research Molecular basis of androgen insensitivity
Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
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180-210 / 1000+ resultsresearch In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Membrane androgen receptors may mediate androgen reinforcement
Androgen self-administration might be controlled by membrane receptors, not nuclear ones.
research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
research Krtap16, Characterization of a New Hair Keratin-associated Protein (KAP) Gene Complex on Mouse Chromosome 16 and Evidence for Regulation by Hoxc13
Hoxc13 regulates specific hair protein genes on mouse chromosome 16.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
research Biotin and biotinidase deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research Montagna Symposium 2014—Skin Aging: Molecular Mechanisms and Tissue Consequences
The symposium concluded that understanding the molecular mechanisms of skin aging could lead to better clinical practices and treatments.
research Phenotyping mice with skin, hair, or nail abnormalities: A systematic approach and methodologies from simple to complex
Understanding genetic variations in mice is crucial for studying skin, hair, or nail abnormalities.
research De novo filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks
Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Author response: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
research Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation
Desmoglein 4 is controlled by specific proteins that affect hair growth.
research Hoxc13 mutant mice lack external hair
Hoxc13 gene is essential for hair, nail, and papilla development.
research Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.
research Defining the impact of β-catenin/Tcf transactivation on epithelial stem cells
β-catenin is essential for stem cell activation and proliferation in hair follicles.
research The transcriptional repressor CDP (Cutl1) is essential for epithelial cell differentiation of the lung and the hair follicle
CDP is crucial for lung and hair follicle cell development.
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research The Critical Roles of Serum/Glucocorticoid-Regulated Kinase 3 (SGK3) in the Hair Follicle Morphogenesis and Homeostasis
SGK3 is essential for proper hair growth and health.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research Genotoxicity of Rice Bran Oil Extracted by Supercritical CO<sub>2</sub> Extraction
Rice bran oil extracted by supercritical CO2 is considered non-genotoxic.
research Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
ARWH is a rare hair disorder with no cure, but potential treatments include minoxidil and other therapies.
research KIF18B is a cell-type specific regulator of spindle orientation in the epidermis
KIF18B is important for correctly positioning cell division machinery in skin cells, affecting hair follicle development.
research Tracing the cellular origin of cancer
Understanding where cancer cells come from helps create better prevention and treatment methods.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research A Clinical Approach to Severe Insulin Resistance
Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research Biology and Genetics of Hair
The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.