research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
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research Defects in mitochondrial DNA replication and oxidative damage in muscle of mtDNA mutator mice
Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Tabby pattern genetics – a whole new breed of cat
Two genes, Tabby and Ticked, determine cat coat patterns.
research Dermatological diseases from a genetic perspective
New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.
research SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome
Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
research Contrast enhanced phototrichogram (CE-PTG): an improved non-invasive technique for measurement of scalp hair dynamics in androgenetic alopecia–validation study with histology after transverse sectioning of scalp biopsies.
CE-PTG is a better method for analyzing hair growth in androgenetic alopecia.
research NUDT15,FTO, andRUNX1genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
research Genome-based analysis of the genetic pattern of black sheep in Qira sheep
Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.
research MYC Protooncogenes of Wool and Hair Growtha
MYC protooncogenes may be important for hair growth, but more research is needed.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Hyperandrogenism in polycystic ovarian syndrome and role of CYP gene variants: a review
Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.
research Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges like inconsistent terms and limited genetic knowledge.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research Telocytes: current methods of research, challenges and future perspectives
Telocytes have potential in therapy and tissue regeneration, but challenges in identification and cultivation remain.
research Forensic DNA Phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Inherited Disorders of the Hair
The study concluded that genetic mutations affect human hair diseases and identified key genes and pathways involved in hair growth and cycling.
research Genetic Fate Mapping Using Site-Specific Recombinases
The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
research Gene profile analysis of colorectal cancer cell lines by cDNA macroarray
Colorectal cancer's ability to spread is due to changes in many genes, not just one.
research In This Issue
Genetically repaired stem cells may treat certain genetic diseases, Th17 cells are key in fighting systemic fungal infections, hair loss in AGA is due to progenitor cell loss, and α-synuclein transfer might contribute to Parkinson's disease progression.
research Case-Only Trees and Random Forests for Exploring Genotype-Specific Treatment Effects in Randomized Clinical Trials with Dichotomous End Points
Case-only trees and random forests improve predictions of treatment effects in clinical trials.
research 9. Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide‐directed gene targeting
Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
research A mechanism-informed deep neural network enables prioritization of regulators that drive cell state transitions
A new neural network helps identify key regulators in cell changes, aiding in understanding diseases and finding new treatments.
research Biomedical applications of organoids in genetic diseases
Organoids help study and treat genetic diseases, offering personalized medicine and therapy testing.
research Analysis of the human diseasome using phenotype similarity between common, genetic and infectious diseases
The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.
research Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
Researchers found a non-functional sheep keratin gene due to mutations.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.