Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

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 suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome.

This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.

This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.

This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.

Doctors need more training in skin cancer screening, a new treatment is effective for a skin condition, better diagnosis methods for skin cancer are available, hair loss in women may be linked to hormones and cholesterol, certain skin care products might cause hair loss, babies' skin gets weaker after birth, and a gene mutation might be linked to eczema.

This study identified a nonsense mutation in the Sgkl gene as the cause of defective hair growth in a mutant mouse strain, implicating the SGKL signaling pathway in hair development.

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.

This study identified WNT10A as crucial for adult epithelial cell proliferation and differentiation, suggesting β-catenin pathway activation may help address regenerative defects in WNT10A mutation patients.

This review summarizes structural insights into androgen receptor dynamics, highlighting its flexibility in binding numerous partners, which may explain adaptive resistance mutations in cancer and loss of function in androgen insensitivity syndrome.

This study identified multiple loss of function variants in the HR gene linked to the unique hair coat phenotype in lykoi cats, also known as werewolf cats.

This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.

Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.

This study found that weakened anchorage of hair shafts, associated with the abnormal expression of 14-3-3σ, may contribute to alopecia in Er/+ mice.

This review discusses the role of cholesterol homeostasis in hair follicle biology and its potential connections to various hair disorders, but it reports no new findings.

This case study reports on a rare form of vitamin D resistant rickets in a 37-year-old male, highlighting the condition's clinical features and the necessity for a thorough understanding of calcium and vitamin D metabolism in the diagnosis and management of metabolic bone diseases.

This review discusses the role of jumonji family proteins in chromatin regulation and development, highlighting their involvement in transcriptional repression and histone demethylation, but reports no new experimental findings.

This review discusses the role of Hedgehog signaling in epidermal and hair follicle development and its involvement in basal cell carcinoma, without reporting new empirical findings.

This study explored the molecular biology of skin adaptations in pangolins, revealing that certain genes for lipid synthesis have inactive patterns, while others related to skin function remain intact, suggesting complex evolutionary changes in their skin physiology.

This study investigated pangolin skin genetics, finding that while sweat gland-related genes are not inactivated, several genes related to sebaceous gland function are, which highlights complex evolutionary adaptations in mammalian skin.

This study found widespread losses of g-type lysozyme genes across various mammalian lineages, with both gene copies extensively lost in cetaceans and sirenians, and linked this to hairlessness in these fully aquatic mammals.

This review examines the role of Hairless, a nuclear receptor corepressor, in regulating Wnt signaling during hair cycling and reports no new clinical results.

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

This article discusses the composition and function of the dermal papilla in hair follicles, focusing on its role in hair shaft generation and suggesting that cell loss in this area may contribute to hair loss.

This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.

In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.

In this study, a young Chinese male with a specific mitochondrial mutation was reported to have proteinuria and renal dysfunction, with stable kidney function after treatment over 23 months.

This study found that overexpression of Gsdma3 in mice led to epidermal hyperplasia, skin inflammation, and hair growth defects, suggesting gain-of-function mutations in Gsdma3 cause these conditions.

This article discusses the structure and function of the skin's epidermis, detailing its role as a protective barrier and nutrient exchange system, without presenting new research findings.

This study found that Arabidopsis thaliana mutants with altered AtRBOHC/RHD2 enzyme function showed abnormal protein regulation linked to increased drought sensitivity due to disrupted plasma membrane protein balance and cytoskeleton changes, as revealed through proteomic analysis and advanced microscopy.