research Biology of the skin and dermatological disease
This article reviews the anatomy and pathology of skin and hair to aid in diagnosing skin diseases and discusses potential therapies, without reporting new clinical results.
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390-420 / 1000+ results research Sphingolipid metabolism orchestrates establishment of the hair follicle stem cell compartment
This study found that deleting ceramide synthase 4 in skin epidermis stem cells disrupts hair follicle and skin barrier function, leading to immune responses similar to atopic dermatitis, due to imbalances in lipid composition affecting differentiation.
research The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
research BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the AIRE gene mutation treated with ruxolitinib
This study details a case of a 20-year-old woman with APECED syndrome and alopecia areata who experienced complete scalp hair regrowth and improved quality of life after nine months of ruxolitinib treatment, highlighting the drug's effectiveness for severe AA linked to AIRE gene mutation.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
This case report found that a child with acrodermatitis enteropathica showed significant improvement in symptoms after continuous zinc supplementation and identified two SLC39A4 mutations through genetic sequencing.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
This case report describes a 4-month-old boy with anhidrotic ectodermal dysplasia and immunodeficiency who showed minimal improvement with initial treatments but significant improvement after an umbilical cord blood transplantation.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
research The role of mutations on gene AR, in androgenetic alopecia syndrome
This article reviews the pattern and progression of androgenic alopecia in men and women, but it does not present new clinical findings.
research Gene Expression During Drosophila Wing Morphogenesis and Differentiation
In this study on Drosophila wings, researchers identified 435 genes with significant expression changes during wing hair morphogenesis, and found new phenotypes for 9 genes through functional validation.
research The ITGB6 gene: its role in experimental and clinical biology
This article reviews the structure and regulation of the ITGB6 gene and discusses its role in integrin αvβ6 expression, with no new experimental results reported.
research Basal cell carcinomas acquire secondary mutations to overcome dormancy and progress from microscopic to macroscopic disease
In this study, researchers found that basal cell carcinomas with common Hedgehog signaling mutations may require additional mutations to hyperactivate downstream signaling and progress beyond dormancy.
research Growth Hormone and the Human Hair Follicle
This article reviews current knowledge and research gaps on growth hormone in hair follicle biology, highlighting its complex role and suggesting further exploration to reveal nonclassical skin functions.
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
This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.
research The role of aquaporins in polycystic ovary syndrome – A way towards a novel drug target in PCOS
This study suggests that dysfunctions and altered expression of aquaporins may play a role in PCOS-related disorders, potentially impacting folliculogenesis and integrating with the insulin-dependent hypothesis of PCOS pathogenesis.
research European Society of Endocrinology Clinical Practice Guideline: Endocrine work-up in obesity
These guidelines recommend testing thyroid function in patients with obesity due to common hypothyroidism, and highlight that weight loss is crucial for addressing hormonal imbalances, with only modest weight loss benefits from treating endocrine disorders.
research Epithelial Integrity Is Maintained by a Matriptase-Dependent Proteolytic Pathway
This study found that matriptase, a membrane serine protease, is crucial for maintaining multiple types of epithelial tissues in mice, with its absence leading to severe organ dysfunction and increased permeability.
research Development and homeostasis of the sebaceous gland
This review discusses the role of signaling networks in sebaceous gland development and disorders, highlighting recent insights from mouse models and cell line studies, but reports no new experimental results.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.
research Peroxisome proliferator-activated receptors (PPARs) and PPAR agonists: the ‘future’ in dermatology therapeutics?
This review discusses the role of peroxisome proliferator-activated receptors and their agonists in dermatology but reports no new clinical results.
research Molecular Genetic and Endocrine Mechanisms of Hair Growth
This review discusses hormonal influences on hair growth and suggests that understanding hormone-gene interactions may improve treatment of hirsutism and alopecia, but reports no new clinical findings.
research The mineralocorticoid receptor as a novel player in skin biology: beyond the renal horizon?
This review discusses the role of the mineralocorticoid receptor in skin biology, highlighting its potential involvement in keratinocyte and hair physiology, and proposes it may affect the side effects of glucocorticoid use.
research Developing stratified epithelia: lessons from the epidermis and thymus
This review highlights similarities in the development of thymus and skin epidermis, reporting no new results; the authors emphasize shared molecular mechanisms despite different embryonic origins.
research Planar cell polarity effector gene Intu regulates cell fate-specific differentiation of keratinocytes through the primary cilia
This study found that disrupting the inturned gene in developing mouse epidermis halted hair follicle formation due to impaired keratinocyte differentiation, highlighting primary cilia's role in tissue-specific planar cell polarity signaling.
research The Role of Nrf2 in Hearing Loss
This review discusses the role of Nrf2 in hearing loss and its potential as a target for developing hearing protection drugs, but reports no new clinical results.
research Therapeutic Androgen Receptor Ligands
Androgens and SARMs play a role in body mass, frailty, skin health, and hair growth, and are used in treating prostate cancer, acne, and hair loss, with potential for new uses and improved versions in the future.
research Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance
This review summarizes the clinical features and molecular causes of Primary Generalized Glucocorticoid Resistance, highlighting new findings from the characterization of mutations in the NR3C1 gene, but reports no new experimental results.
research The effect of testosterone, cyproterone acetate, and minoxidil on hair loss in the androchronogenetic alopecia mouse
This report introduces a mouse model with androgen-dependent alopecia, suggesting it as a potential alternative for studying hair loss mechanisms and testing treatments.
research A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
This study identified a genetic variant in the SGK3 gene related to hairlessness in Scottish Deerhounds, suggesting a similar role for androgen-independent hair loss in humans.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
This study found that early biochemical screening and molecular confirmation are crucial for distinguishing profound from partial biotinidase deficiency, which supports timely treatment and management in symptomatic children.