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.
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270-300 / 1000+ results research Co-operation between follicular ornithine decarboxylase and v-Ha-ras induces spontaneous papillomas and malignant conversion in transgenic skin
High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
research BAYONET trial: staged combination with encorafenib, binimetinib, plus cetuximab following encorafenib plus cetuximab for BRAF V600E-mutant metastatic colorectal cancer
The combination treatment showed a higher response rate but no significant survival benefits.
research The extracellular matrix dictates regional competence for tumour initiation
The extracellular matrix affects where tumors can start in the body.
research Analysis of Sequences Controlling Tissue-Specific and Hyperproliferation-Related Keratin 6 Gene Expression in Transgenic Mice
K6 gene expression can be controlled and manipulated in mice for studying skin disorders.
research Screening of Sheep Fibroblast Cell Line with the Spider Dragline Silk Protein Gene
Sheep cells were successfully modified to include a spider silk protein gene.
research Lgr5 marks cycling, yet long-lived, hair follicle stem cells
Lgr5 is a marker for active, long-lasting stem cells in mouse hair follicles.
research The agouti mouse model: an epigenetic biosensor for nutritional and environmental alterations on the fetal epigenome
Diet changes can protect against harmful environmental effects on fetal development.
research A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
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 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 The human type I keratin gene family: Characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain
The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
research Perspectives of Kennedy's disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research Irreversible and severe alopecia following docetaxel or paclitaxel cytotoxic therapy for breast cancer
Docetaxel and paclitaxel for breast cancer can cause permanent, severe hair loss.
research Baldness and the androgen receptor: the AR polyglycine repeat polymorphism does not confer susceptibility to androgenetic alopecia
AR polyglycine repeat doesn't cause baldness.
research p63: a crucial player in epithelial stemness regulation
p63 is essential for controlling epithelial stem cells and tissue health.
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 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 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 Primary Generalized Glucocorticoid Resistance and Hypersensitivity
The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
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 A preliminary study of finasteride in Tourette syndrome
Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
research Androgen receptor gene polymorphism and polycystic ovary syndrome
The conclusion is that androgen receptor gene polymorphism might be a marker for polycystic ovary syndrome, but more research is needed.
research Androgen receptor gene CAG repeat polymorphism in women with polycystic ovary syndrome
Longer CAG repeat lengths in the androgen receptor gene are linked to higher testosterone levels in women with PCOS.
research Men with Kennedy disease have a reduced risk of androgenetic alopecia
Men with Kennedy disease have less chance of hair loss.
research Desferrioxamine treatment of aceruloplasminemia: Long‐term follow‐up
Finasteride may help reduce symptoms in male Tourette syndrome patients.
research Aromatase deficiency in a male patient - Case report and review of the literature.
A male with aromatase deficiency improved bone health with estradiol treatment.
research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching (FRAP) Is an Integrated Measure of Receptor Function
Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
research Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family
The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.