research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
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780-810 / 1000+ resultsresearch Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
research Molecular Dissection of Mesenchymal–Epithelial Interactions in the Hair Follicle
Understanding gene expression in hair follicles can reveal insights into hair growth and disorders.
research 415 IL-17C: Checkpoint in innate skin immunology
IL-17C is important in inflammatory skin diseases and could be a target for treatment.
research 085 Post-translational regulation of hair keratins in transfected COS-1 cells
research 1336 The de novo DNA methyltransferase DNMT3A is required for epidermal homeostasis
DNMT3A is crucial for healthy skin and hair growth.
research Identification and characterization of the hamster polyomavirus middle T antigen
The hamster polyomavirus middle T antigen is linked to tumors in hamsters and associates with a specific tyrosine kinase.
research Elevated ornithine decarboxylase activity promotes skin tumorigenesis by stimulating the recruitment of bulge stem cells but not via toxic polyamine catabolic metabolites
Increased ODC activity leads to skin tumors by recruiting stem cells, not by toxic byproducts.
research Keratin K15 as a Biomarker of Epidermal Stem Cells
Keratin 15 is not a reliable sole marker for identifying epidermal stem cells because it's found in various cell types.
research Ectodysplasin-A2 induces dickkopf 1 expression in human balding dermal papilla cells overexpressing the ectodysplasin A2 receptor
A protein called ectodysplasin-A2 increases a hair growth inhibitor in balding cells, which could be a target for hair loss treatment.
research Biological activity and hair inducing function of biomimetic dermal papilla spheres prepared by hanging drops of methacrylate gelatin
Biomimetic dermal papilla spheres can help regenerate hair to some extent.
research Intermolecular NH2-/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
research Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations
Researchers found 15 new genetic links to skin traits in Japanese women.
research Characterization of sciellin, a precursor to the cornified envelope of human keratinocytes
Sciellin is a protein that helps form protective layers in skin, hair, and nails.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Immunological Skin Diseases
Immunological skin diseases in pigs are rare and can be caused by immune system issues or external factors.
research Structural and biochemical changes underlying a keratoderma-like phenotype in mice lacking suprabasal AP1 transcription factor function
Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
research ROS-scavenging microneedles loaded with Portulaca oleracea L.-derived exosomes for atopic dermatitis therapy
A new microneedle patch effectively treats atopic dermatitis by reducing skin stress and restoring immune balance.
research The investigation of selective sphingosine-1 phosphate receptor 1&4 modulator to treat alopecia areata mouse model
NXC736 significantly reduced hair loss in mice with alopecia areata.
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 Structural and dynamic insights into substrate binding and catalysis of human lipocalin prostaglandin D synthase
The research explains how a human enzyme binds and processes its substrate, which could relate to its role in biological functions and hair loss.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research JAK inhibition decreases the autoimmune burden in Down syndrome
JAK inhibition may help manage autoimmune conditions in Down syndrome.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Dynamic changes of genomic methylation profiles at different growth stages in Chinese Tan sheep
DNA methylation changes in Tan sheep affect growth and fur traits.
research Erosive pustular dermatosis of the scalp: causes and treatments
A rare scalp condition mainly in older women can be treated with various alternatives to steroids, which may have fewer side effects.
research A Novel Approach to Pattern Dermal Papilla Spheroids in Dermal–Epidermal Composites Using Non-Adherent Microwell Arrays
The new method may improve skin grafts and hair growth.
research Function and interactions of the Ysc84/SH3yl1 family of actin- and lipid-binding proteins
The Ysc84/SH3yl1 protein family is important for cell movement and the process of taking in materials by interacting with actin and cell membranes.
research Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature
Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.