Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study successfully constructed a skin cDNA library from the Liaoning cashmere goat during follicle anagen and identified two genes with significant expression in heart, skin, and hair follicles.

This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.

In this study, researchers identified specific Se6OMT enzymes in *S. epigaea* involved in the cepharanthine biosynthetic pathway, providing insights into their substrate promiscuity and essential genetic components for metabolic engineering and synthetic biology applications of cepharanthine production.

This report identified longitudinal grooves in the hair shafts of four children, diagnosing them with uncombable-hair syndrome.

This study documents dominant transmission and complete penetrance of uncombable hair syndrome in a family, despite the father lacking visible abnormalities.

This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.

This case report described two siblings with uncombable hair syndrome characterized by unique hair features, and identified a new pathogenic variant in the PADI3 gene (c.1374dup; p. Val459ArgfsTer15) not previously documented.

This report describes a patient with symptoms suggestive of both loose anagen hair syndrome and uncombable hair syndrome, adding to previous instances of overlapping features between these conditions.

A 4-year-old girl had a rare hair disorder affecting only part of her scalp.

Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.

This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.

In this study, researchers identified two de novo germline missense mutations in the hair keratins hHb1 and hHb6 in patients with monilethrix whose parents were not clinically affected.

Researchers found a gene mutation responsible for a rare hair loss condition.

In this study, researchers introduced a visible-light-mediated intramolecular cycloaddition method that selectively forms 6-azabicyclo[3.1.1]heptanes, suggesting these structures could offer promising new scaffolds for drug discovery and medicinal chemistry.

This study identified two key pentapeptide quasi-repeats in human keratin-associated proteins, which are similar to motifs found in sheep wool.

This study identified UBC22 as a novel E2 enzyme responsible for Lys11-linked ubiquitination in Arabidopsis, revealing its crucial roles in seed setting, female gametophyte development, and pathogen resistance.

Defective protein folding due to a mutation is key in ANE syndrome.

Type I and Type II keratin chains can form heterodimers despite sequence differences.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This article reports the first documented cases of Marie-Unna hereditary hypotrichosis in Egypt, highlighting the variability of genetic mutations in this rare form of congenital hair loss.

This case report describes a novel association between uncombable hair syndrome and Zellweger syndrome due to a homozygous mutation in the PEX12 gene.

This study introduces a novel visible light-mediated intramolecular [2+2] cycloaddition process that forms 6-azabicyclo[3.1.1]heptanes, offering a new synthesis route for bioisosteric mimetics used in drug discovery, potentially expanding medicinal chemistry applications beyond traditional limitations.

In this study, nitrogen starvation in Chlorella sp. FC2 IITG led to increased lipid accumulation by altering the expression of enzymes involved in various metabolic pathways, suggesting potential for genetic engineering of microalgae.

This study reported that novel kainate derivatives, especially ZCZ90, maintained potency in affecting proprioceptive sensory organ firing, aiding future receptor studies for potential treatment innovations.

This study suggests that incorporating matrisomal components into biomaterials could enhance skin wound healing in mammals that do not naturally regenerate tissues like the axolotl and Acomys.

This case report describes a girl with uncombable hair syndrome who showed significant improvement in hair combability and growth rate after two cycles of oral biotin supplementation.