research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
Search
for
Sort by
Research
540-570 / 1000+ results 
research A Locus on Distal Chromosome 10 (Ahl4) Affecting Age-Related Hearing Loss in A/J Mice
Scientists found a gene in mice that causes early hearing loss.
research Peroxisome Proliferator-Activated Receptors (PPARs) and PPAR Agonists: The Future in Dermatology Therapeutics?
PPAR agonists show promise for skin conditions but need more research before being a main treatment.
research C-MYC-Induced Sebaceous Gland Differentiation Is Controlled by an Androgen Receptor/p53 Axis
The balance between androgen receptor and p53 is crucial for sebaceous gland differentiation.
research A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Unmet Medical Needs in Chronic, Non-Communicable Inflammatory Skin Diseases
There are still challenges in diagnosing and treating chronic skin diseases, but there is hope for future improvements.
research The Inflammatory Caspases-1 and -11 Mediate the Pathogenesis of Dermatitis in Sharpin-Deficient Mice
Certain proteins, caspases-1 and -11, are important in the early development of skin inflammation in mice.
research Wnt Signaling and Aging-Related Heart Disorders
Wnt signaling may be linked to heart diseases in aging and could be a target for future treatments.
research Pharmacological BACE1 and BACE2 Inhibition Induces Hair Depigmentation by Inhibiting PMEL17 Processing in Mice
Blocking BACE1 and BACE2 enzymes causes hair color loss in mice.
research Acne
Acne significantly affects mental health and quality of life, with research suggesting hormonal and genetic factors in its development and emphasizing early treatment to prevent scarring.
research Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research DKK1 Mediated Inhibition of Wnt Signaling in Postnatal Mice Leads to Loss of TEC Progenitors and Thymic Degeneration
Blocking Wnt signaling in young mice causes thymus shrinkage and cell loss, but recovery is possible when the block is removed.
research 46,XY DSD Due to Impaired Androgen Production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Defects in Mitochondrial DNA Replication and Oxidative Damage in Muscle of mtDNA Mutator Mice
Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
research How to Diagnose a Lipodystrophy Syndrome
The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Disruption of the Hedgehog Signaling Pathway Contributes to Hair Follicle Cycling Deficiency in VDR Knockout Mice
Mice without Vitamin D receptors have hair growth problems because of issues in the hedgehog signaling pathway.
research Decreased Androgen Receptor Gene Methylation in Premature Pubarche: A Novel Pathogenetic Mechanism?
Reduced AR gene methylation may cause early pubic hair growth in girls.
research Post-Transcriptional Regulation of Keratinocyte Progenitor Cell Expansion, Differentiation, and Hair Follicle Regression by miR-22
miR-22, a type of microRNA, controls hair growth and its overproduction can cause hair loss, while its absence can speed up hair growth.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Hair-Cycle-Dependent Expression of Parathyroid Hormone-Related Protein and Its Type I Receptor: Evidence for Regulation at the Anagen to Catagen Transition
Parathyroid hormone-related protein helps control hair growth phases in mice.
research The Slick Hair Coat Locus Maps to Chromosome 20 in Senepol-Derived Cattle
The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.
research Wnt Signaling: The Good and the Bad
Wnt signaling is important for development and cell regulation but can cause diseases like cancer when not working properly.
research Noncoding dsRNA Induces Retinoic Acid Synthesis to Stimulate Hair Follicle Regeneration via TLR3
Noncoding dsRNA boosts hair growth by activating TLR3 and increasing retinoic acid.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Chrousos Syndrome: From Molecular Pathogenesis to Therapeutic Management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research The Pharmacology of Regenerative Medicine
Regenerative pharmacology, which combines drugs with regenerative medicine, shows promise for repairing damaged body parts and needs more interdisciplinary research.
research Kin-Cohort Analysis of LRRK2-G2019S Penetrance in Parkinson's Disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research Idiopathic Hirsutism: Androgen Role and Treatment Options
The document concludes that more research is needed to understand excessive hair growth in women with normal hormone levels and regular ovulation.
research A Preliminary Study of Finasteride in Tourette Syndrome
Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.