research Heterozygous COL5A1 Deletion in a Cat with Classical Ehlers-Danlos Syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
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research Patched-Associated Tumors: Modifier Genes and Pathogenesis
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
research Characterization of Xenobiotic Metabolizing Enzymes of a Reconstructed Human Epidermal Model from Adult Hair Follicles
The reconstructed skin model from hair follicles functions like human skin in processing chemicals and can be used to test ingredient safety.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research SFRP2/DPP4 and FMO1/LSP1 Define Major Fibroblast Populations in Human Skin
Two main types of fibroblasts with unique functions and additional subtypes were identified in human skin.
research The Role of AUTS2 in Neurodevelopment and Human Evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
research WNT10A Mutation Causes Ectodermal Dysplasia by Impairing Progenitor Cell Proliferation and KLF4-Mediated Differentiation
A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
research The E211 G>A Androgen Receptor Polymorphism Is Associated With a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia
E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research Hair Keratin KRT81 Is Expressed in Normal and Breast Cancer Cells and Contributes to Their Invasiveness
The hair keratin gene KRT81 is found in both normal and breast cancer cells and helps them invade surrounding tissues.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Sebaceous Gland Abnormalities in Fatty Acyl CoA Reductase 2 (Far2) Null Mice Result in Primary Cicatricial Alopecia
Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
research Motoneuron-Specific PTEN Deletion in Mice Induces Neuronal Hypertrophy and Regeneration After Facial Nerve Injury
Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
research Novel Compound Heterozygous Mutations in the Desmoplakin Gene Cause Hair Shaft Abnormalities and Culminate in Lethal Cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research Deletion of Hypoxia-Inducible Factor Prolyl 4-Hydroxylase 2 in FoxD1-Lineage Mesenchymal Cells Leads to Congenital Truncal Alopecia
Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.
research Deletion of Hypoxia-Inducible Factor Prolyl 4-Hydroxylase 2 in FoxD1-Lineage Mesenchymal Cells Leads to Congenital Truncal Alopecia
Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
research 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 Novel Biallelic RIPK4 Mutations Cause Ectodermal Dysplasia with Cutaneous Syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Lipoatrophy and Severe Metabolic Disturbance in Mice with Fat-Specific Deletion of PPARγ
Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
research Hereditary Vitamin D-Resistant Rickets (HVDRR) Owing to a Heterozygous Mutation in the Vitamin D Receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research P53-Dependent Transcriptional Regulation of EDA2R and Its Involvement in Chemotherapy-Induced Hair Loss
The study concludes that the EDA2R gene is activated by p53 during chemotherapy but is not necessary for chemotherapy-induced hair loss.
research 14-3-3σ Is Required for Club Hair Retention
The 14-3-3σ gene is essential for preventing hair loss.
research 2,3,7,8-Tetrachlorodibenzo-p-dioxin Increases the Expression of Genes in the Human Epidermal Differentiation Complex and Accelerates Epidermal Barrier Formation
TCDD speeds up skin barrier formation by increasing certain gene expressions.
research 1α,25-Dihydroxyvitamin D3 Modulates the Hair-Inductive Capacity of Dermal Papilla Cells: Therapeutic Potential for Hair Regeneration
Vitamin D3 can help improve hair growth by enhancing the function of specific skin cells and could be useful in hair regeneration treatments.
research Glucose Metabolism Regulates Expression of Hair-Inductive Genes of Dermal Papilla Spheres via Histone Acetylation
Hair growth genes work better with more glucose due to changes in gene-regulating markers.
research Botryococcus Terribilis Ethanol Extract Exerts Anti-Inflammatory Effects on Murine RAW264 Cells
Botryococcus terribilis Ethanol Extract may reduce inflammation by changing gene expression in cells.
research Syndactyly Type III and Hypotrichosis in Oculodentodigital Syndrome with GJA1 Mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research BJD Editor's Choice: Genetic Mutations in Greek Melanoma Patients, Dermoscopic Features of Pigmented Nodular Tumors, Herlitz Junctional Epidermolysis Bullosa in the Netherlands, and HDAC9 in Male-Pattern Baldness
Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
research Quantification of the Vitamin D Receptor-Coregulator Interaction
Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.