Human 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome.
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ABSTRACT:
SUBMITTER: Rajpathak SN
PROVIDER: S-EPMC4059722 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Publications
Human 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome.
Rajpathak Shriram N SN Vellarikkal Shamsudheen Karuthedath SK Patowary Ashok A Scaria Vinod V Sivasubbu Sridhar S Deobagkar Deepti D DD
PloS one 20140616 6
Turner syndrome is a chromosomal abnormality characterized by the absence of whole or part of the X chromosome in females. This X aneuploidy condition is associated with a diverse set of clinical phenotypes such as gonadal dysfunction, short stature, osteoporosis and Type II diabetes mellitus, among others. These phenotypes differ in their severity and penetrance among the affected individuals. Haploinsufficiency for a few X linked genes has been associated with some of these disease phenotypes. ...[more]
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