research A PAX1 Enhancer Locus Is Associated With Susceptibility to Idiopathic Scoliosis in Females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
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research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research The Natural History of Androgenetic Alopecia
AGA affects many, progresses differently, and early treatment is crucial.
research The Pediatric Origins of Polycystic Ovary Syndrome
Early signs of PCOS in girls, like irregular periods and polycystic ovaries, suggest a need for early diagnosis and intervention to prevent further health issues.
research The Feasibility and Utility of Hair Follicle Sampling to Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome: A Pilot Study
Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.
research Ectodysplasin Research: Where to Next?
Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Alopecia Areata: Gene Expression in Skin Samples from Patients
Alopecia areata involves immune response and gene changes affecting hair loss.
research Divergent Neuroactive Steroid Responses to Stress and Ethanol in Rat and Mouse Strains: Relevance for Human Studies
Stress and alcohol affect brain chemicals differently in rats, mice, and humans, influenced by genetic differences.
research Ectopic Expression of the Nude Gene Induces Hyperproliferation and Defects in Differentiation: Implications for the Self-Renewal of Cutaneous Epithelia
The nude gene causes skin cell overgrowth and improper development, leading to hair and urinary issues.
research FOXN1 Deficient Nude Severe Combined Immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene
Mutation in hairless gene may increase hair loss risk.
research The Naked Truth: Sphynx and Devon Rex Cat Breed Mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene
Mutation in hairless gene may increase hair loss risk.
research An X-Linked Gene Involved in Androgenetic Alopecia: A Lesson to Be Learned from Adrenoleukodystrophy
Gene linked to common hair loss found, may lead to new treatments.
research The Possible Implication of the S250C Variant of the Autoimmune Regulator Protein in a Patient with Autoimmunity and Immunodeficiency: In Silico Analysis Suggests a Molecular Pathogenic Mechanism for the Variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research Disorders of Keratinization
Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
research Genome-Wide Association Study of Skin Complex Diseases
Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
research Towards a Molecular Understanding of Hair Loss and Its Treatment
Future hair loss treatments should aim to extend hair growth, reactivate resting follicles, reverse shrinkage, and possibly create new follicles, with gene therapy showing promise.
research Specific Ectodermal Enhancers Control the Expression of Hoxc Genes in Developing Mammalian Integuments
The HoxC gene cluster and its enhancers are essential for developing hair and nails in mammals.
research Hair Follicle Disruption Facilitates Pathogenesis to UVB-Induced Cutaneous Inflammation and Basal Cell Carcinoma Development in Ptch+/- Mice
Damaged hair follicles make mice more prone to skin inflammation and skin cancer after UV exposure.
research Chrousos Syndrome: From Molecular Pathogenesis to Therapeutic Management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research Expression of an Olfactomedin-Related Gene in Rat Hair Follicular Papilla Cells
FP-1 is a key protein in rat hair growth, active only during the growth phase.
research Skipping of Exons by Premature Termination of Transcription and Alternative Splicing Within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
research Androgens Trigger Different Growth Responses in Genetically Identical Human Hair Follicles in Organ Culture Reflecting Their Epigenetic Diversity in Life
Male hormones cause different growth in identical human hair follicles due to their unique epigenetic characteristics.
research Enrichment of Specific Hair Follicle-Associated Cell Populations in Plucked Hairs Offers an Opportunity to Study Gene Expression Underlying Hair Traits
Plucked hairs can be used instead of skin biopsies to study hair traits because they contain specific cells related to hair.
research A Splice Variant in KRT71 Is Associated with Curly Coat Phenotype of Selkirk Rex Cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research Structural and Biochemical Changes Underlying a Keratoderma-Like Phenotype in Mice Lacking Suprabasal AP1 Transcription Factor Function
Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.