Change in rates of prenatal tests for chromosomal abnormality over a 12-year period in women of advanced maternal age. [PDF]
Obstet Gynecol Sci, 2018 Kim SM +6 more
europepmc +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra +5 more
wiley +1 more source
Case report: CD8 positive T-cell Prolymphocytic Leukemia presenting complex karyotype with a rare chromosomal abnormality der(2)t(1;2)(q21;q37) and additional signals of the genes MYC, IGH, and TP53. [PDF]
Hematol Transfus Cell TherJamur VR +3 more
europepmc +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9
Animal Models and Experimental Medicine, EarlyView.Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu +6 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Over one billion people worldwide suffer from obesity, and the number is continually rising. Animal models, especially mouse models, are crucial to identifying the genetic components of complex disorders and exploring the potential applications of these genetic findings.
Hanifa J. Abu‐Toamih Atamni +7 more
wiley +1 more source
Coexisting of bone marrow fibrosis, dysplasia and an X chromosomal abnormality in chronic neutrophilic leukemia with CSF3R mutation: a case report and literature review. [PDF]
BMC Cancer, 2018 Wu XB +5 more
europepmc +1 more source
Metabolic and biochemical profiling reveals phenotypic heterogeneity in Zucker diabetic fatty rats
Animal Models and Experimental Medicine, EarlyView.Genetically uniform Zucker Diabetic Fatty (ZDF) rats spontaneously develop four distinct metabolic phenotypes despite identical housing and diet conditions. Each phenotype exhibits unique biomarker signatures encompassing glucose homeostasis, insulin secretion, polyol pathway activation, oxidative stress, inflammatory cytokines, and neurotrophic ...
Marek Lepáček +3 more
wiley +1 more source
Molecular characterization of the A52 murine hepatocellular carcinoma cell line
Animal Models and Experimental Medicine, EarlyView.Hepatocellular carcinoma (HCC) is a poor outcome cancer with limited therapeutic choices. To advance therapeutic development we genetically characterized the A52 murine HCC cell line. We noted genetic changes that match a subset of human HCC and this offers the opportunity to test novel targeted therapies in syngeneic mice.
Rhys Gillman +5 more
wiley +1 more source
Equine models in translational medicine: A comparative approach to human health
Animal Models and Experimental Medicine, EarlyView.This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh +1 more
wiley +1 more source