Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study suggests that structural changes in the TRPV3 channel are linked to severe skin conditions like Olmsted syndrome, with differences observed between heat-activated and resting states.

This study found that inhibiting the TRPV3 channel may significantly promote hair growth and suggests a potential therapeutic approach for hair loss and related skin diseases.

This review discusses current knowledge about the TRPV3 ion channel's role in skin functions and diseases, highlighting its potential as a therapeutic target for pain and itch, though suitable ligands are limited.

This review examined the role of the ion channel TRPV3 in warmth sensation and skin physiology, discussing controversies around its direct contribution to temperature perception, its involvement in skin health, and its potential as a therapeutic target for skin diseases.

This study reports the development of a novel protocol to purify human TRPV3 ion channels, revealing functional properties and differences in ligand interactions, enabling further structural and functional research.

This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.

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

This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.

This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.

This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.

This study identified that in Japanese patients with autosomal recessive woolly hair/hypotrichosis, the c.736T > A LIPH mutation is associated with a mild phenotype, while the c.742C > A mutation may lead to severe baldness.

This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.

In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.

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 case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.

A specific gene mutation causes woolly hair and hair loss.

This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.

This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.

This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

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.

This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.

This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.

This case report identifies two specific mutations in the WRN gene in a 40-year-old female with Werner syndrome, highlighting the need for awareness of its early manifestations and treatment options.

This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.

This case report describes an adult male from India with Werner's syndrome due to a novel homozygous mutation in the WRN gene, characterized by several premature aging symptoms.

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

This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.