research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
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research 1405 Cellular and molecular characterization of sebaceous gland self-renewal and regeneration following complete genetic ablation
The research found that a protein called PPARg is important for the formation and healing of sebaceous glands, which can regenerate independently from hair follicles.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research High migratory activity of dermal sheath cup cells associated with the clinical efficacy of autologous cell-based therapy for pattern hair loss
Cells that move well may improve hair loss treatments by entering hair follicles.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research Desmogleins: Hair perspective
Desmogleins are crucial for hair structure and growth.
research Estrogenic Potential of 2-Alkyl-4-(thio)chromenone 6-O-Sulfamates: Potent Inhibitors of Human Steroid Sulfatase
A substance called Compound 2g can strongly block STS (a hormone-related enzyme) without affecting estrogen levels, making it potentially good for treating breast cancer.
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 Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research 724 MPZL3 functions as a negative regulator of sebaceous gland size and sebocyte proliferation
MPZL3 protein helps keep sebaceous gland size and cell growth in check.
research Role of the soluble epoxide hydrolase in the hair follicle stem cell homeostasis and hair growth
The enzyme sEH is important for hair growth and its inhibition could help treat hair loss.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research MmuPV1-Induced Cutaneous Squamous Cell Carcinoma Arises Preferentially from Lgr5+ Epithelial Progenitor Cells
Skin cancer often starts from Lgr5+ progenitor cells.
research Steatocystoma
research 0977 Pathogenic hallmarks of primary lymphocyte-mediated scarring alopecia revealed by single nuclear and spatial multiomics
Scarring alopecia involves increased immune cells and specific gene changes near damaged hair follicles.
research Identification and Characterization of Two Se6OMTs from Stephania epigaea Offer Novel Insights into the Biosynthetic Pathway of Cepharanthine
The research found enzymes in Stephania epigaea that help make cepharanthine.
research Triple-Negative Sjogren’s Syndrome and Recurrent Pneumothorax: An Uncommon Presentation of Autoimmune Disease
Recurrent pneumothorax can occur in Sjogren's syndrome, even without common markers.
research 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
research Arabidopsis retromer subunit AtVPS29 is involved in SLY1-mediated gibberellin signaling
AtVPS29 is essential for proper plant growth by regulating gibberellin signaling.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research Mesenchymal stem cells and their secretome - candidates for safe and effective therapy for systemic lupus erythematosus
Mesenchymal stem cells and their secretome may offer a safe and effective treatment for systemic lupus erythematosus.
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 Gsdma3 Mutation Causes Bulge Stem Cell Depletion and Alopecia Mediated by Skin Inflammation
A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
research Diagnosis Of Satoyoshi Syndrome Using A Neuroblastoma Cell (SH-SY5Y) Lysate As Substrate For Western Blot
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
research N1-acetylspermidine is a determinant of hair follicle stem cell fate
N1-acetylspermidine promotes hair follicle stem cell self-renewal.