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.
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research Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
Certain genetic variations are linked to increased androgen levels in PCOS, but more research is needed to understand these connections fully.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research Case Report: Bi-Allelic Missense Variant in the Desmocollin 3 Gene Causes Hypotrichosis and Recurrent Skin Vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research WNT10A, Dermatology and Dentistry
Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
research Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research De Novo Single-Nucleotide and Copy Number Variation in Discordant Monozygotic Twins Reveals Disease-Related Genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Hair Follicular Expression and Function of Group X Secreted Phospholipase A2 in Mouse Skin
sPLA2-X is crucial for normal hair growth and follicle health.
research Non-Endocrine Alopecia in Dogs and Cats: Conditions, Treatments, and Prognoses
The document concludes that non-endocrine alopecia in pets varies in treatment effectiveness and often has a poor prognosis, especially in cats.
research Hairless: A Nuclear Receptor Corepressor Essential for Skin Function
The Hairless gene is crucial for healthy skin and hair growth.
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 Marie-Unna Hereditary Hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Eph/Ephrin Signaling in Epidermal Differentiation and Disease
Eph/ephrin signaling is important for skin cell behavior and could be targeted to treat skin diseases.
research The Role of Leptin in Selected Skin Diseases
Leptin affects skin and hair health and may worsen some skin conditions, but more research is needed to understand its full impact.
research Learning From Nudity: Lessons From The Nude Phenotype
The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
research The Expanding Significance of Keratin Intermediate Filaments in Normal and Diseased Epithelia
Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
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 The L412F Variant of Toll-Like Receptor 3 Is Associated with Cutaneous Candidiasis, Increased Susceptibility to Cytomegalovirus, and Autoimmunity
The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
research Abstracts from the 2009 Annual Meeting of the Society for Pediatric Dermatology
UVB is good for a skin condition in Asian kids, a lotion works for head lice, a drug helps with a skin blistering disorder, a foam reduces itchiness in skin inflammation, birthmarks can be more widespread, and criteria for a neurocutaneous disorder were agreed upon.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Rapp-Hodgkin Syndrome: A Review of Hair and Hair Color Aspects
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Endocrinology
The document concludes that inflammation markers can be used in diabetes, vitamin D3 affects immune pathways, hyperthyroidism changes hormone levels, androgen levels help diagnose Adrenocortical Carcinoma, erectile dysfunction is linked to diabetes, hypogonadism is common in HIV-infected males, and hormones can be biomarkers for various conditions.
research Using the Zebrafish Lateral Line to Uncover Novel Mechanisms of Action and Prevention in Drug-Induced Hair Cell Death
Zebrafish helped find new ways to prevent drug-induced hair cell death and potential treatments for hearing loss.
research Liposomes in Dermatology Today
Liposomes improve drug delivery and reduce skin irritation in dermatology.
research Phospholipase A2 in Skin Biology: New Insights from Gene-Manipulated Mice and Lipidomics
Phospholipase A2 enzymes play key roles in skin health and disease.
research Lysophospholipid Mediators in Health and Disease
Lysophospholipids like LPA and S1P are important for hair growth, immune responses, and vascular development, and could be targeted for treating diseases.
research Morphological Approach to Hair Disorders
Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.
research Novel Adenosine Triphosphate-Binding Cassette, Subfamily A, Member 12 Mutations Associated with Congenital Ichthyosiform Erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.