research The effect of dietary modulation of sulfur amino acids on cystathionine β synthase–deficient mice
Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
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300-330 / 1000+ results research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research 1397 LSD1 is critical for epidermal development and skin barrier formation
LSD1 is essential for healthy skin development and creating the skin's protective barrier.
research Mitochondrial dysfunction in diabetic neuropathy may be involved in the development of neuropathic pain via a reduction in neurosteroid synthesis
Mitochondrial problems in diabetic nerve damage might cause pain by lowering the production of certain nerve-related steroids.
research Overexpression of the 18 kDa translocator protein (TSPO) in the hippocampal dentate gyrus produced anxiolytic and antidepressant-like behavioural effects
Increasing TSPO in the brain reduces anxiety and depression.
research Single-Cell RNA Profiling of Human Skin Reveals Age-Related Loss of Dermal Sheath Cells and Their Contribution to a Juvenile Phenotype
Aging reduces dermal sheath cells, affecting youthful skin appearance.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research A Mutation in the Serum and Glucocorticoid-Inducible Kinase-Like Kinase (Sgkl) Gene is Associated with Defective Hair Growth in Mice
A mutation in the Sgkl gene causes defective hair growth in mice.
research Smurf2-induced degradation of SMAD2 causes inhibition of hair follicle stem cell differentiation
Increasing Smurf2 hinders hair follicle stem cell differentiation and wound healing.
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research 701 Signaling networks between stem cell precursors, transit amplifying progenitors, and their niche in developing hair follicles
Blocking Prostaglandin D₂ (PGD₂) could help treat hair loss.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research CircAGK regulates high dihydrotestosterone‐induced apoptosis in DPCs through the miR‐3180‐5p/BAX axis
CircAGK affects cell death in hair cells by controlling the miR-3180-5p/BAX pathway, which can lead to hair loss.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Faculty Opinions recommendation of Prostaglandin D2 inhibits hair growth and is elevated in bald scalp of men with androgenetic alopecia.
A substance called prostaglandin D2 is found more in bald scalps and it stops hair from growing. Blocking its receptor could potentially treat hair loss.
research Flavonoid 4,4′-dimethoxychalcone selectively eliminates senescent cells via activating ferritinophagy
The substance DMC helps get rid of aging cells by triggering a process that causes cell death, which could treat age-related diseases.
research Epidermal cell proliferation and modulation of the protective potency of dexamethasone against phorbol ester-induced ornithine decarboxylase activity
Dexamethasone reduces inflammation and delays skin cell changes caused by TPA.
research USING THE FROG EPIDERMIS TO UNCOVER DESMOSOME FUNCTION AND REGULATION IN THE DEVELOPING EMBRYO
Desmosomes are crucial for skin and heart development, and JNK may help regulate them.
research Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance
The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
research Premature aging syndromes: From patients to mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
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 Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
research Progressive Alopecia Reveals Decreasing Stem Cell Activation Probability during Aging of Mice with Epidermal Deletion of DNA Methyltransferase 1
Aging reduces stem cell activation, leading to hair loss in mice lacking a specific enzyme.
research La voie de la PGI2 pour améliorer la cicatrisation des plaies du pied diabétique
Targeting the PGI2 pathway may help heal diabetic foot ulcers.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Inhibition of 17α-hydroxylase/C17,20 lyase reduces gating deficits consequent to dopaminergic activation
Blocking CYP17A1 enzyme may help improve certain brain function issues related to dopamine.