Donkervoort(Sandra),Hu(Ying),Stojkovic(Tan... Hum Mutat 2015-09-10

...COL6A3) in genomic DNA from various tissues, including blood, dermal fibroblasts, and saliva. Consistent with somatic mo...

Kwon(Haeyoung),Lee(Yun Sub),Kim(Myung Ok),... Cell Biochem Funct 2015-10-05

...COL6A3. The pattern of gene expression regulated by mAAPV was very similar to that of gene expression induced by transfo...

Maekawa(Ryo),Sato(Shun),Yamagata(Yoshiaki)... PLoS One 2014-01-30

...COL6A3. We also detected 22 target genes of estrogen receptor (ER) alpha, including apoptosis-related genes, that have a...

Butterfield(Russell J),Foley(A Reghan),Das... Hum Mutat 2014-05-08

...COL6A3 and add a review of 97 published cases, for a total of 194 cases. Clinical findings include severe, INT, and mild...

Fitzgerald(Jamie),Holden(Paul),Hansen(Uwe) Connect Tissue Res 2014-06-18

...COL6A3 genes, were first described more than 20 years ago. Their molecular assembly and role in congenital muscular dyst...

Hicks(Debbie),Farsani(Golara Torabi),Laval... Hum Mol Genet 2014-12-17

...COL6A3). However, there may be additional causal genes to identify as in ∼50% of BM cases no mutations in the COL6 genes...

Hsieh(Chiu-Lan),Chen(Kuan-Chou),Ding(Chi-Y... Rom J Morphol Embryol 2014-07-02

...COL6A3), endothelin receptor type b gene (EDNRB), and Krüppel-like factor 6 gene (KLF6) substantially downregulated in r...

Martianov(Igor),Cler(Emilie),Duluc(Isabell... PLoS One 2014-12-03

...Col6a3 expression independently of TAF4 expression and Col6a3 silencing is sufficient to restore contact inhibition in T...

Bushby(Kate M D),Collins(James),Hicks(Debbie) Adv Exp Med Biol 2014-05-29

...COL6A3 cause two main types of muscle disorders: Ullrich congenital muscular dystrophy, a severe phenotype, and a mild t...

Geng(Qian),Xie(Jian-sheng),Wu(Wei-qing),Lu... Zhonghua Er Ke Za Zhi 2014-09-04

...COL6A3 toPDCD1) was detected by array-CGH. The results of MLPA and G banded karyotyping confirmed the existence of this ...