research An Australian Family With Macular Dystrophy Linked to Autosomal Recessive Alopecia Universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
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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 A Case of Familial Trichomegaly with Synophrys in Association with Loose Anagen Syndrome
A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
research Identification of Familial Infections Using Multilocus Microsatellite Typing in Tinea Corporis Due to Microsporum Canis
A mother and her two daughters got a skin infection from their cat.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Association Between Family History and Male Androgenetic Alopecia with Female Pattern Hair Loss
Men with a family history of hair loss on their mother's side are more likely to have female pattern hair loss.
research Clinical Course of the First Japanese Family with Marie Unna Hereditary Hypotrichosis: A Follow-Up Report
The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
research Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
research Cutaneous Xanthomas in Homozygous Familial Hypercholesterolemia: A 12-Year Follow-Up
Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.
research Gene Detection in a Family With Monilethrix and Observation of the Treatment Effect With 5% Topical Minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Analysis of Familial History in Chinese Patients with Androgenetic Alopecia
research The 5 Alpha-Reductase Isozyme Family: A Review of Basic Biology and Their Role in Human Diseases
The document concludes that the 5 alpha-reductase enzymes are important in steroid metabolism and related to various human diseases, with inhibitors used to treat conditions like male pattern baldness and prostate issues.
research Roles of Jumonji and Jumonji Family Genes in Chromatin Regulation and Development
Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Generalized Vitiligo Associated Autoimmune Diseases in Japanese Patients and Their Families
Japanese vitiligo patients and their families often have other autoimmune diseases.
research The Human Type I Keratin Gene Family: Characterization of New Hair Follicle Specific Members and Evaluation of the Chromosome 17q21.2 Gene Domain
The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
research A Small Multigene Hydroxyproline-O-Galactosyltransferase Family Functions in Arabinogalactan-Protein Glycosylation, Growth, and Development in Arabidopsis
Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.
research Tumor Mapping in Two Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Keratosis Follicularis Spinulosa Decalvans: A Family Study of Seven Male Cases and Six Female Carriers
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research The Gene for Autosomal Dominant Hidrotic Ectodermal Dysplasia (Clouston Syndrome) in a Large Indian Family Maps to the 13q11-q12.1 Pericentromeric Region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research Keratosis Follicularis Spinulosa Decalvans in a Family
KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
research Clinical Features of Familial Lewy Body Parkinsonism Caused by α-Synuclein Triplication (Iowa Kindred) with Video Documentation
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Cloning of the Human Phenol Sulfotransferase Gene Family: Three Genes Implicated in the Metabolism of Catecholamines, Thyroid Hormones, and Drugs
Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability Within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research Expanding Phenotype of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Caused by FAM111B Mutations: Report of an Additional Family Raising the Question of Cancer Predisposition and a Short Review of Early-Onset Poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Analysis of the FGF Gene Family Provides Insights into Aquatic Adaptation in Cetaceans
Whale genes show changes that help them live in water, like less hair and better flippers.
research FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research Characterization of Human Keratin-Associated Protein 1 Family Members
Mutations in hKAP1 genes may cause hereditary hair disorders.
research Deficiency in Nucleotide Excision Repair Family Gene Activity, Especially ERCC3, Is Associated with Non-Pigmented Hair Fiber Growth
Low ERCC3 gene activity is linked to non-pigmented hair growth.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.