research The role of vitamin D in alopecia areata
Vitamin D might help treat alopecia areata.
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810-840 / 1000+ results research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research A Role for Steroid 5 alpha-reductase 1 in Vascular Remodelling During Endometrial Decidualisation
The enzyme 5α-reductase is important for proper blood vessel development during the fertility-related transformation of the uterus lining.
research Phenotyping mice with skin, hair, or nail abnormalities: A systematic approach and methodologies from simple to complex
Understanding genetic variations in mice is crucial for studying skin, hair, or nail abnormalities.
research Male sex hormone and reduced plakoglobin jointly impair atrial conduction and cardiac sodium currents
Male hormones and reduced plakoglobin can impair heart electrical function and increase arrhythmia risk in males.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research Transcriptome-based Selection and Validation of Optimal House-keeping Genes for Skin Research in Goats (Capra hircus)
NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.
research Persistent hyperparathyroidism in vitamin D-dependent rickets type 2A does not prevent normalization of hypophosphatemia or healing of the rickets
Persistent hyperparathyroidism doesn't stop rickets healing or phosphate level normalization in VDDR2A.
research 9. 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 Hair of the Dog: Identification of a Cis-Regulatory Module Predicted to Influence Canine Coat Composition
Researchers found a genetic region that influences the number of coat layers in dogs.
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Transgenic mouse models support HCR as an effector gene in the PSORS1 locus
The HCR gene contributes to psoriasis risk.
research Animal models of human skin disease
Mutations in certain skin proteins cause severe skin issues, while others have limited effects, highlighting the need to understand these proteins for better treatments.
research Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets
A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
research EX VIVO DRUG SENSITIVITY EVALUATION OF A RARE ZMYM2::FGFR1+ LEUKEMIA PATIENT
Pemigatinib may be effective for treating ZMYM2::FGFR1 fusion-positive leukemia.
research Polydeoxyribonucleotide in Skincare and Cosmetics: Mechanisms, Therapeutic Applications, and Advancements Beyond Wound Healing and Anti-aging
PDRN from trout sperm helps skin and hair regeneration but is costly and complex to produce.
research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker
A genetic marker linked to a type of hair loss was found in most patients studied.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research A mutation in MAP2 is associated with prenatal hair follicle density
A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
research LB1256 TRIV-509, a dual inhibitor of KLK5 and KLK7, rapidly improves barrier integrity and markers of epidermal differentiation in atopic dermatitis skin explants
TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Correlation and regression analysis of the KRT27 and ELOVL4 genes in cashmere fineness and other production performances in Liaoning cashmere goats
Certain gene combinations improve cashmere quality and production in Liaoning goats.
research 17beta Hydroxysteroid Dehydrogenase Type 3 Inhibitors
The document's conclusion cannot be provided because the document is not available or cannot be read.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Interventions for preventing the progression of autosomal dominant polycystic kidney disease
Tolvaptan can slow kidney disease progression, but doesn't affect mortality or kidney failure.
research The human promyelocytic leukemia protein is a tumor suppressor for murine skin carcinogenesis
The PML protein helps prevent skin cancer in mice.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.