research Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne
Genetic variations affecting skin structure play a key role in severe acne.
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research Identification of the Ovine Keratin-Associated Protein 22-1 (KAP22-1) Gene and Its Effect on Wool Traits
The gene KAP22-1 affects wool yield and fiber shape in sheep.
research Fine mapping of the human AR/EDA2R locus in androgenetic alopecia
Genetic marker rs12558842 strongly linked to male hair loss.
research A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research Multicentric calcified trichilemmal cysts with alopecia universalis affecting siblings
Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study
The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
research Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Sequence Variation in Caprine KRTAP6-2 Affects Cashmere Fiber Diameter
Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.
research NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA
Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
research A Comprehensive Review of GWASs of Human Hair Traits
Genetic studies on hair traits can improve understanding of health and disease.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research Frontal Fibrosing Alopecia – a review and a practical guide for clinicians
The article concludes that understanding Frontal Fibrosing Alopecia (FFA) is crucial for effective treatment, which includes medication like 5α-reductase inhibitors and hydroxychloroquine.
research Investigation of four novel male androgenetic alopecia susceptibility loci: no association with female pattern hair loss
No link found between new male baldness genes and female hair loss.
research Hair follicle group and skin follicle population of Australian Merino sheep
Certain hair follicle traits in Merino sheep may be inherited.
research Immune-Molecular Link between Thyroid and Skin Autoimmune Diseases: A Narrative Review
Thyroid and skin autoimmune diseases share genetic and immune links, affecting both tissues.
research ALOPECIA AREATA-A CLINICAL ANALYSIS
Alopecia areata causes patchy hair loss due to unknown factors, affecting all ages and genders.
research Nonalcoholic fatty liver disease and polycystic ovary syndrome
People with PCOS, especially if obese, often have NAFLD, linked to obesity, insulin resistance, and high androgen levels.
research Molecular cloning, characterization, and expression of sheep FGF5 gene
Researchers identified a new variant of the FGF5 gene in sheep that affects hair length.
research Acquired progressive kinking of the hair in a prepubertal boy
A 10-year-old boy had the earliest reported case of hair that became progressively kinkier but eventually returned to normal on its own.
research Spectrum of Phenotypes Associated with Human MC1R Variations
MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.
research Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults
The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.
research Variation in the ovine keratin-associated protein 15-1 gene affects wool yield
Genetic variation in the KRTAP15-1 gene affects wool yield in sheep.
research Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review
Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
research Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.