research Epigenetics of Colorectal Cancer
Colorectal cancer development involves both genetic changes and epigenetic alterations like DNA methylation and microRNA changes.
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research Atypical Progeroid Syndrome Due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research The Genetics of Androgenetic Alopecia
Genes and hormones cause hair loss, with four genes contributing equally.
research A Powerful Method for Pleiotropic Analysis Under Composite Null Hypothesis Identifies Novel Shared Loci Between Type 2 Diabetes and Prostate Cancer
New method finds genetic links between Type 2 Diabetes and Prostate Cancer not seen before.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research A Conditional Multi-Trait Sequence GWAS Discovers Pleiotropic Candidate Genes and Variants for Sheep Wool, Skin Wrinkle, and Breech Cover Traits
Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.
research Drivers of Plateau Adaptability in Cashmere Goats Revealed by Genomic and Transcriptomic Analyses
The study found that genetic differences related to hair growth and other traits help cashmere goats adapt to high-altitude environments.
research Safety of Whole-Body Abrogation of the TRF1 Shelterin Protein in Wild-Type and Cancer-Prone Mouse Models
Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.
research A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Genetics of Hidradenitis Suppurativa
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research Non-Invasive Diagnosis of Prostate Cancer from Body Fluids Using a Panel of Tumor Suppressor Genes
Blood tests for tumor cells could improve prostate cancer diagnosis and treatment; hair loss severity linked to a gene affecting prostate conditions.
research Detection of Circulating Prostate Cancer Cells by Means of an Antibody-Conjugated Nanoparticulate Biosensor
The document concludes that a new biosensor can efficiently detect prostate cancer cells and that standardized referrals help find significant cancers effectively.
research The Potential of Circulating Endothelial Cells as Prognostic Biomarkers in Prostate Cancer
CEC levels may be a useful marker for predicting prostate cancer progression.
research Epidemiology of Vitiligo, Associated Autoimmune Diseases, and Audiological Abnormalities: Ankara Study of 80 Patients in Turkey
Vitiligo is linked to autoimmune diseases and hearing issues, so hearing tests are recommended for patients.
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 From Gene to Therapy in Spinal and Bulbar Muscular Atrophy: Are We There Yet?
Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research Finding Bald Spots on Chromosome 20p11
New genes linked to male pattern baldness were found on chromosome 20p11.
research 46,XY Disorders of Sex Development Due to Type 2 5-Alpha Reductase Deficiency in Three Siblings: A Case Report from a Low-Resource Setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Red Blood Cell Folate Level in Patients with Alopecia Areata
Red blood cell folate levels are reliable indicators of long-term folate status in alopecia areata patients.
research Becker Nevus of the Face with Asymmetrical Growth of Beard Hair
Certain gene variations may increase the risk of alopecia, and platelet-rich plasma treatment can improve hair density in those with hair loss; a rare case of facial Becker's nevus was linked to uneven beard growth.
research Female Androgenetic Alopecia
Female pattern hair loss is different from male pattern hair loss and has unclear genetic causes.
research Male Androgenetic Alopecia
Hair loss in men treated best with early medication or transplant, new treatments researched.
research Autoimmune Disease Induction in a Healthy Human Organ: A Humanized Mouse Model of Alopecia Areata
Alopecia areata can be triggered by specific immune cells without genetic or environmental factors.
research Primary Follicular Dystrophy With Scarring Dermatitis in C57BL/6 Mouse Substrains Resembles Central Centrifugal Cicatricial Alopecia in Humans
Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
research Integrative Analysis of Rare Copy Number Variants and Gene Expression Data in Alopecia Areata Implicates an Etiological Role for Autophagy
The research suggests that autophagy-related genes might play a role in causing alopecia areata.
research Molecular Regulatory Mechanisms in Chicken Feather Follicle Morphogenesis
The document concludes that various signaling pathways and genetic factors are crucial for chicken feather development, affecting poultry quality.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype With Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
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.