research Biotinidase deficiency characterized by skin and hair findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
Search
for
Sort by
Research
330-360 / 1000+ results 
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years 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 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 Characteristics of Men Who Report Persistent Sexual Symptoms After Finasteride Use for Hair Loss
Finasteride for hair loss may cause persistent sexual symptoms, depression, anxiety, and lower quality of life.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Molecular pathology of skin adnexal tumours
New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research Clinical characteristics, trichoscopy, histopathology and treatment outcomes of frontal fibrosing alopecia in an Asian population: A retro‐prospective cohort study
Asian patients with Frontal Fibrosing Alopecia often lose eyebrow hair and respond well to combined antiandrogen or antimalarial and topical treatments.
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 Molecular Genetics of Alopecias
Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
research Love is in the hair: arginine methylation of human hair proteins as novel cardiovascular biomarkers
Human hair protein modifications could potentially indicate heart disease risk.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
research AIMP1-Derived Peptide Secreted from Hair Follicle Stem Cells Promotes Hair Growth by Activating Dermal Papilla Cells
A peptide from hair follicle stem cells can boost hair growth.
research Transcriptome Analysis of Improved Wool Production in Skin-Specific Transgenic Sheep Overexpressing Ovine β-Catenin
Genetically modified sheep with more β-catenin grew more wool without changing the wool's length or thickness.
research Embryologic layers in dermatology: Developmental checkpoint disorders, diagnostic insight, and regenerative futures
Understanding embryologic layers improves skin disorder diagnosis and supports developing targeted therapies.
research Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
research Alpha Smooth Muscle Actin role in Androgenetic Alopecia Pathogenesis:
Reduced alpha smooth muscle actin may cause hair loss in androgenetic alopecia.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Noval advance of histone modification in inflammatory skin diseases and related treatment methods
Histone modification is key in treating chronic inflammatory skin diseases.
research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research A Case of Azathioprine Induced Severe Myelosuppression and Alopecia Totalis in IgA Nephropathy
Azathioprine can cause severe blood issues and hair loss, needing careful monitoring and possible discontinuation.
research Hair cell loss – cause or consequence of hearing loss?
Hair cell loss usually happens after hearing loss starts.
research Adrenal Cortex Tumors and Hyperplasias
Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.
research Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research The human keratins: biology and pathology
Keratins are crucial for cell stability, wound healing, and cancer diagnosis.
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 Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease
Histone demethylases can change gene expression and may be linked to diseases like cancer.
research Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria
The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
research Eph Receptors and Ephrins: Therapeutic Opportunities
Eph receptors and ephrins may be promising targets for treating diseases, but more understanding is needed for effective and safe therapies.
research Types I and II Keratin Intermediate Filaments
Keratins are crucial for cell structure, growth, and disease risk.