research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
Search
for
Sort by
Research
900-930 / 1000+ resultsresearch CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
research Normalization of hair growth in sparse fur-abnormal skin and hair (SPF-ASH) mice by introduction of the rat ornithine transcarbamylase (OTC) gene
Introducing the rat OTC gene normalized hair growth in SPF-ASH mice.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Double-Lined Frontoparietal Scleroderma en coup de sabre
The condition might be caused by genetic changes after birth.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research Tumor suppressor identity can contribute to heterogeneity of phenotype in hair follicle stem cell‐induced squamous cell carcinoma
The type of tumor suppressor affects the form of skin cancer from hair follicle stem cells.
research Prevalence of the Polycystic Ovary Syndrome in Unselected Black and White Women of the Southeastern United States: A Prospective Study1
PCOS affects a similar percentage of Black and White women in the Southeastern United States.
research Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
research A Study on the Pattern of Genetic Inheritance of Polycystic Ovarian Syndrome
PCOS and related metabolic issues often run in families.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research Site of beige (bg) and leaden (ln) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (Wsh) homozygotes
Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
research Homozygous K5Cre transgenic mice have wavy hair and accelerated malignant progression in a murine model of skin carcinogenesis
Homozygous K5Cre transgenic mice have wavy hair and faster cancer progression.
research Perspectives of Kennedy's disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research Signature selection analysis reveals candidate genes associated with production traits in Iranian sheep breeds
Certain genes in Iranian sheep are linked to wool production and heat adaptation.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research The role of the androgen receptor gene CAG repeat polymorphism and X-chromosome inactivation pattern in postmenopausal female pattern hair loss
research 5α Reductase Deficiency—a Rare Cause of Ambiguous Genitalia and Gender Dysphoria
5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
research Poster Abstracts
The model and estimator can predict drug exposure in kidney transplant patients well.
research The targeted overexpression of a Claudin mutant in the epidermis of transgenic mice elicits striking epidermal and hair follicle abnormalities
research Drug–Drug Coamorphous System of Tadalafil and Finasteride for Enhanced Pharmaceutical Performance
Combining tadalafil and finasteride improves their solubility and effectiveness.
research Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
research Association between epidermal growth factor and epidermal growth factor receptor gene polymorphisms and susceptibility to alopecia areata in Korean population
Certain gene variations might increase the risk of a hair loss condition in Koreans.
research A mutation in MAP2 is associated with prenatal hair follicle density
A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
research The Sex-Linked Histocompatibility Antigens
Male-to-female skin grafts in mice are rejected due to sex-linked antigens.
research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
research Exploring the role of CYP19A1 single nucleotide polymorphisms in the pathogenesis of female pattern hair loss
Certain gene changes and hormone levels are linked to female hair loss.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.