Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study observed similar D2-40 expression in scarring and nonscarring alopecia, with some increase in scarring cases, suggesting possible Fos-dependent mechanisms, though more research is needed for definitive conclusions.

This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.

The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.

This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.

This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.

In this study, researchers found that Hdac1 and Hdac2 are crucial for maintaining the quiescence and survival of dermal papilla cells in the hair follicle, regulating the hair cycle by controlling cell-cycle genes and Wnt signaling.

In this study, the authors identified the DHRS9 SNP rs72623193 as most significantly associated with response to dutasteride in treating male pattern hair loss, with additional variants potentially contributing.

In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.

This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.

This study reports new fluorogenic ceramidase substrates and highlights RBM14C24:1 as an efficient substrate for neutral ceramidase, while RBM15C18:1 is the best probe for measuring ACER1 and ACER2 activities, potentially aiding high-throughput screening for ceramidase inhibitors.

In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.

This review summarizes the proposed model that describes how different shapes of 1alpha,25(OH)2D3 ligands interact with the vitamin D receptor to mediate genomic and rapid responses in cells.

This study found that distinct neurons in the nucleus accumbens lateral shell regulate scratching behavior differently; D1R neurons promote scratching while D2R neurons help stop it, with elevated dopamine levels during chronic itch potentially enhancing persistent scratching.

This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.

This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.

The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.

This study found that the K6/ODC transgenic mouse model is highly sensitive to identifying genotoxic carcinogens, showing 100% concordance with traditional rodent bioassays.

This study suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.

This study found that diphenylcyclopropenone (DPCP) was more effective and better tolerated than dinitrochlorobenzene (DNCB) in promoting hair regrowth in patients with alopecia areata.

This study describes a genetic mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis in Pakistani families, showing similarities to animal models with similar hair loss conditions.

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 identified enzymes responsible for regulating androgen action in the human prostate, suggesting that inhibiting AKR1C2 or RL-HSD may have therapeutic potential in androgen insufficiency or benign prostatic hyperplasia, respectively.

In this animal study, finasteride exposure led to impaired spermatogenesis in rats, while the novel compound DA-9401, derived from three medicinal herbs, demonstrated potential in improving sperm parameters and reducing testicular apoptosis when used alone or with finasteride.

Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.

This study identified ten novel compounds that may effectively target steroid 5 alpha-reductase 2 (5αR-2) for potential treatment of benign prostate hyperplasia, exhibiting comparable binding energies to existing drugs like finasteride and dutasteride.

In this study, researchers found that AGD1 is crucial for membrane recruitment during root hair development in Arabidopsis thaliana, with its pleckstrin homology domain essential for targeting specific plasma membrane regions.

This report describes a rare case of epidermolysis bullosa acquisita in a child developing during therapy with squaric acid dibutyl ester for alopecia areata, suggesting a possible link between the medication and disease onset.

This report describes a woman with borderline lepromatous leprosy who developed a serious skin reaction to dapsone; she recovered quickly after stopping dapsone and receiving corticosteroids.