Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.

This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.

In this study, researchers identified a new dominant mutation in Hairless mice, called Pied, resulting from a deletion in the Adam10 gene, which causes freckle-like skin pigmentation by inhibiting melanocyte expansion.

This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.

The authors concluded that alopecia areata incognita, mainly affecting young females, generally has a more favorable prognosis than other types of alopecia areata.

This study found that mutant mice with the we/we wal/wal genotype exhibit significant defects in hair shaft structure and epidermis stratification, correlating with postnatal alopecia symptoms.

This study developed a novel Hairless Rag2/Jak3 KO mouse model, which provides superior optical properties and thinner skin compared to existing models, enhancing its utility for noninvasive tumor monitoring and evaluation of anticancer therapies.

This study reports two siblings with severe combined immunodeficiency due to a mutation in the FOXN1 gene, characterized by T-cell immunodeficiency, alopecia totalis, and nail dystrophy.

This article discusses congenital atrichia and presents no new clinical findings.

This study found that prolonged intermittent fasting in diet-induced obese mice led to increased levels of inositol monophosphates in white adipose tissue, improved insulin sensitivity, and reduced body weight and fat mass, suggesting a novel metabolic adaptation mechanism.

This study identified a missense mutation in the human hairless gene associated with a rare form of recessively inherited alopecia universalis, pinpointed on chromosome 8p12.

This case report describes a rare instance of familial congenital atrichia in a 16-year-old girl, possibly involving a genetic component, as both her parents exhibit similar clinical features.

This study identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.

This case report describes a presumptive case of ichthyosis fetalis in a cross-bred lamb and highlights the need for this rare condition in sheep to be considered by veterinarians in the differential diagnosis of dermatopathies.

This study found that maternal hephaestin knockout in mice leads to neonatal hair loss, likely due to low iron levels in the mother's milk.

This hypothesis paper proposes that men with X-linked recessive ichthyosis may exhibit no androgenetic alopecia or only mild forms, and suggests clinical studies to evaluate this hypothesis.

This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.

This study identified a compound heterozygous mutation in a hairless rhesus macaque, which was associated with skin abnormalities similar to those in hairless mice and humans with APL.

This study observed that the catagen phase in hairless mice displayed a slower shortening of the mutant epithelial column, resulting in longer total follicle length and abnormalities in the connective tissue sheath and glassy membrane.

This research suggests that innate lymphoid cells type 1 (ILC1) may contribute to the development of alopecia areata, alongside CD8+ T cells, by disrupting hair follicle immune privilege and promoting features of the disease.

This study suggests that in alopecia areata, innate lymphoid cells type 1 may contribute to the disease’s pathogenesis by inducing hair follicle changes similarly to CD8+ T cells.

This case report describes an 18-month-old male with ichthyosis follicularis alopecia photophobia syndrome who experienced transient improvement in skin symptoms after oral isotretinoin treatment.

This study reports that Wise is expressed in specific patterns during the morphogenesis of chick embryos, particularly in regions associated with known signaling molecules like Wnt, Bmp, and Shh.

This article reviews the history and characteristics of the rare nude phenotype SCID, primarily distinguished by severe T cell immunodeficiency and notable skin and hair abnormalities, but reports no new clinical findings.

In this study, researchers discovered that the interaction between the hairless protein and the wise protein is crucial for hair-follicle regeneration, helping bald mice regrow fur.

This study concluded that a 3% IGF-1 liposomal gel improved hair thickness and growth in hamsters without inducing significant hepatotoxicity or myelotoxicity, suggesting its potential as a safe hair-loss treatment.

This study suggests that the harlequin ichthyosis mouse model closely resembles human type 2 harlequin ichthyosis, indicating its potential as a useful model for studying the human condition.

In this study, iNKT10 cells were found to play a significant role in preventing and treating alopecia areata in a humanized mouse model, suggesting these cells could have potential in managing related autoimmune disorders.

This case report describes a patient with complete androgen insensitivity syndrome experiencing female pattern hair loss, suggesting that factors beyond direct androgen action may contribute to this condition in women.

In this case study from King Fahad University Hospital, an 11-month-old Saudi boy with a history of short, non-growing hair was diagnosed with autosomal recessive woolly hair/hypotrichosis, attributed to a homozygous mutation in the LIPH gene.