Turner syndrome is a rare genetic disorder found in some women and people assigned female at birth. It can cause short stature and a range of health issues including heart defects, learning ...

“Chanarin–Dorfman Syndrome”, “Dorfman–Chanarin syndrome”, “congenital ichthyosiform erythroderma”, “neutral lipid storage disorder”, “ABHD5/CGI-58 mutation” and “Jordan’s anomaly”. The patients’ race, ...

Methods We examined the UBA1 gene ... a new mutation p.Gly477Ala (c.1430G>C) in exon 14 that has not yet been identified. The presence of these variants and their allelic forms (heterozygous / ...

Although few dysfunctional proteins could result in abnormal junction between the head and tail of spermatozoon, little is known about the genetic cues in this process. Objective Based on patients ...

The genetic basis for hypermobile Ehlers-Danlos syndrome (hEDS) remains unknown. Methods Whole exome sequencing (WES ... We identified a novel SCN9A variant 27, at a transmembrane domain mutation ...

Layna Lou Durocher is an 18-month-old girl who was born with a rare gene mutation which makes her care very complex. Sydney Gardiner, Lanya’s mother, shares her story and the toll the condition ...

Taysha Gene Therapies' TSHA-102 tackles Rett syndrome’s root cause with its ... as it specifically targets the MECP2 mutation present in Rett. As far as we know, Rett occurs in roughly 1 out ...

Figure 3: ORNT1 expression restores incorporation of ornithine radiolabel into cellular protein in HHH fibroblasts. Figure 6: Two-colour FISH analysis of a metaphase chromosome spread from HHH011 ...

A research team has identified the core gene expression networks regulated by key proteins that fundamentally drive phenomena such as cancer development, metastasis, tissue differentiation from ...

It’s not much of a hyperbole to say that Chris Claremont created the modern X-Men as we think of them today. So we get excited any time Claremont returns to Marvel’s Merry Mutants, especially ...