research Biotinidase Deficiency Characterized by Skin and Hair Findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
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510-540 / 1000+ results research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research From Structural Resilience to Cell Specification: Intermediate Filaments as Regulators of Cell Fate
Intermediate filaments are crucial for cell differentiation and stem cell function.
research Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Genetic Dissection of Retinoic Acid Function in Epidermis Physiology
Retinoic acid affects skin and hair health by working with specific receptors, and its absence can lead to hair loss and skin changes.
research Cleave But Not Leave: Astrotactin Proteins in Development and Disease
Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
research Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
research A Novel Mutation in the FERMT1 Gene in a Spanish Family with Kindler’s Syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
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 Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research The Role of Aquaporins in Polycystic Ovary Syndrome: A Way Towards a Novel Drug Target in PCOS
Aquaporins could be new drug targets for treating polycystic ovary syndrome.
research Ichthyosis Hystrix: A Rare Case in a Three-Day-Old Male Infant
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research A New Locus for Hereditary Hypotrichosis Simplex Maps to Chromosome 13q12.12-12.3 in a Chinese Family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
research Therapeutic Control of Androgen Action
Understanding how androgens work is key for creating new treatments for prostate issues and hair/skin conditions.
research Severe Metabolic Disorders Coexisting With Werner Syndrome: A Case Report
A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
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 Ectrodactyly, Soft-Tissue Syndactyly, and Nodulocystic Acne: Coincidence or Association?
The case suggests a possible link between severe acne and certain bone deformities.
research Mitochondrial DNA 10158T>C Mutation in a Patient with Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Case Report of Schöpf–Schulz–Passarge Syndrome Resulting from a Missense Mutation, p.Arg104Cys, in WNT10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Commentary on: Hairless and the Polyamine Putrescine Form a Negative Regulatory Loop in the Epidermis
The commentary explains that a balance of HR protein and putrescine is important for normal hair growth.
research OsUEV1B, a Ubc Enzyme Variant Protein, Is Required for Phosphate Homeostasis in Rice
OsUEV1B protein is essential for controlling phosphate levels in rice.
research Structure of Human Steroid 5α-Reductase 2 with Anti-Androgen Drug Finasteride
The research helps understand how finasteride works and aids drug development.
research Porokeratotic Eccrine Ostial And Dermal Duct Nevus And Porokeratotic Eccrine And Hair Follicle Nevus: Is Nomenclature 'Porokeratotic Adnexal Ostial Nevus' More Appropriate?
The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
research Monilethrix: A Rare Inherited Hair Shaft Disorder in Siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research Monilethrix
Monilethrix has no effective treatment, but avoiding hair trauma helps manage it.
research Recent Advances in Exosomal Non-Coding RNA-Based Therapeutic Approaches for Photoaging
New treatments for skin damage from UV light using stem cells and their secretions show promise for skin repair without major risks.
research Hair Follicle Dystrophy in a Litter of Domestic Cats Resembling Lanceolate Hair Mutant Mice
A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
research Erythromelanosis Follicularis Faciei Et Colli With Reticulated Hyperpigmentation Of The Extremities
A rare skin condition causes red and dark patches on the face and limbs.