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 ...

Nat Clin Pract Gastroenterol Hepatol. 2005;2(11):536-544. The integrity of the mucosa depends on the balance between 'aggressive' and 'defensive' factors. Although some of the work discussed ...

Methods We examined the UBA1 gene in 9 patients with clinically suspected VEXAS syndrome. We first focused on variants p.Met41Val, p.Met41Thr and p.Met41Leu with a known association with this disease ...

snu.ac.kr Objective Metabolic syndrome (MetS) arises from complex interactions between host genetic and environmental factors. Although it is now widely accepted that the gut microbiota plays a ...

The genetic basis for hypermobile Ehlers-Danlos syndrome (hEDS) remains unknown. Methods Whole exome sequencing (WES) was undertaken on 174 EDS patients recruited from a national diagnostic service ...

How might it impact on clinical practice in the foreseeable future? These studies provide a mechanistic basis for the unexplained observation of functional NOD2 defects in the absence of genetic NOD2 ...

Objectives Mutations in the X-linked endosomal Na+/H+ exchanger 6 (NHE6) cause Christianson syndrome (CS). Here, in the largest study to date, we examine genetic diversity and clinical progression in ...

Taysha Gene Therapies' TSHA-102 tackles Rett syndrome’s root cause with its miniMECP2 transgene and scAAV delivery. So far, this is TSHA’s main value driver, and it appears safe and effective ...

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 ...

An Italian family hit hard by Alzheimer’s offers clues about a potential genetic cause of the neurodegenerative disease, a new study has found. In a family of 15 people in northern Italy ...