research The prevalence and phenotypic features of polycystic ovary syndrome: a systematic review and meta-analysis
Polycystic ovary syndrome affects about 6-10% of women, with varying symptoms and the need for standardized global definitions.
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research Metabolic risk in PCOS: phenotype and adiposity impact
Women with PCOS face higher risks of diabetes and heart disease, and these risks increase with obesity.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Recent advances in Forensic DNA Phenotyping of appearance, ancestry and age
Forensic DNA Phenotyping can now better predict appearance, ancestry, and age from DNA, but more research is needed for precise police use.
research Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
FGF5 gene mutations cause long hair in domestic cats.
research Changes in the PCOS phenotype with age
PCOS symptoms change with age; younger women have higher androgen levels and less metabolic issues, while older women face more metabolic challenges despite milder PCOS symptoms.
research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research Insulin resistance and obesity among infertile women with different polycystic ovary syndrome phenotypes
Women with PCOS are more likely to have insulin resistance and obesity, especially those with the most severe type I PCOS.
research A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research Metabolic aspects of different phenotypes of polycystic ovary syndrome: Iranian PCOS Prevalence Study
The study suggests that being overweight or obese, not PCOS itself, is strongly linked to insulin resistance.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research Multiomics-empowered Deep Phenotyping of Ulcerative Colitis Identifies Biomarker Signatures Reporting Functional Remission States
Microvascular damage and platelet issues persist in ulcerative colitis remission, helping assess disease states.
research Morphogenesis and maintenance of the 3D thymic medulla and prevention of nude skin phenotype require FoxN1 in pre- and post-natal K14 epithelium
FoxN1 gene is essential for proper thymus structure and preventing hair loss.
research Observation of phenotypic variation among Indian women with polycystic ovary syndrome (PCOS) from Delhi and Srinagar
Indian women with PCOS from Delhi and Srinagar show different symptoms, with Delhi women having higher obesity and blood sugar issues, and Srinagar women showing more hair growth and testosterone levels.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype
Mutations in the Sgk3 gene cause fuzzy hair in mice.
research Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza
Selective breeding caused the unique curly hair in Mangalitza pigs.
research Comparing classic and newer phenotypes in Greek PCOS women: the prevalence of metabolic syndrome and their association with insulin resistance.
Greek women with classic PCOS are more likely to have metabolic syndrome and insulin resistance than those with newer PCOS types.
research Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges like inconsistent terms and limited genetic knowledge.
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 The Frequency of Various Phenotypes of Polycystic Ovarian Syndrome in Adolescents, Based on Rotterdam Criteria
The most common PCOS type in adolescents is hyperandrogenic with polycystic ovaries.
research Forensic DNA Phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.
research The PCOS Phenotypes in Unselected Populations (P-PUP) study: participant clinical features and data harmonization on analysis of individual participant data
PCOS affects 11% of women, highlighting the need for standardized diagnosis.
research Minoxidil Regulates Aging-Like Phenotypes in Rat Cortical Astrocytes In Vitro
Minoxidil may help reduce aging effects in brain cells.
research Polycystic Ovary Syndrome Phenotypes and Infertility Treatment
Different PCOS types respond uniquely to infertility treatments, with some having lower pregnancy rates and higher risks of complications.
research Global Landscapes of Human Phenotypic Variation in Inherited Traits
Different human traits like skin color and hair type vary between populations due to genetic adaptations to the environment.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Acquired Progressive Kinking of the Hair: A Narrative Review of the Androgen‐Dependent Phenotype
APKH in young males may signal early hair loss and needs early attention.