research The Hairless Gene in Androgenetic Alopecia: Results of a Systematic Mutation Screening and a Family-Based Association Approach
Hairless gene not strongly linked to baldness.
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research Genetic Ablation of Myelin Protein Zero-Like 3 in Mice Increases Energy Expenditure, Improves Glycemic Control, and Reduces Hepatic Lipid Synthesis
Removing myelin protein zero-like 3 in mice leads to better metabolism and resistance to obesity.
research No Improvement in Male-Pattern Hair Loss Using Laser Hair-Comb Therapy: A 6-Month, Half-Head, Assessor-Blinded Investigation in Two Men
Laser hair-comb therapy doesn't improve male-pattern hair loss.
research Biotinidase Deficiency Characterized by Skin and Hair Findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research No Evidence for THAP1/DYT6 Variants as Disease Modifiers in DYT1 Dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research White Piedra Caused by Trichosporon Inkin: A Report of Two Cases in a Northern Climate
White piedra, a rare fungal infection, was diagnosed in two women in a northern climate.
research Alopecia: Association with Resistance to Thyroid Hormones
A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
research Skin and Hair Abnormalities of Cantu Syndrome: A Congenital Hypertrichosis Due to a Genetic Alteration Mimicking the Pharmacological Effect of Minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research Topical Minoxidil Improves Congenital Hypotrichosis Caused by LIPH Mutations
Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
research Mutation in 5′ Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Repigmentation of Leukoderma in a Piebald Patient Associated with a Novel c-KIT Gene Mutation, G592E, of the Tyrosine Kinase Domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research Ability to Cycle Despite Severe Freezing of Gait in Atypical Parkinsonism in Fahr's Syndrome
Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
research Encephalitis Lethargica Due to Epstein–Barr Virus Infection
Finasteride may help reduce tic severity in male Tourette syndrome patients.
research Frontotemporal Dementia with Parkinsonism Presenting as Posterior Cortical Atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Advances in Genetic and Molecular Understanding of Omenn Syndrome: Implications for the Future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Clinical and Laboratory Characteristics of Individuals Aged 17 Years or Younger With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Prediction of Gain-of-Function and Loss-of-Function Mutations Using Combined Annotation Dependent Depletion
C-scores can help predict gain-of-function and loss-of-function mutations.
research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Anti-Ku Antibodies: Much More Than Scleromyositis
Patients with Systemic Sclerosis have much higher levels of GDF-15, which could help predict organ involvement and guide treatment.
research Giant Bilateral Myelolipomas in a Patient with Congenital Adrenal Hyperplasia
A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
research KATP Channels in Zebrafish Cardiovascular System: A Model to Study Cantú Syndrome
Zebrafish with mutations similar to human Cantú Syndrome have heart cells with altered channel properties, making them a good model to study the condition.
research The Role of Astrotactin2 in Regulating Mammalian Skin Polarity
Astrotactin2 affects hair follicle orientation and skin cell polarity.
research Comparison of Comedolytic Effect of Benzoyl Peroxide and Adapalene in Rhino Mice
Benzoyl peroxide and adapalene gels work differently to reduce acne in mice.
research Atrichia With Papular Lesions – A Case Report
No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
research Molecular Principles of Hair Follicle Induction and Morphogenesis
Hair follicle development is controlled by interactions between skin tissues and specific molecular signals.
research Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition
The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.
research Severe Cutaneous Adverse Reactions to Drugs
Some drugs can cause rare but potentially deadly skin reactions, and early treatment and avoiding the drug again are key.