research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
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60-90 / 1000+ resultsresearch Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research De NovoTranscriptome Assembly and Differential Gene Expression Profiling of ThreeCapra hircusSkin Types during Anagen of the Hair Growth Cycle
The study identified key genes involved in goat hair growth.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Adli Uygulamalarda Yeni Nesil Dizileme Teknolojilerinin Yeri ve Önemi
Next-Generation Sequencing improves forensic analysis by providing detailed genetic information quickly.
research Pan-cancer analysis of microRNA expression profiles highlights microRNAs enriched in normal body cells as effective suppressors of multiple tumor types: A study based on TCGA database
Certain microRNAs found in normal cells can effectively suppress various cancers.
research The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research The Circular RNA CircCOL1A1 Functions as a miR-149-5p Sponge to Regulate the Formation of Superior-Quality Brush Hair via the CMTM3/AR Axis
A specific RNA molecule, circCOL1A1, affects the growth and quality of goat hair by interacting with miR-149-5p and influencing cell growth pathways.
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 Comparative Transcriptome Analysis Reveals that a Ubiquitin-Mediated Proteolysis Pathway Is Important for Primary and Secondary Hair Follicle Development in Cashmere Goats
The ubiquitin-mediated proteolysis pathway is crucial for hair follicle development in cashmere goats.
research Integrated-omics profiling unveils the disparities of host defense to ECM scaffolds during wound healing in aged individuals
Aged individuals heal wounds less effectively due to specific immune cell issues.
research Recent advances in the genetics of alopecia areata
New research has found 14 genes linked to the risk of developing alopecia areata, improving understanding and treatment options.
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 Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
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 Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research MULTIOMICS – A NEW EXCITING ERA OF RESEARCH
Multiomics is revolutionizing biology by enabling breakthroughs in research and disease diagnosis.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case
Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
research Quantitative Single-Cell Approaches to Stem Cell Research
New single-cell analysis techniques are improving our understanding of stem cells and could help in treating diseases.
research Impacto del desequilibrio del microbioma del cuero cabelludo en la severidad de la alopecia areata, marcadores inflamatorios y cambios post-tratamiento
An imbalanced scalp microbiome may worsen alopecia areata severity and inflammation, but treatment can partially restore balance.
research Cell Types Promoting Goosebumps Form a Niche to Regulate Hair Follicle Stem Cells
Muscles and nerves that cause goosebumps also help control hair growth.
research Application of multi-omics techniques to androgenetic alopecia: Current status and perspectives
Multi-omics techniques help understand the molecular causes of androgenetic alopecia.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Comparative genome analyses reveal the unique genetic composition and selection signals underlying the phenotypic characteristics of three Chinese domestic goat breeds
Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
research Advances in single-cell transcriptomics in animal research
Single-cell transcriptomics helps improve animal health and productivity by studying gene expression in individual cells.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Past, Present and Future Perspectives of Forensic Genetics
Forensic genetics can now predict physical traits and lifestyle habits, with future advancements expected from new technologies.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.