research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
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research Perspectives of Kennedy's disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research Disruption of the hedgehog signaling pathway contributes to the hair follicle cycling deficiency in Vdr knockout mice
Mice without Vitamin D receptors have hair growth problems because of issues in the hedgehog signaling pathway.
research Analogs of human genetic skin disease in domesticated animals
Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Differences in Expression of Specific Biomarkers Distinguish Human Beard from Scalp Dermal Papilla Cells
Beard and scalp hair cells have different gene expressions, which may affect beard growth characteristics.
research Cell-Type-Specific Chromatin States Differentially Prime Squamous Cell Carcinoma Tumor-Initiating Cells for Epithelial to Mesenchymal Transition
Different types of skin cells have unique genetic markers that affect how likely they are to spread cancer.
research A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia
The EDAR gene greatly affects hair thickness in Asian populations.
research COVID-19 and endocrine and metabolic diseases. An updated statement from the European Society of Endocrinology
People with diabetes or obesity should manage their conditions carefully as they have a higher risk of severe COVID-19.
research From neural crest cells to melanocytes: cellular plasticity during development and beyond
Melanocyte development from neural crest cells is complex and influenced by many factors, and better understanding could help treat skin disorders.
research Identification of Ectodysplasin Target Genes Reveals the Involvement of Chemokines in Hair Development
Chemokine signaling is important for hair development.
research Induction of hair follicle dermal papilla cell properties in human induced pluripotent stem cell-derived multipotent LNGFR(+)THY-1(+) mesenchymal cells
Researchers found a way to create cells from stem cells that act like human cells important for hair growth and could be used for hair regeneration treatments.
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 Adult epidermal Notch activity induces dermal accumulation of T cells and neural crest derivatives through upregulation of jagged 1
Activating Notch in adult skin causes T cells and neural crest cells to gather, leading to skin issues.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Rooster feathering, androgenic alopecia, and hormone-dependent tumor growth: What is in common?
Sex hormones affect hair and feather growth and may help manage alopecia and hormone-dependent cancers.
research Major depletion of SOX2+ stem cells in the adult pituitary is not restored which does not affect hormonal cell homeostasis and remodelling
The pituitary gland functions normally even after losing most SOX2+ stem cells.
research Adipose stem cells from type 2 diabetic mice exhibit therapeutic potential in wound healing
Fat stem cells from diabetic mice can still help heal wounds.
research Síndrome do nevo de Becker
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research Perspectives in dermatopathology: telomeres and telomerase in ageing and cancer; with emphasis on cutaneous disease
Short telomeres contribute to aging and cancer, and while telomerase can delay aging, it may also promote cancer.
research Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research Knowledge, practice and adverse reactions amongst Hair dye users - A cross sectional study
Despite adverse effects, people continue using hair dyes for aesthetic reasons, highlighting the need for safer options.
research Sexually dimorphic sail feathers in the Mandarin duck as a model for lifelong developmental modulation
Mandarin duck sail feathers change with seasons due to hormones and genetic regulation.
research Safety of Biological Therapies for Severe Asthma: An Analysis of Suspected Adverse Reactions Reported in the WHO Pharmacovigilance Database
Biologics for severe asthma have known side effects, but some new risks need more study.
research Definition of hyperandrogenism
The document suggests new ways to assess and diagnose hyperandrogenism to improve accuracy.
research Endo&Art why Diana is depicted with mild androgenic alopecia?
Possible endocrine disorders caused woman's hair loss and obesity in painting.
research Pluripotent Stem Cell Technology: A Promising Remedy for Hypopigmentation Disorders
Pluripotent stem cells show promise for treating skin color loss disorders like vitiligo.
research 131 Mutational landscape of extramammary Paget disease
The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.