research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
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570-600 / 1000+ results research 322 Upregulation of SERPINB3/B4 and S100A7-9 in hidradenitis suppurativa/acne inversa
Certain proteins are significantly increased in the skin of people with hidradenitis suppurativa.
research Expression of Keratin 75 (K6hf) in Oral Squamous Cell Carcinoma
Keratin 75 might be important in oral cancer progression.
research 5-Alpha-reductase deficiency in a Saudi "girl"
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research The Hairless Phenotype of the Hirosaki Hairless Rat Is Due to the Deletion of an 80-kb Genomic DNA Containing Five Basic Keratin Genes
Hirosaki hairless rats lack hair due to missing DNA with key keratin genes.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research Hair Growth Promoting Effect of Hottuynia cordata Extract in Cultured Human Hair Follicle Dermal Papilla Cells
Houttuynia cordata extract may help hair grow by improving cell survival and increasing cell growth.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research Targeted Expression of Human Vitamin D Receptor in the Skin Promotes the Initiation of the Postnatal Hair Follicle Cycle and Rescues the Alopecia in Vitamin D Receptor Null Mice
Vitamin D receptor is crucial for starting hair growth after birth.
research Solubilizing steroidal drugs by β-cyclodextrin derivatives
Using β-cyclodextrin derivatives improves the solubility and bioavailability of steroidal drugs.
research KRT72 wt Allele
KRT72 gene helps form hair.
research Association of HSPA1B SNP rs6457452 with Alopecia Areata in the Korean Population
The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research (The)Hair growth promoting effect of HEM-13HDC (a mixture of 8 herbal extracts) and its molecular regulation
HEM-13HDC, a mix of 8 herbal extracts, helps hair grow and affects hair growth at a molecular level.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Female Pattern Hair Loss in a Patient with 17?-hydroxylase Deficiency
Low androgen levels can still cause female pattern hair loss.
research 0955 Selective BET inhibition as potential hidradenitis suppurativa treatment
research Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency
Dihydrotestosterone treatment can help penis growth in boys with 5α-reductase deficiency but doesn't fully normalize size after puberty.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research In silico structural prediction of human steroid 5α-reductase type II
Scientists found out the structure of a human enzyme linked to prostate cancer and hair loss, which could help in designing drugs.
research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
research HOXC13 Is Involved in the Regulation of Human Hair Keratin Gene Expression
HOXC13 is crucial for regulating hair keratin genes in hair follicles.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector
MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
research 605 3D-SeboSkin model application in Hidradenitis suppurativa/acne inversa
The 3D-SeboSkin model effectively simulates Hidradenitis suppurativa and is useful for future research.
research Hidradenitis Suppurativa and Comorbid Disorder Biomarkers, Druggable Genes, New Drugs and Drug Repurposing—A Molecular Meta-Analysis
The study found key factors in the cause of hidradenitis suppurativa, its link to other diseases, and identified existing drugs that could potentially treat it.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Disrupted Ectodermal Organ Morphogenesis in Mice with a Conditional Histone Deacetylase 1, 2 Deletion in the Epidermis
Mice without certain skin proteins had abnormal skin and hair development.