research Studies on basal cell carcinoma with emphasis on the role of the human homologue of the Drosophila patched gene
PTCH gene mutations contribute to basal cell carcinoma development.
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research Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria
The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research PSAT1 regulates hair follicle growth and stem cell behavior in cashmere goats
PSAT1 is key for hair growth and stem cell function in cashmere goats.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research 1381 Investigating the role of Mef2c in hair follicle cycling
MEF2C is crucial for normal hair cycle progression.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features
PAS III can cause multiple autoimmune diseases with noticeable skin issues.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Use of cyproterone acetate (CPA) in the treatment of acne, hirsutism and virilism
Cyproterone acetate is effective for acne but less so for hirsutism and alopecia, with some side effects and quick menstrual cycle recovery after treatment.
research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
research Investigation of Glypican-4 and -6 by Infrared Spectral Imaging during the Hair Growth Cycle
Infrared spectral imaging can effectively study protein distribution in hair follicles during hair growth.
research The role of functional variants in the aetiology of polycystic ovary syndrome
A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
research Human Peptidylarginine Deiminase Type III: Molecular Cloning and Nucleotide Sequence of the cDNA, Properties of the Recombinant Enzyme, and Immunohistochemical Localization in Human Skin
PAD3 plays a key role in hair and skin protein structure and may be linked to skin diseases.
research Profibrotic Subsets of SPP1+ Macrophages and POSTN+ Fibroblasts Contribute to Fibrotic Scarring in Acne Keloidalis
Corticosteroids can reduce scarring in acne keloidalis by targeting specific cells.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research 1434 Epithelially derived MPZL3 negatively regulates murine and human sebaceous gland size and sebocyte proliferation
MPZL3 protein helps control the size of oil glands and the growth of oil-producing cells in both mice and humans.
research Dermatitis cruris pustulosa et atrophicans
DCPA is a chronic skin condition affecting the lower limbs, mainly in men, with unclear causes and treatments that often don't work well.
research Abstract 2205: KRTAP 2-3 is a novel potential biomarker of cells in the polyaneuploid cancer cell (PACC) state to predict cancer recurrence
KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Mitogen‐regulated protein/proliferin mRNA induction following single applications of tumor promoters to murine skin
mrp/plf-mRNA can indicate tumor-promoting effects in skin.
research Locations of synthesis of hair structural proteins in human anagen follicles
Hair structural proteins are synthesized sequentially in specific cells, offering a new way to study hair proteins and defects.
research 0750 Proteomics and transcriptomics profiling define molecular subtypes of advanced cutaneous T cell lymphoma and prognostic biomarkers
Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.
research Exploiting molecular genetic diagnoses of polycystic ovary syndrome to achieve better patient outcome
Improved genetic diagnosis of PCOS can lead to better patient outcomes.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research The citrullinating enzyme PADI4 governs progenitor cell proliferation and translation in developing hair follicles
PADI4 enzyme slows down cell growth in developing hair follicles.
research Le point de vue du pathologiste concernant l’étude PCPT
research New-Onset Gastrointestinal Polyposis
A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
research Microsporum gypseum isolated from a feline case of dermatophytosis
A young cat had a rare fungal infection caused by Microsporum gypseum.