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research 1325 Age-dependent loss of the stemness and antimicrobial defense function of dermal fibroblasts is mediated by TGFbeta
Aging reduces skin cell renewal and defense against germs due to TGFbeta, but blocking TGFbeta could help restore these functions.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research 583 RNA sequencing of immortalised balding and non balding DPCs identifies potential balding gene signatures
The research found specific genes that are more active in balding cells, which could be causing hair loss.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research Isoallopregnanolone reduces tic‐like behaviours in the D1 CT ‐7 mouse model of Tourette syndrome
Isoallopregnanolone may be a safe and effective treatment for reducing tics in a mouse model of Tourette syndrome.
research Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Demethylation of ITGAV accelerates osteogenic differentiation in a blast-induced heterotopic ossification in vitro cell culture model
Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
research Chronic Exposure with 5‐Alpha Reductase Inhibitor Ameliorates Anxiety and Depression‐like Behaviors By Reducing Systemic Oxidative Stress in D‐galactose‐Induced Aging Male Rats
Finasteride may help reduce anxiety and depression in elderly but might cause depression in young men.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research SUN-376 Isolated DHEA-S Production by an Adrenal Neoplasm: Clinical, Biochemical, and Pathologic Findings
A rare adrenal tumor in a woman only made DHEA-S, causing hair thinning, and was removed, fixing the hormone level.
research Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients
The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Disruption of androgen metabolism, regulation and effects : involvement of steroidogenic enzymes
Anabolic steroids and inflammation can disrupt androgen metabolism, potentially causing health issues.
research Sigma 1 receptor-related neuroactive steroids modulate cocaine-induced reward.
Neuroactive steroids affect cocaine's rewarding effects through the sigma1 receptor.
research 1386 Trichodysplasia spinulosa small T antigen drives ectopic hair follicle development in adult transgenic mice
The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
research Investigation the role of SIRT3, SIRT7, NFATC1, and PDL-1 genes in androgenetic alopecia
SIRT3 and SIRT7 genes may play a role in hair loss.
research The up‐regulation of 14‐3‐3 proteins in Smad4 deficient epidermis and hair follicles at catagen
Increased 14-3-3 proteins may block hair cycle regression, causing hair loss.
research Degradation of human hair keratin scaffold material used to repair injured skeletal muscles of rabbits
Human hair keratin scaffold material degrades in muscles mainly through the ubiquitin system with lysosome help.
research Enrichment and Characterization of Human Dermal Stem/Progenitor Cells by Intracellular Granularity
Scientists identified a unique type of human skin stem cell that could help with tissue repair.
research Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults
A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.
research Conversion of C57Bl/6 mice from a tumor promotion–resistant to a –sensitive phenotype by enhanced ornithine decarboxylase expression
Increased ODC expression makes normally tumor-resistant mice more prone to tumor development.
research SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
research Generating mouse models of degenerative diseases using Cre/lox-mediated in vivo mosaic cell ablation
The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.
research Progeroide Syndrome
Genetic mutations affecting DNA repair cause early aging symptoms in progeroid syndromes.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research Ectoderm-Targeted Overexpression of the Glucocorticoid Receptor Induces Hypohidrotic Ectodermal Dysplasia
Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.