research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
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30 / 1000+ results research The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs
Wrinkled skin in Xiang pigs is linked to gene changes related to oxidative stress and the extracellular matrix.
research Spectrum of Phenotypes Associated with Human MC1R Variations
MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.
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 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 Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
research Variations in anterior segment parameters among different phenotypes of polycystic ovary syndrome
PCOS may increase eye pressure and corneal thickness, affecting eye health.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Variations in alanine aminotransferase levels within the normal range predict metabolic and androgenic phenotypes in women of reproductive age
Normal-range ALT levels can indicate metabolic and hormonal imbalances in young women.
research Sexual Dimorphism in Micronutrient Homeostasis and Cluster Depletion Patterns in Type 2 Diabetes Mellitus Patients with Hair Loss: Development and Validation of a Phenotype-Based Risk Stratification Tool
A new tool helps tailor treatments for hair loss in Type 2 Diabetes patients by considering gender differences in nutrient levels.
research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Variation and Heritability in Hair Diameter and Curvature in an Australian Twin Sample
Hair diameter and curvature are mostly determined by genetics.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Genetic syndromes in paediatric alopecia areata: a systematic review
Many genetic syndromes are linked to alopecia areata in children, but most are rare and not fully understood.
research Phenotyping mice with skin, hair, or nail abnormalities: A systematic approach and methodologies from simple to complex
Understanding genetic variations in mice is crucial for studying skin, hair, or nail abnormalities.
research Phenotypic Correlation between Guard Hair and Down Hair in Chinese Alashan Left Banner White Cashmere Goat: A Preliminary Study
Guard hair length is positively correlated with guard hair diameter and down fiber length, but negatively correlated with variation in guard hair diameter and down fiber diameter.
research Association between IL16 gene polymorphisms and susceptibility to alopecia areata in the Korean population
IL16 gene variations may affect the risk of alopecia areata in Koreans.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study
PCOS phenotypes A and B are more common and linked to higher health risks in women from the Ecuadorian Andes.
research Hair phenotype diversity across Indriidae lemurs
Lemur hair color and density vary by environment, supporting theories on primate hair evolution.
research Clonal expansion from standing genetic variation underpins the evolution of an emerging plant pathogen in Australia
The plant pathogen in Australia evolves through existing genetic variation, not new genotypes.
research Unravelling the Genetics of Physical Appearance Variation in Modern Humans
Genetic variations influence human appearance, and understanding them can help in anthropology and forensics.
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 Prevalence, Phenotypes, and Comorbidities of Polycystic Ovary Syndrome Among Indian Women
PCOS is common among Indian women, often with metabolic issues, needing better management strategies.
research Phenotype of Normal Hairline Maturation
Children's hairlines change shape as they grow, with women often developing a widow's peak and men's hairlines becoming more convex and possibly balding at the temples, influenced by genetics and hormones.
research Phenotypic, transcriptomic, and genomic analyses reveal the spatiotemporal patterns and associated genes of coarse hair density in goats
The gene GJA1 is important for regulating coarse hair density in goats.
research Analysis of Copy Number Variation in the Whole Genome of Normal-Haired and Long-Haired Tianzhu White Yaks
CNVs influence hair length in Tianzhu white yaks.
research Comparative histomorphometric and transcriptomic analysis reveals potential genetic determinants of pelage variation between hairy and coarse-woolly sheep
Genetic differences in sheep affect wool type, with fat and immune genes influencing hair traits.
research Sequencing KRT71 as a candidate gene for hair shape variation in dromedary camels
KRT71 gene variants may influence camel hair shape but don't fully explain it.
research The crest phenotype in domestic chicken is caused by a 195 bp duplication in the intron of HOXC10
A 195 bp duplication in the HOXC10 gene causes crests in domestic chickens.