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.
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research Intragenic Deletion in the Desmoglein 4 Gene Underlies the Skin Phenotype in the Iffa Credo Hairless Rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
research Apoptotic Cells Represent a Dynamic Stem Cell Niche Governing Proliferation and Tissue Regeneration
Dying cells can help with faster healing and new hair growth by releasing a growth-promoting molecule.
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
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
research Runx Family Genes in Tissue Stem Cell Dynamics
Runx genes are important for stem cell regulation and their roles in aging and disease need more research.
research Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, leading to their unique scales and skin features.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research MicroRNAs and Their Regulatory Interactions in the Human Hair Follicle
The research found that certain microRNAs are important for human hair growth and health.
research Androgen Action and 3D Culture Conditions Influence Dermal Papilla Cells' Inductive Properties: The Role of Wnt Agonists/Antagonists Balance
DHT reduces a cell's ability to promote hair growth, while 3D culture without DHT improves it.
research The Endocannabinoid Tone Regulates Human Sebocyte Biology
The endocannabinoid system affects oil production and inflammation in skin cells.
research An Underlying Mechanism of Hair Loss in Acrodermatitis Enteropathica
Zinc deficiency disrupts hair growth and cycle, but zinc supplements can fix this.
research Unveiling the Role of Estradiol in the Pathogenesis of Female Pattern Hair Loss
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Hairless And The Polyamine Putrescine Form A Negative Regulatory Loop In The Epidermis
Hairless protein and putrescine regulate each other, affecting hair growth and skin balance.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research Identification of 736T>A Mutation of Lipase H in Japanese Siblings with Autosomal Recessive Woolly Hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Corticotropin-Releasing Hormone and the Skin
CRH in the skin acts like the body's stress response system, affecting cell behavior and immune activity.
research FLCN, A Novel Autophagy Component, Interacts With GABARAP And Is Regulated By ULK1 Phosphorylation
The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
research An Essential Role for RXRα in the Development of Th2 Responses
RXRα is crucial for proper immune response and links diet to immune function.
research Skipping of Exons by Premature Termination of Transcription and Alternative Splicing Within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Spermidine/Spermine-N1-Acetyltransferase: A Key Metabolic Regulator
SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Mutations in the Helix Termination Motif of Mouse Type I IRS Keratin Genes Impair the Assembly of Keratin Intermediate Filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research Development of Woolly Hair and Hairlessness in a CRISPR-Engineered Mutant Mouse Model with KRT71 Mutations
Researchers made a mouse model with curly hair and hair loss by editing a gene.
research Expression of Hypothalamic-Pituitary-Thyroid Axis Related Genes in Human Skin
Thyroid-related genes are active in skin cells and may affect autoimmune conditions.