research The melanocyte photosensory system in the human skin
Human skin's melanocytes respond to light by changing shape, producing pigments and hormones, which may affect sleep patterns.
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research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Ca 2+ -mediated protein citrullination regulates proliferation in the regenerating and malignant CNS
Ca²⁺-mediated protein citrullination controls cell growth in the CNS and may help treat brain tumors.
research Adrenal causes of endocrine hypertension in childhood or adolescence
Adrenal disorders often cause high blood pressure in young people.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Gonads
The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
research Caractérisation d’une modification «bigarré» de la couleur du pelage chez le chat domestique
Variegated coat color in cats is linked to the Silver locus.
research Long-term time-lapse multimodal intravital imaging of regeneration and bone-marrow-derived cell dynamics in skin
The study introduced a new imaging technology to track skin healing and bone marrow cell activity over time.
research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Study on linear dermatoses
Linear skin conditions are rare, more common in females, and often misdiagnosed without tissue analysis.
research Dermatologic care of patients with differences of sex development
Dermatologists are crucial in providing personalized care for patients with sex development differences.
research CURRENT UNDERSTANDING OF VITILIGO: A COMPREHENSIVE LITERATURE REVIEW
Vitiligo is a systemic disease with psychological effects, and new treatments focus on personalized care.
research The epidermis: rising to the surface
The document concludes that recent research has improved understanding of skin diseases and the balance between cell growth and differentiation in the epidermis.
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 Prevalence and Burden of Vitiligo in Africa, the Middle East and Latin America
Vitiligo causes significant emotional stress in Africa, the Middle East, and Latin America, with limited treatment options available.
research Extensive Nevus Comedonicus Along the Lines of Blaschko – Through the Eyes of Dermoscope and Histopathology
Treatment reduced cystic lesions but didn't change existing Nevus Comedonicus.
research Olympic and Board Game Dermatology: Exploring Eponyms Linking Skin Conditions to Sports and Strategy Games
Sports influence skin condition names and help in diagnosis and treatment.
research Isolated Linear Discoid Lupus Erythematosus of Scalp Following Lines of Blaschko
Linear Discoid Lupus Erythematosus of the scalp can cause hair loss and should be considered in similar cases.
research Role of FGFR2-signaling in the pathogenesis of acne
Increased FGFR2b signaling, influenced by androgens, plays a role in causing acne.
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 Poster Presentations
Ustekinumab successfully treated a man's resistant skin condition when other treatments failed.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Abstracts from the 55th European Society of Human Genetics (ESHG) 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 Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research The molecular basis of human keratin disorders
research Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA
Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.
research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
research MEX3A regulates Lgr5 + stem cell maintenance in the developing intestinal epithelium
MEX3A is crucial for maintaining intestinal stem cells in mice.
research Venus trap in the mouse embryo reveals distinct molecular dynamics underlying specification of first embryonic lineages
Tmem50b and 2610305D13Rik genes play key roles in early mouse embryo development.