelial cell and anti-vascular smooth muscle cell antibodies in patients with giant cell arteritis: a proteomic approach.

Arthritis Research & Therapy
Régent, Alexis A; Dib, Hanadi H; Ly, Kim H KH; Agard, Christian C; Tamby, Mathieu C MC; Tamas, Nicolas N; Weksler, Babette B; Federici, Christian C; Broussard, Cédric C; Guillevin, Loïc L; Mouthon, Luc L
Publication Date: 2011-06-28

Variant appearance in text: PC: G608G
PubMed Link: 21711540
Variant Present in the following documents:
  • ar3388.pdf
View BVdb publication page



Genomic features defining exonic variants that modulate splicing.

Genome Biology
Woolfe, Adam A; Mullikin, James C JC; Elnitski, Laura L
Publication Date: 2010

Variant appearance in text: PC: G608G
PubMed Link: 20158892
Variant Present in the following documents:
  • gb-2010-11-2-r20.pdf
View BVdb publication page