Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

Aδ-LTMRs have complex synapses with glycine, while Aβ-LTMRs have simpler ones.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

This research found that the transfer reaction catalyzed by human plasma and guinea pig hair follicle transglutaminases aligns with a ping-pong mechanism involving peptide-bound glutamine.

This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.

A specific mutation in PA-PLA1α causes abnormal hair growth.

This study found that genes in the human keratin-associated protein 1 family may have evolved mainly through gene duplication of cysteine-repeat motifs.

This study reports that patients with Alzheimer's disease have increased levels of polyamines in their hair.

In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.

This study found that more than 14% of idiopathic recurrent early pregnancy loss cases were associated with chromosomal heteromorphisms, predominantly 9qh+, suggesting a genetic component in these unexplained cases.

This article discusses various dermatological studies cited by previous authors and reports no new clinical results.

This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.

This study identified a gene variant in the TRPV3 gene that may explain the suri alpaca phenotype, characterized by longer and less crimped fleece, suggesting this variant's involvement in the development of these hair characteristics compared to the huacaya phenotype.

This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.

In this study, researchers identified the PLD-mGluR protein in primary mechanosensory terminals as the homomeric GluK2 kainate receptor, functioning purely metabotropically, which is suggested to be common to various sensory endings.

In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.

This study identified a germline variant in PLCD1 as a major risk allele for familial trichilemmal cysts, requiring a subsequent somatic mutation in the same allele for cyst formation.

This study found that mutant glucocorticoid receptors have defective transcriptional activity and dynamic motility issues in the nucleus, likely due to impaired interactions with nuclear molecules necessary for gene activation.

In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.

This study found that mouse and human protransglutaminase 3 enzymes require calcium-regulated activation for their role in later stages of cell envelope formation in the epidermis and hair follicle.

In this study, a novel mutation in the glucocorticoid receptor gene was identified in a young woman, impairing glucocorticoid signaling and leading to generalized glucocorticoid resistance.

Mice hair follicles take in the amino acid cystine.

This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.

This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.

A mutation in the KRT25 gene causes woolly hair and hair loss.

In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.

Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.

This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.

This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.