research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
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600-630 / 1000+ results research Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata
Dupilumab improved hair and skin in a woman with Netherton syndrome.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Corkscrew Hair: A New Dermoscopic Sign for Diagnosis of Tinea Capitis in Black Children
Corkscrew hair may be a new sign for quickly diagnosing scalp fungus in black children.
research Copy number variation regions in Nellore cattle: Evidences of environment adaptation
Nellore cattle have genetic variations linked to their adaptation to tropical environments.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Three-Dimensional Morphology of Touch Domes in Human Hairy Skin by Correlative Light and Scanning Electron Microscopy
Touch domes in human skin are complex sensory structures not directly linked to hair.
research Association Between ACE I/D Gene Polymorphism and Dyslipidemia in Hypertensive Patients with Ischemic Heart Disease Complication Among Ethiopian Population
Certain genes and high cholesterol levels increase heart disease risk in Ethiopian patients with high blood pressure.
research Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research Pili Trianguli et Canaliculi Is a Defect of Inner Root Sheath Keratinization
The hair defect is due to abnormal inner root sheath keratinization.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research Toxicity of Chlorinated Aromatic Compounds in Animals and Humans: In Vitro Approaches to Toxic Mechanisms and Risk Assessment
Chlorinated compounds like TCDD can cause skin issues and chloracne by affecting cell behavior.
research A doxycycline- and light-inducible Cre recombinase mouse model for optogenetic genome editing
The DiLiCre mouse model is an effective tool for precise genome editing using light.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research Improved trichoscopic assessment of yellow dots using Sub-Ultraviolet Light
research Improved trichoscopic assessment of yellow dots using Sub-Ultraviolet Light
research K6/ODC transgenic mice as a sensitive model for carcinogen identification
K6/ODC transgenic mice are effective for quickly identifying cancer-causing chemicals.
research Decision letter: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Effect of Dieckol, a Component of Ecklonia cava, on the Promotion of Hair Growth
Dieckol from Ecklonia cava may help hair growth and could be a potential hair loss treatment.
research Several variants on chromosome 10 are associated with coarse hair diameter in Dazu black goats (Capra hircus)
Variants on chromosome 10 affect hair thickness in Dazu black goats.
research Cell Membrane-Camouflaged Nanoparticles Mediated Nucleic Acids Delivery
Cell membrane-coated nanoparticles could improve gene therapy by enhancing delivery and targeting of nucleic acids.
research Mammalian-specific ectodermal enhancers control the expression of Hoxc genes in developing nails and hair follicles
HoxC genes are crucial for normal hair and nail development.
research Genetically separable determinants of hair keratin gene expression
Mutations in the Whn gene affect hair keratin gene expression differently.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research DNA dioxygenases Tet2/3 regulate gene promoter accessibility and chromatin topology in lineage-specific loci to control epithelial differentiation
The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
research Docetaxel, cisplatin and 5-fluorouracil in patients with locally advanced unresectable head and neck cancer: a phase I–II feasibility study
The treatment combining docetaxel, cisplatin, and 5-FU is feasible and effective for advanced head and neck cancer.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Association of mtDNA M/N haplogroups with systemic lupus erythematosus: a case-control study of Han Chinese women
The mtDNA N haplogroup is linked to a higher risk of late-onset lupus and specific symptoms in Han Chinese women.