research Copy Number Variation Regions in Nellore Cattle: Evidence of Environmental Adaptation
Nellore cattle have genetic variations linked to their adaptation to tropical environments.
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research A 10 Mb Duplication in Chromosome Band 5q31.3–5q33.1 Associated with Late-Onset Lipodystrophy, Ichthyosis, Epilepsy, and Glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Genome Scan for Signatures of Adaptive Evolution in Wild African Goat (Capra Nubiana)
Wild African goats have genetic adaptations for surviving harsh desert conditions.
research Compilation of a Comprehensive Gene Panel for Systematic Assessment of Genes That Govern an Individual’s Drug Responses
Researchers found that most genes affecting drug responses are not fully covered by commercial SNP chips, suggesting the need for more comprehensive tools to optimize drug selection based on genetics.
research Congenital Generalized Hypertrichosis With a Copy Number Variation on Chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
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 Identification of Candidate Genes for Min Pig Villi Hair Traits by Genome-Wide Association of Copy Number Variation
Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
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 The Rotterdam Study: Objectives And Design Update
The Rotterdam Study investigates diseases in older adults and has produced many research findings.
research The Rotterdam Study: 2016 Objectives and Design Update
The Rotterdam Study found risk factors for elderly diseases, links between lifestyle and genetics with health conditions, and aimed to explore new areas like DNA methylation and sensory input effects on brain function.
research The Rotterdam Study: 2014 Objectives and Design Update
The Rotterdam Study aims to understand disease causes in the elderly and has found new risk factors and genetic influences on various conditions.
research The Rotterdam Study: 2012 Objectives and Design Update
The Rotterdam Study updated its design and objectives in 2012, providing insights into various diseases in the elderly, including skin cancer, bone health, liver disease, neurological and psychiatric conditions, and respiratory issues.
research The Rotterdam Study: 2010 Objectives and Design Update
The Rotterdam Study aims to understand various diseases in older adults.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Polycystic Ovary Syndrome (PCOS): An Inflammatory, Systemic, Lifestyle Endocrinopathy
PCOS is a complex condition in women that can lead to health issues, and lifestyle changes are the best management approach.
research Emerging Roles of Sox6 in the Renal and Cardiovascular Systems
Sox6 is important in heart and kidney health, affecting diseases like diabetes, heart disease, and high blood pressure.
research Selection Signatures for Fiber Production in Commercial Species: A Review
Genomic research can help improve the quality and production of natural fibers in animals.
research SLE and Serum Complement: Causative, Concomitant or Coincidental?
Low serum complement levels in SLE patients don't always match with disease flares; monitoring C3 and C4 is useful, but cell-bound complement products might better indicate disease activity.
research Cleave But Not Leave: Astrotactin Proteins in Development and Disease
Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
research Selection Signatures in Goats Reveal a Novel Deletion Mutant Underlying Cashmere Yield and Diameter
A specific genetic deletion in goats affects cashmere yield and thickness.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Familial 1q22 Microduplication Associated With Psychiatric Disorders, Intellectual Disability, and Late-Onset Autoimmune Inflammatory Response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
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 Abstracts From The 55th European Society Of Human Genetics 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 The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Multi-Ancestry Tandem Repeat Association Study of Hair Color Using Exome-Wide Sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.