research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
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research The genetics of androgenetic alopecia
Genes and hormones cause hair loss, with four genes contributing equally.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research What does acne genetics teach us about disease pathogenesis?
Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Thyroid diseases and skin autoimmunity
Thyroid diseases may contribute to autoimmune skin diseases, and more research is needed on their relationship.
research Establishment of keratinocyte cell lines from human hair follicles
Scientists created keratinocyte cell lines from human hair that can differentiate similarly to normal skin cells, offering a new way to study skin biology and diseases.
research Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth
Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
research Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
research Formation of the cornified envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Low level of maternal biotin intake changes the expression of biotin transporter in dams and fetuses in mice
Low biotin intake during pregnancy can affect biotin transport in mothers and fetuses.
research Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: a Case Report
A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Secondary Cicatricial and other Permanent Alopecias
The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
research Australian Hair and Wool Research Society Cutaneous Biology and Endocrinology Workshop
The workshop highlighted the genetic links and psychological impacts of hair loss and skin disorders.
research Sex-Chromosome-Related Dimorphism in Steroidogenic Enzymes and Androgen Receptor in Response to Testosterone Treatment: An In Vitro Study on Human Primary Skeletal Muscle Cells
Chromosomal differences affect how muscle cells respond to testosterone.
research Skin Disorders in Transgender Patients
Transgender patients face unique skin issues due to hormone treatments and surgeries.
research Molecular Dissection of Mesenchymal–Epithelial Interactions in the Hair Follicle
Understanding gene expression in hair follicles can reveal insights into hair growth and disorders.
research Epidemiology and burden of alopecia areata: a systematic review
Alopecia areata is a common autoimmune disease affecting about 2% of people, causing significant disability and often associated with mental health issues and other autoimmune conditions.
research Obesity and the skin
Obesity is linked to various skin problems and may increase the risk of skin cancer.
research Clinical Findings, Cutaneous Pathology, and Response to Therapy in 21 Patients With Keratosis Pilaris Atrophicans
The study found that Keratosis Pilaris Atrophicans is a genetic skin condition that starts in childhood, involves inflammation and scarring, and current treatments are only somewhat effective.
research Androgenetic alopecia in men and women
Androgenetic alopecia involves genetics, hormones, and can be treated with medications or surgery.
research Acne and Systemic Disease
Hormones, especially androgens, play a key role in acne, which can be a symptom of systemic diseases like PCOS and may require targeted treatment.
research Acne as a chronic systemic disease
Acne is a chronic disease linked to various systemic conditions and has significant psychological and social effects.
research Beyond Expectations
Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.