research A PAX1 Enhancer Locus Is Associated With Susceptibility to Idiopathic Scoliosis in Females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
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research Identification of Drug-Specific Public TCR Driving Severe Cutaneous Adverse Reactions
Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.
research Structure of Human Type II 5 Alpha-Reductase Gene
The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Characterization of a Partial cDNA for Lysyl Hydroxylase from Human Skin Fibroblasts; Lysyl Hydroxylase mRNAs Are Regulated Differently by Minoxidil Derivatives and Hydralazine
Minoxidil decreases LH expression, while hydralazine has mixed effects on prolyl and lysyl hydroxylase activities.
research De Novo Production of Dermal Papilla Cells During the Anagen Phase of the Hair Cycle
New cells are added to the hair's dermal papilla during the active growth phase.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research FOXN1 Deficient Nude Severe Combined Immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research BAF200 Is Required for Heart Morphogenesis and Coronary Artery Development
BAF200 is essential for proper heart and coronary artery formation.
research Elucidating the Roles of Three β-Glucuronosyltransferases Acting on Arabinogalactan-Proteins Using a CRISPR-Cas9 Multiplexing Approach in Arabidopsis
The study concluded that three enzymes are important for plant development by affecting sugar composition and calcium binding in plants.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–Like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
research Mutations in Sterol O-Acyltransferase 1 (SOAT1) Result in Hair Interior Defects in AKR/J Mice
A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research The Disrupted Balance Between Hair Follicles and Sebaceous Glands in Hoxc13-Ablated Rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
research Signal Transducer and Activator of Transcription 5B Deficiency Due to a Novel Missense Mutation in the Coiled-Coil Domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Comprehensive Clinical Management of Hirsutism
New treatments for excessive hair growth in women include insulin modulators and enzyme inhibitors.
research Controversies in Plastic Surgery: Suction-Assisted Lipectomy and the hCG Protocol for Obesity Treatment
The document concludes that the hCG protocol may help in obesity treatment and could be scientifically justified, but more research is needed.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research Disruption of Anthrax Toxin Receptor 1 in Pigs Leads to a Rare Disease Phenotype and Protection from Senecavirus A Infection
Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
research Skin and Hair Abnormalities of Cantu Syndrome: A Congenital Hypertrichosis Due to a Genetic Alteration Mimicking the Pharmacological Effect of Minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Outcomes of Tissue Expander Application for Scalp Reconstruction in Extensive Aplasia Cutis Congenita
Using tissue expanders for scalp reconstruction in patients with extensive Aplasia Cutis Congenita is effective and has minimal complications.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Spontaneous Fertility in a Male Patient with Testotoxicosis Despite Suppression of FSH Levels
A man with testotoxicosis was fertile despite low FSH levels, suggesting high testosterone may allow sperm production without FSH.
research Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
research A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research FLCN Regulates Transferrin Receptor 1 Transport and Iron Homeostasis
FLCN helps control iron levels in cells.
research Stem Cells and Their Niches
The document concludes that stem cells and their environments are crucial for skin and hair health and have potential for medical treatments.
research Otitis Externa Associated With Demodex Cati - Case Report
A cat with ear infection and skin issues was successfully treated for Demodex mites using imidacloprid and moxidectin.