research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
Search
for
Sort by
Research
180-210 / 1000+ results 
research P63 targeted deletion under the FOXN1 promoter disrupts pre-and post-natal thymus development, function and maintenance as well as induces severe hair loss
Deleting the p63 gene in certain cells causes problems in thymus development and severe hair loss in mice.
research Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
research Testicular Steroidogenesis
Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
research Integrated single-cell chromatin and transcriptomic analyses of peripheral immune cells in patients with alopecia areata
Early intervention with JAK inhibitors may prevent alopecia areata progression.
research Differences in cell subsets between sun-exposed and unexposed skin: preliminary single-cell sequencing and biological analysis from a single case
Sun-exposed skin shows different cell activity and gene expression, suggesting targets to prevent skin aging and cancer.
research Expression profile of long non-coding RNA in inner Mongolian cashmere goat with putative roles in hair follicles development
Certain long non-coding RNAs are important for the growth of hair follicles in Inner Mongolian cashmere goats.
research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
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 ESGCT and FSGT Collaborative Congress Helsinki, Finland September 17–20, 2015 Abstracts
The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
research Letters to Dermatology
Stopping forehead irritation and using hydrocortisone helped a man's skin, Martinique has lower melanoma rates, a man had an allergy to a specific antifungal, another had unexplained cysts, certain drugs can cause skin reactions without always being interrelated, a link between Fanconi anemia and a skin condition was suggested, high levels of a certain protein may play a role in a type of psoriasis, and there's a need to study the connection between scalp pain and hair loss.
research A symphony of signals: the intricate role of lncRNAs in dermatological disorders
lncRNAs are important for understanding and treating skin diseases.
research γδ17 T cell-stromal networks modulate matrix composition and vascularity in foreign body response
γδ T cells help control tissue scarring and blood vessel growth in response to foreign objects.
research Ozone and procaine increase secretion of platelet-derived factors in platelet-rich plasma
Ozone and procaine boost the release of healing factors in platelet-rich plasma.
research Analysis of genome DNA methylation at inherited coat-color dilutions of Rex Rabbits
Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.
research Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Shushing down the epigenetic landscape towards stem cell differentiation
The document concludes that pig iPSCs show promise for transplant therapies and the field is advancing in controlling cell behavior for biology and medicine.
research Generalised Glucocorticoid Resistance
Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.
research Hair Aging Revisited: An Expert Delphi Consensus on Pathogenesis, Clinical Features, and Future Therapies
Experts agree on understanding hair aging to improve diagnosis and treatments.
research Targeting ferroptosis in photoaging: mechanisms and therapeutic potential of adipose-derived stem cell exosomes
Adipose-derived stem cell exosomes can help reduce skin aging from UV exposure.
research Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
research Genotypes of Single-nucleotide polymorphisms on DENND1A in an association with polycystic ovary syndrome among Saudi Arabian females
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
research The 46th Annual Meeting of the Irish Endocrine Society Meeting Programme and Abstracts 2022
Electrical stimulation with a low-calorie diet reduces appetite, weight, and blood pressure in obese people with sleep apnea.
research The relationship between keratin 18 and epithelial-derived tumors: as a diagnostic marker, prognostic marker, and its role in tumorigenesis
Keratin 18 helps diagnose and predict cancer progression and affects cancer growth and spread.
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 Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
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 Androgen excess: a hallmark of polycystic ovary syndrome
Excess androgens may cause PCOS, not just be a symptom.
research FROM PATHOPHYSIOLOGY TO POTENTIAL INTERVENTIONS: INVESTIGATING THE INTRICATE DYNAMICS OF POLYCYSTIC OVARY SYNDROME, AGING, AND FERTILITY
PCOS, aging, and fertility are linked by hormonal and metabolic issues, with lifestyle changes and treatments offering potential help.