research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
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research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research Polycystic ovarian syndrome
PCOS is a common hormonal disorder with symptoms like irregular periods and excess hair growth, managed with lifestyle changes and medications.
research Body Composition and Characterization of Skinfold Thicknesses from Polycystic Ovary Syndrome Phenotypes. A Preliminar Case-Control Study
Women with PCOS have higher body fat and skinfold thickness, especially in the H-O-POM phenotype.
research Cancer risk in polycystic ovary syndrome patients: Common treatments and future perspectives
PCOS is linked to a higher risk of endometrial cancer but not ovarian or breast cancer, and more research is needed on its role in cancer development and treatment effects.
research 244 Defective maintenance of hair follicle stem cells through COL17A1 loss orchestrates the hair follicle aging program
Loss of COL17A1 causes hair follicle stem cells to age and leads to hair loss.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
research Integrated Transcriptome Analysis of lncRNA, miRNA, and mRNA Reveals key Regulatory Modules for Polycystic Ovary Syndrome
research Genetic Upregulation of Activated Protein C Mitigates Delayed Effects of Acute Radiation Exposure in the Mouse Plasma
Activated protein C helps protect mice from radiation damage.
research Polyamine Oxidase Expression Is Downregulated by 17β-Estradiol via Estrogen Receptor 2 in Human MCF-7 Breast Cancer Cells
17β-estradiol lowers polyamine oxidase levels in breast cancer cells through estrogen receptor 2.
research Nevus comedonicus syndrome: a case associated with multiple basal cell carcinomas and a rudimentary toe
A man with nevus comedonicus syndrome had multiple skin issues, including basal cell carcinomas, which improved with treatment.
research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Evaluation of cardiac risk marker levels in obese and non-obese patients with polycystic ovaries
Obese and non-obese women with PCOS have higher heart risk markers, especially if they are obese.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Effect of PTPN22, FAS/FASL, IL2RA and CTLA4 genetic polymorphisms on the risk of developing alopecia areata: A systematic review of the literature and meta-analysis
The T allele of the PTPN22 gene may increase the risk of alopecia areata.
research A patient with combined polycystic ovary syndrome and autoimmune polyglandular syndrome type 2
A woman was the first known case to have both polycystic ovary syndrome and autoimmune polyglandular syndrome type 2, suggesting a need to check for both conditions in similar patients.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
Certain genetic variations are linked to increased androgen levels in PCOS, but more research is needed to understand these connections fully.
research Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study
Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
research Pilomatricoma in the infraorbital region
Pilomatricoma is a rare, benign skin tumor that requires surgical removal for best results.
research Landing Eyes on Unnoticed Disorder: A Polycystic Ovary Syndrome
Polycystic Ovary Syndrome (PCOS) is a common but often undiagnosed disorder in women that can cause irregular periods, infertility, and other symptoms, and can be managed with lifestyle changes, medication, and sometimes surgery.
research Clinical and Reproductive Profile of Women with Polycystic Ovarian Syndrome Attending the Department of Obstetrics and Gynecology: A Retrospective Hospital-Based Study
PCOS causes various symptoms and needs early diagnosis and management.
research Primary cicatricial alopecias are characterized by dysregulation of shared gene expression pathways
Similar treatments might work for different types of scarring hair loss.
research Acrodermatitis Enteropathica
Acrodermatitis enteropathica is a rare inherited disorder causing skin issues, diarrhea, and hair loss.
research Rotterdam criteria–based diagnostic subtype is not a strong predictor of cutaneous phenotype in patients with polycystic ovary syndrome: A cross-sectional study
The type of PCOS a woman has doesn't strongly predict her skin or metabolic symptoms; obesity is a more important factor.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Gene expression of FOXA1 and CCL2 in different phenotypes of infertile women with polycystic ovarian syndrome
FOXA1 and CCL2 genes are more active in women with PCOS, varying by phenotype.
research A Case of Steatocystoma Multiplex in a Psoriatic Patient during Treatment with Anti-IL-12/23
Ustekinumab treatment may reveal a genetic tendency for steatocystoma multiplex in psoriasis patients.
research History of discovery of polycystic ovary syndrome
Polycystic ovary syndrome (PCOS) was first described in 1721, officially diagnosed in the 1990s, and is now known to be partly genetic and linked to insulin resistance, with increased risk of cardiovascular disease and carbohydrate metabolism issues.