Regulator of Calcineurin 1 (RCAN1) gene deactivation has been found to contribute to the epidemic of obesity. RCAN1 is located…
Genetic Variants
interpreting the genome
PCF11 gene regulates many pathways in neuroblastoma tissues by a process called alternative polyadenylation (APA). Brain tumors of infants and…
Three patients with complex immune disorder have been found to possess mutations within IKBKB gene sequence. The findings join family…
Rare syndrome named Warburg-Cinotti was discovered in 2006 and recently its genetic basis have been uncovered using exome sequencing. DDR2…
An analysis of 18 individuals with intellectual disability and macrocephaly has pointed to alterations of NFIB gene. NFIB gene product…
The most extensive study of post-traumatic stress disorder (PTSD) – involving 27.5 thousand cases – has linked the risk of…
A study of rare disorder hypotrichosis simplex has pointed to LSS gene as essential in a hair loss process. The…
An analysis of 62 families with cases of polycystic ovary syndrome has associated rare variants of DENND1A gene with the…
Broad cluster of positive and negative regulatory genes was found influence microexons – genome element with a possible role in…
Approximately half of brain cancer diseases with epilepsy symptoms may be associated with mutations in BRAF-V600E gene. A study found…