Browsing by Subject "genetic code"
Now showing items 1-5 of 5
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Article
Autosomal dominant tubulointerstitial kidney disease: Diagnosis, classification, and management - A KDIGO consensus report
(2015)Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been ...
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Article
Hedgehog restricts its expression domain in the Drosophila wing
(2007)The stable subdivision of Drosophila limbs into anterior and posterior compartments is a consequence of asymmetrical signalling by Hedgehog (Hh), from the posterior to anterior cells. The activity of the homeodomain protein ...
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Article
Increased number of MicroRNA target sites in genes encoded in CNV regions. Evidence for an evolutionary genomic interaction
(2011)MicroRNAs (miRNAs) and copy number variations (CNVs) are two newly discovered genetic elements that have revolutionized the field of molecular biology and genetics. By performing in silico whole genome analysis, we demonstrate ...
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Article
MicroRNAs: A newly described class of encoded molecules that play a role in health and disease
(2010)14(4): 236-240.
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Article
Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families
(2001)The autosomal dominant form of polycystic kidney disease is a very frequent genetically heterogeneous inherited condition affecting approximately 1: 1000 individuals of the Caucasian population. The main symptom is the ...