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research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Androgenetic alopecia and polymorphism of the androgen receptor gene (SNP rs6152) in patients with benign prostate hyperplasia or prostate cancer
Hair loss gene linked to prostate issues.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Possible involvement of partial biotinidase deficiency in alopecia areata
Biotin supplements may help hair regrowth in alopecia areata patients with low biotinidase activity.
research Epidermal Differentiation Enhances CRABP II Expression in Human Skin
research Alopecia in vitamin D-dependent rickets type II responding to 1α-hydroxycholecalciferol
A boy's hair loss and bone issues improved with specific vitamin D treatment and calcium.
research Citrullination at the Inflammatory Skin Barrier
A potential treatment for atopic dermatitis could be to increase PADI1 expression to improve skin barrier function.
research Comment: GENETIC ANALYSIS OF 5 α REDUCTASE TYPE II ENZYME IN RELATION TO OXIDATIVE STRESS IN CASES OF ANDROGENETIC ALOPECIA IN A SAMPLE OF EGYPTIAN POPULATION
research Proline-rich protein-like PRPL1 controls elongation of root hairs in Arabidopsis thaliana
A gene in Arabidopsis thaliana, AtPRPL1, affects root hair length but not cell wall composition.
research Intermolecular NH 2 -/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
research Decision letter: Structural basis of malodour precursor transport in the human axilla
The study identified a key protein involved in producing underarm odor and found ways to inhibit it.
research 164 Epigenetic and transcriptional profiling of PBMCs in mild and severe alopecia areata using single-cell RNA-Seq and ATAC-Seq
The study identified key immune cell differences between mild and severe alopecia areata.
research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region
A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
research BindingDB Entry 50021519: Discovery of (2S)-N-(6-Cyano-5-(trifluoromethyl)pyridin-3-yl)-3-(6-(4-cyanophenyl)-3,6-diazabicyclo[3.1.1]heptan-3-yl)-2-hydroxy-2-methylpropanamide as a Highly Potent and Selective Topical Androgen Receptor Antagonist for Androgenetic Alopecia Treatment.
research Correction to “the Role of Hsa‐miR‐193a‐5p as an Important Factor for Control of Inositol in Alopecia Areata”
Hsa-miR-193a-5p is important in alopecia areata by promoting inflammation and involving specific genes in hair and immune function.
research Androgen receptor gene polymorphisms and risk for androgenetic alopecia: a meta-analysis
G allele of AR Stul polymorphism linked to higher hair loss risk, especially in white people.
research Dermal Papilla Cells from Human Hair Follicles Express mRNA for Retinoic Acid Receptors in Culture
research Adipose transcriptome in the scalp of androgenetic alopecia
The scalp fat tissue of men with hair loss shows changes in gene activity that may contribute to their condition.
research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17
AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
research A Receptor-Like Kinase Mediates Ammonium Homeostasis and Is Important for the Polar Growth of Root Hairs inArabidopsis
The CAP1 gene helps control ammonium levels and is necessary for the proper growth of root hairs in Arabidopsis.
research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
A specific gene mutation causes woolly hair and hair loss.
research A role for steroid 5 alpha-reductase 1 in vascular remodeling during endometrial decidualization
The enzyme 5α-reductase type 1 is important for blood vessel development and fertility in the uterus.
research A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.