research Elucidating the anti-aging mechanism of Si Jun Zi Tang by integrating network pharmacology and experimental validation in vivo
Si Jun Zi Tang may slow aging by affecting specific cell signaling pathways.
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research Abstracts
Young HS patients often have other physical and mental health issues, and research on HS covers a wide range of topics including genetics, triggers, treatments, and the need for more data.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Situation-Specific Purposes and Epistemic Games: A Framework for Teaching the Evaluation of Causal Information
The framework helps people evaluate scientific information for specific needs.
research Efficient Editing of CSLD2 Orthologue by CRISPR/Cas9 Affects Cell Morphogenesis of Root Hair in Spinach
CRISPR/Cas9 editing in spinach affects root hair growth by altering specific genes.
research Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research A Systematic Scoping Review and Conceptual Analysis of New-Onset Fibromyalgia Manifestations After Non-Hospitalized COVID-19: Empirics, Definitions, Methodologies, Pathophysiology, Mapping of Literature, and Knowledge Gaps
New-onset fibromyalgia after COVID-19 is poorly understood, needing better definitions and studies.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Patched-assoziierte Tumoren: Modifikatorgene und Pathogenese
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 A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
Genetic factors influence hair traits like shape, color, and greying in Latin Americans.
research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
research Polycystic ovary syndrome
PCOS is a complex condition with major health impacts, needing more research for better diagnosis and treatment.
research Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria
The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
research Significance of the polyglutamine tract polymorphism in the androgen receptor
The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
research Human genetic basis of coronavirus disease 2019
Genetic differences affect COVID-19 severity and treatment development.
research Hypertension and Reproduction
Reproductive factors can increase hypertension risk and affect cardiovascular health.
research Understanding the role of prostaglandin E2 in regulating human platelet activity in health and disease
Prostaglandin E2 affects human platelet activity in complex ways that could lead to personalized heart disease treatments.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Relationship between serum anti-Mullerian hormone and intrafollicular AMH levels in PCOS women
Women with PCOS have higher levels of AMH in their blood and follicles, and this can help predict their risk of overreaction to fertility treatments.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research PCOS: update and diagnostic approach
The document concludes that more research is needed to fully understand the causes of PCOS.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Cardiovascular disease risk in women with hyperandrogenism, oligomenorrhea/menstrual irregularity or polycystic ovaries (components of polycystic ovary syndrome): a systematic review and meta-analysis
Women with irregular periods have a higher risk of heart disease.
research FLCN regulates transferrin receptor 1 transport and iron homeostasis
FLCN helps control iron levels in cells.
research Radiotherapy-Induced Skin Fibrosis: Pathophysiology, Emerging Therapeutics, and the Role of Dermatology
Radiotherapy can cause skin fibrosis, which is often overlooked and needs better treatment and evaluation.
research Immunosenescence and inflammaging in Parkinson’s disease: mechanisms and therapeutic prospects
Age-related immune changes worsen Parkinson's disease, suggesting new treatment strategies.
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.