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90-120 / 1000+ resultsresearch Spectrum of Phenotypes Associated with Human MC1R Variations
This review discusses the role of the MC1R gene in human pigmentation and its genetic variants, reporting no new results; the authors highlight its forensic applications for phenotypic prediction.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
research 203 Automated skin surface phenotype for melanoma risk assessment
This study found that using 3D total body imaging with convolution neural networks accurately identifies risk phenotypes for melanoma, suggesting improved objective stratification for early detection and prevention.
research The alopecia areata phenotype is induced by the water avoidance stress test in cchcr1-deficient mice
In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.
research Factors Driving Unique Urination Phenotypes of Male and Female 9-week-old C57BL/6J Mice
This study observed that circulating testosterone affects baseline sex differences in voiding function in C57BL/6J mice, with prostate lobe mass having a lesser impact.
research Iron deficient toxic milk leads to the mask phenotype in hephaestin knockout mice (907.4)
This study found that maternal hephaestin knockout in mice leads to neonatal hair loss, likely due to low iron levels in the mother's milk.
research 0439 Temporal–phenotype signatures of alopecia associated with GLP-1–based therapies: A PRISMA-ScR scoping review
GLP-1 therapies can cause hair loss, but hair often regrows after stopping or reducing the drug.
research Acquired Progressive Kinking of the Hair: A Narrative Review of the Androgen‐Dependent Phenotype
This review examines the androgen-dependent subtype of acquired progressive kinking of the hair and suggests it may be an early indicator of androgenetic alopecia, emphasizing the importance of distinguishing between subtypes for clinical decisions.
research Deletion of an enhancer in FGF5 is associated with ectopic expression in goat hair follicles and the cashmere growth phenotype
This study identifies a strong association between a 505-bp indel mutation in the FGF5 gene and cashmere growth in goats, suggesting potential use as a genetic marker in breeding programs.
research Prepregnancy Phenotype and Physiological Characteristics in PCOS
This study observed that women with PCOS had significant differences in body composition and some physiological markers compared to healthy women, which may have implications for pregnancy outcomes and long-term health risks.
research 1430 Modeling the onset of senescence associated secretory phenotype predicts therapeutic targets
This study found that inhibiting NF-κB Essential Modulator (NEMO) in senescent murine dermal fibroblasts successfully reduced key factors associated with the senescence associated secretory phenotype (SASP), highlighting its potential as a therapeutic target for aging-related diseases.
research Intermediate Hair Follicles from Patients with Female Pattern Hair Loss Are Associated with Nutrient Insufficiency and a Quiescent Metabolic Phenotype
This ex vivo study found that hair follicles in female pattern hair loss exhibited nutrient insufficiency and dormant metabolism, but maintained nutrient uptake capability, suggesting potential benefits of nutritional supplementation as an adjunct therapy.
research Patient reported androgen driven phenotypes do not associate with biochemical recurrence after radical prostatectomy
This study found that self-reported androgen-driven phenotypes, like balding and finger length ratios, were not associated with cancer aggressiveness or biochemical recurrence in prostate cancer after prostatectomy.
research 891 Comparison of phenotypes and transcriptomes of mouse skin-derived precursors and dermal mesenchymal stem cells
This study reported that mSKPs and DMSCs share similarities in biological characteristics but exhibit distinct transcriptome profiles, with mSKPs being more immune-related and DMSCs more associated with differentiation and disease pathways.
research Male Senescence Phenotypes Include Hair Loss and Hair Gain
This study found that higher scores of hair loss on the Hamilton-Norwood scale correlated with increased hair gain in the conchal bowl in men, suggesting potential age-related adaptations beyond cosmetic concerns.
research Reimagining Hair Science: A New Approach to Classify Curly Hair Phenotypes via New Quantitative Geometric and Structural Mechanical Parameters
This study aimed to identify new quantitative geometric and mechanical parameters for curly and kinky hair using various microscopy and mechanical analysis methods, revealing correlations between hair fiber geometry and mechanical performance to enhance personal care product development and promote cultural inclusion.
research Metabolic features of the reproductive phenotypes of polycystic ovary syndrome
This study reports that NIH PCOS is linked to more severe metabolic issues, including higher obesity and insulin resistance, compared to non-NIH PCOS phenotypes.
research Analysis of the human diseasome using phenotype similarity between common, genetic and infectious diseases
This study applied semantic text-mining to identify phenotypes linked to over 6,000 diseases, demonstrating that these phenotypes can accurately identify known disease-associated genes, creating a human disease network based on phenotypic similarity.
research The prevalence of metabolic disorders in various phenotypes of polycystic ovary syndrome: a community based study in Southwest of Iran
This study observed that among women with polycystic ovary syndrome, those with the most severe phenotype showed the highest levels of metabolic disturbances, indicating the need for metabolic screening in these cases.
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.
research Characterization of metabolic changes in the phenotypes of women with polycystic ovary syndrome in a large Mediterranean population from Sicily
The researchers reported that among Mediterranean Sicilian women with PCOS, Phenotype B exhibited the most severe metabolic abnormalities, notably obesity and altered glucose metabolism, whereas Phenotype D showed no such issues.
research Complex genetic dependencies among growth and neurological phenotypes in healthy children: Towards deciphering developmental mechanisms
This study found dependencies between genetic variants and various phenotypes related to fetal and early childhood growth and neurological development in healthy infants, suggesting significant gene candidates for further investigation.
research The impact of biomaterial characteristics on macrophage phenotypes in tissue engineering: a review
This review highlights that biomaterial properties can be designed to modulate macrophage activity, potentially reducing foreign body responses and enhancing tissue healing in regenerative medicine.
research Highly Upregulated Lhx2 in the Foxn1−/− Nude Mouse Phenotype Reflects a Dysregulated and Expanded Epidermal Stem Cell Niche
This study found that the Foxn1(-/-) nude phenotype significantly influences epithelial progeny in skin, with notable changes in stem cell niches not achievable in other models.
research Comprehensive Survey of Gut Microbiome Associations with Health Conditions in the Human Phenotype Project
This research found significant associations between gut microbiome composition and 14 out of 37 examined health conditions, suggesting that increased microbial abundance often aligns with favorable health states.
research Variations in anterior segment parameters among different phenotypes of polycystic ovary syndrome
This study found significantly elevated central corneal thickness and intraocular pressure in patients with polycystic ovary syndrome, suggesting it should be considered in evaluating anterior segment diseases and glaucoma in women.
research Cardiovascular and Metabolic Risk Profiles Across Different Phenotypes of Polycystic Ovary Syndrome
This study observed that women with PCOS exhibited higher levels of triglycerides, fasting insulin, HOMA-IR, total testosterone, DHEAS, and LH/FSH ratio, and lower HDL cholesterol compared to healthy controls, with these markers varying across different PCOS phenotypes.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
research Experimental Modulation of the Differentiated Phenotype of Keratinocytes from Epidermis and Hair Follicle Outer Root Sheath and Matrix Cells
This study found that distinct keratin profiles enabled the evaluation of epithelial differentiation in human hair follicles, with mesenchymal cells playing a critical role in epidermoid differentiation of follicular cells.