research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
Search
for
Sort by
Research
750-780 / 1000+ results research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
A mutation in the KRTHB5 gene causes hair and nail issues.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
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 Localization of Epidermal Growth Factor Immunoreactivity in Sheep Skin During Wool Follicle Development
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research A Simple In Vivo System for Studying Epithelialization, Hair Follicle Formation, and Invasion Using Primary Epidermal Cells from Wild-Type and Transgenic Ornithine Decarboxylase-Overexpressing Mouse Skin
Overexpressing ornithine decarboxylase and v-Ha-ras in keratinocytes leads to invasiveness and malignancy.
research Malignant epithelial tumors: Part II. Therapy and prevention
The document concludes that individualized treatment for malignant epithelial tumors is necessary and more research on metastatic squamous cell carcinoma treatments is needed.
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Ligand‐independent epidermal growth factor receptor hyperactivation increases sebaceous gland size and sebum secretion in mice
EGFR hyperactivation increases sebaceous gland size and sebum production in mice.
research AN UNDESCRIBED DEMODEX SP. AND DEMODICOSIS IN A CAPTIVE KOALA (PHASCOLARCTOS CINEREUS)
A new type of mite caused hair loss in a koala, which was treated successfully with ivermectin.
research Punctate Follicular Porokeratosis
Punctate follicular porokeratosis is a skin condition with specific features seen in hair follicles.
research Trichilemmoma.Features of keratin expression in CS-5 trichocyst system tumors.
Immunohistochemistry helps accurately identify and differentiate malignant trichilemmoma.
research Alterations in Corneal Sensitivity, Staining and Biomechanics of Alopecia Areata Patients: Novel Findings in a Case-Control Study
Alopecia areata patients have eye issues and need regular eye exams.
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 Cytoplasmic Ca2+ concentrations in intact Merkel cells of an isolated, functioning rat sinus hair preparation
research Multiple iridociliary cysts in patients with mucopolysaccharidoses
Intralesional cidofovir may be a viable alternative treatment for SCC.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Miz1 is required for hair follicle structure and hair morphogenesis
Miz1 is essential for proper hair structure and growth.
research Monilethrix – Case report of a rare disease
Monilethrix causes fragile, patchy hair loss.
research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Disturbed Keratinocyte Differentiation in Transgenic Mice and Organotypic Keratinocyte Cultures as a Result of Spermidine/Spermine N1-Acetyltransferase Overexpression
Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
research Horn With Miliary Calcification in Squamous Cell Carcinoma
A unique case of skin cancer showed unusual calcification, possibly linked to calcium-binding proteins.
research Label-Free Monitoring of Endometrial Cancer Progression Using Multiphoton Microscopy
Multiphoton microscopy can effectively detect early endometrial cancer by analyzing collagen changes.
research Role of epidermal stem cells in repair of partial-thickness burn injury after using Moist Exposed Burn Ointment (MEBO®) histological and immunohistochemical study
MEBO ointment helps activate and grow skin stem cells for burn healing.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Trichothiodystrophy: an ultrastructural study of the hair follicle
Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.