research High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
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120-150 / 1000+ resultsresearch Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
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 Integrative analysis of Iso-Seq and RNA-seq data reveals transcriptome complexity and differential isoform in skin tissues of different hair length Yak
Different genes affect hair length in yaks.
research Genetic Insights into Acne, Androgenetic Alopecia, and Alopecia Areata: Implications for Mechanisms and Precision Dermatology
Genetic insights can lead to personalized treatments for acne, androgenetic alopecia, and alopecia areata.
research Fundamental hair follicle biology and fine fibre production in animals
Hair follicle growth and fiber production in animals are influenced by chemical signals, proteins, pigmentation, genetics, and nutrients.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Rare and common genetic determinants of metabolic individuality and their effects on human health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
research Sexual steroid regulation of spermatogenesis: new actors enter the stage
Estrogens and androgens are crucial for male fertility.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Most frequent dermatosis in patients with kidney transplantation
Kidney transplant patients often have skin issues, mainly infections.
research The Rho GTPase exchange factor Vav2 promotes extensive age-dependent rewiring of the hair follicle stem cell transcriptome
Vav2 changes how hair follicle stem cells' genes work as they age, which might improve regeneration but also raise cancer risk.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Transcriptomic regulation of seasonal coat color change in hares
Genes related to pigmentation, body rhythms, and behavior change during hares' seasonal coat color transition, with a common genetic mechanism in two hare species.
research Molecular epidemiology of hypospadias: Review of genetic and environmental risk factors
Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
research Receipt of 5-Alpha Reductase Inhibitors Before Radical Cystectomy: Do They Render High-Grade Bladder Tumors Less Aggressive?
Taking 5-Alpha Reductase Inhibitors before bladder removal surgery might make high-grade bladder tumors less aggressive.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research The role of AUTS2 in neurodevelopment and human evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
research Cutaneous wound healing: recruiting developmental pathways for regeneration
Understanding developmental pathways can improve wound healing treatments.
research Whole-genome sequencing of eight goat populations for the detection of selection signatures underlying production and adaptive traits
Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.
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 Finasteride for female androgenetic alopecia
Finasteride increases hair density in female androgenetic alopecia, but individual results may vary.
research Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris
New genetic factors linked to acne risk were discovered, highlighting the role of certain pathways and genes.
research What does acne genetics teach us about disease pathogenesis?
Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
research Ancient Genomes Reveal the Evolutionary History and Origin of Cashmere-Producing Goats in China
Ancient Chinese goats evolved cashmere-producing traits due to selective breeding, particularly in genes affecting hair growth.
research Genetic basis of polycystic ovary syndrome
The document concludes that PCOS has a strong genetic component, but more research is needed to fully understand the specific genes involved.
research A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research Ottawa, Ontario, Canada, February 13–16, 2013
The document concludes that various findings in rheumatology offer insights into disease severity, treatment responses, and potential risks in medication, with some limitations due to unspecified participant numbers.