Genetic disorders can be classified according to the way in which they develop. If the disorder is transmitted by genes inherited from only one parent, it is said to be an autosomal dominant disorder. The term autosome applies to any of the 22 chromosomes that are identical in human males an...
Byers, PH (1995) Ehlers-Danlos syndrome type IV: a genetic disorder in many guises. J Invest Dermatol 105: pp. 311-3Ehlers-Danlos syndrome type IV : a genetic disorder in many guises. Byers PH. Journal of Investigative Dermatology . 1995...
The disorder is caused by a homozygous or compound heterozygous mutations in theHSD17B3gene that encodes the 17β-HSD3 isoenzyme leading to an impairment of the conversion of 17-keto into 17-hydroxysteroids. Molecular genetic testing confirms the diagnosis and provides the orientation for genetic ...
A deeper understanding of genetic regulation and functional mechanisms underlying genetic associations with complex traits and diseases is impeded by cellular heterogeneity and linkage disequilibrium. To address these limits, we introduce Huatuo, a frame
What are the signs and symptoms of type 2 diabetes?Your child may have had high blood sugar levels for a long time before symptoms appear. Your child may have no symptoms or any of the following:More hunger or thirst than usual Urinating more often Dark patches of skin under the arms or...
Type 2 diabetes mellitus (DM) is a common metabolic disorder predisposing to diabetic cardiomyopathy and atherosclerotic cardiovascular disease (CVD), which could lead to heart failure through a variety of mechanisms, including myocardial infarction and chronic pressure overload. Pathogenetic mechanisms, ma...
Ehlers-Danlos syndrome (EDS) types I and II, which comprise the classical variety, are well characterized from the clinical perspective, but it has been difficult to identify the molecular basis of the disorder in the majority of affected individuals. Several explanations for this failure to ...
Epigenetic gene regulation in the heterogeneous brain remains challenging to decipher with current strategies. Bulk tissue analysis from pooled subjects reflects the average of cell-type specific changes across cell-types and individuals, which obscures
Molecular analysis of Japanese adult-form galactosialidosis patients revealed a common gene rearrangement: an A-to-G base substitution at the position 3 by downstream of exon 7, resulting in skipping of this exon in mRNA. All five cases in this study were found to be homozygous for this ...
Type 1 diabetes (T1D) patients with low genetic risk scores (GRS) may be non-autoimmune or autoimmune mediated by other genetic loci. The T1D-GRS2 provides us an opportunity to look into the genetic architecture of these patients. A total of 18,949 Europ