Results 51 to 60 of about 944,231 (329)
Orphanet Journal of Rare Diseases, 2014 BackgroundX-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-function ...
M. Synofzik +9 more
semanticscholar +1 more source
Clinical Genetics, 2023 AbstractFemale carriers of X‐linked inherited retinal diseases (IRDs) are burdened with potentially passing their disease‐causing variant to future generations, as well as exhibiting signs of retinal disease themselves. This study aimed to investigate carriers' experiences of genetic testing, emotions relating to having affected children, and their ...
Sena A. Gocuk +3 more
openaire +3 more sources
Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene. [PDF]
, 2017 Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two apparently distinct neurodegenerative diseases, the former characterized by selective loss of motor neurons in the brain and spinal cord and the latter characterized by ...
Pasinelli, Piera +3 more
core +2 more sources
Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis
Bratislava Medical Journal, 2015 Many centers of assisted reproduction in the Czech Republic offer preimplantation genetic diagnosis with fluorescent in situ hybridization (FISH) to couples requiring preimplantation genetic diagnosis (PGD) of X-linked diseases. However, this process results in discarding all male embryos and is not able to distinguish a carrier or healthy female ...
I, Borgulova +8 more
openaire +3 more sources
Genetic landscape of autism spectrum disorder in Vietnamese children [PDF]
, 2020 Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited.
Bui, HTP +12 more
core +2 more sources
Genomics, 1994 Parallel genetic analysis of animal and human genetic diseases can facilitate the identification and characterization of the causative gene defects.
S. Deschênes +5 more
semanticscholar +1 more source
Health Care Challenges of Hereditary Common Hematological Disorders in Odisha, India [PDF]
, 2012 Medical Genetics over the past few decades have emerged as an important and powerful medical specialty with increasing appreciation of its role and function in the biomedical sciences.
Balgir, RS
core +1 more source
Escape from X Chromosome Inactivation and the Female Predominance in Autoimmune Diseases
International Journal of Molecular Sciences, 2021 Women represent 80% of people affected by autoimmune diseases. Although, many studies have demonstrated a role for sex hormone receptor signaling, particularly estrogens, in the direct regulation of innate and adaptive components of the immune system ...
A. Youness +2 more
semanticscholar +1 more source
Reciprocal control of viral infection and phosphoinositide dynamics
FEBS Letters, EarlyView.Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley +1 more source
Alopecia areata: a multifactorial autoimmune condition [PDF]
, 2019 Alopecia areata is an autoimmune disease that results in non-scarring hair loss, and it is clinically characterised by small patches of baldness on the scalp and/or around the body. It can later progress to total loss of scalp hair (Alopecia totalis) and/
Butcher, John P. +3 more
core +1 more source