Search Results - "Epstein CJ"

Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome models.

Authors: Ahumada Saavedra, José Tomás Chevalier, Claire Bloch Zupan, Agnes et al.

Source: PLoS Genetics. 9/22/2025, Vol. 21 Issue 9, p1-23. 23p.

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Identification of a de novo MYH9 mutation in a Chinese family with MYH9-related disease.

Authors: Cai, Ruimin Bai, Shiyu Liu, Yanjun et al.

Source: Hematology. Dec2025, Vol. 30 Issue 1, p1-8. 8p.

Partial Trisomy of Chromosome 9 Inherited by Adjacent Segregation 2 of a Balanced Reciprocal Translocation in the Mother: Rare Mechanism in Chromosomal Abnormalities.

Authors: Zerrouki, K Aouni, F E Smaili, F et al.

Source: Balkan Journal of Medical Genetics. Jun2025, Vol. 28 Issue 1, p1-4. 4p.

Exploring A Decade of Research on Down Syndrome: A Bibliometric Analysis.

Authors: George, Rinu J. L., Manoj Kumar Unnikrishnan, Deepa T. et al.

Source: National Journal of Community Medicine. Apr2024, Vol. 15 Issue 4, p259-267. 9p.

Mitochondrial dysfunction as the "mother" of all hallmarks of aging.

Authors: Weissig, Volkmar¹ (AUTHOR) vweiss@midwestern.edu

Source: Journal of Mitochondria, Plastids & Endosymbiosis. Dec2025, Vol. 3 Issue 1, p1-20. 20p.

CLIP2: a novel functional player in AQP5 trafficking dynamics and implications for Sjögren's disease.

Authors: D'Agostino, Claudia Filipovic, Nikola Zindy, Egor et al.

Source: Cell Communication & Signaling. 11/3/2025, Vol. 23 Issue 1, p1-25. 25p.

Sex-biased transcriptome in in vitro produced bovine early embryos.

Authors: Shi, Meihong Li, Guangsheng Araujo, Hannah Marie et al.

Source: Cell & Bioscience. 8/27/2025, Vol. 15 Issue 1, p1-24. 24p.

Advancements of aquaporin 1 in ultrafiltration failure secondary to peritoneal dialysis.

Authors: Jiang, Tianxin Liu, Jiahan Shi, Yuanyuan et al.

Source: Pediatric Nephrology. Jun2025, Vol. 40 Issue 6, p1863-1869. 7p.

Nano-based approaches for the treatment of neuro-immunological disorders: a special emphasis on multiple sclerosis.

Authors: Panghal, Archna Flora, S. J. S.

Source: Discover Nano; 10/28/2024, Vol. 19 Issue 1, p1-20, 20p

Harnessing intracellular bacteria in bladder by intravesical delivery of antibiotics-loaded nanodiamonds to reduce the recurrence of urinary tract infection.

Authors: Law, Carmen Oi Kwan Leung, Hoi Man Wang, Meijun et al.

Source: Journal of Nanobiotechnology. 5/21/2025, Vol. 23 Issue 1, p1-16. 16p.

Multisensory gamma stimulation enhances adult neurogenesis and improves cognitive function in male mice with Down Syndrome.

Authors: Islam, Md Rezaul Jackson, Brennan Naomi, Maeesha Tasnim et al.

Source: PLoS ONE. 4/24/2025, Vol. 20 Issue 4, p1-23. 23p.

Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD.

Authors: Lob, Karen Sawka, Danielle M. Gaitanis, John N. et al.

Source: Journal of Autism & Developmental Disorders. Dec2025, Vol. 55 Issue 12, p4324-4336. 13p.

Subjects: Genetics of epilepsy, Genetics of autism, Age of onset, Data analysis, Research funding, Fisher exact test, Retrospective studies, Age distribution, Magnetic resonance imaging, Mann Whitney U Test, Chi-squared test, Descriptive statistics, Developmental disabilities, Odds ratio, Epilepsy, Medical records, Acquisition of data, Statistics, Asperger's syndrome, Data analysis software, Confidence intervals, Phenotypes, Genetic testing, Genotypes, Sequence analysis, Drug resistance, Comorbidity

Xanthoxyline prevents aging and neuronal damage by activating autophagy and DAF-16 expression in Caenorhabditis elegans.

Authors: Kim, Hyemin Lee, Saebyeol Kim, Hak Kyun et al.

Source: Animal Cells & Systems. Dec2025, Vol. 29 Issue 1, p544-555. 12p.

Karnozin EXTRA® causes changes in mitochondrial bioenergetics response in MCF-7 and MRC-5 cell lines.

Authors: Popović, Aleksandra Drljača Lero, Jovana Miljković, Dejan et al.

Source: Biotechnic & Histochemistry. Feb2025, Vol. 100 Issue 2, p50-62. 13p.

Instrumental neutron activation analysis of Ghanaian hot pepper (Capsicum spp. l.) collections.

Authors: Doku, Stella K. Quartey, Emmanuel K. Amiteye, Samuel et al.

Source: Journal of Radioanalytical & Nuclear Chemistry. Dec2024, Vol. 333 Issue 12, p6441-6448. 8p.

Gene expression bias between the subgenomes of allopolyploid hybrids is an emergent property of the kinetics of expression.

Authors: An, Hong Pires, J. Chris Conant, Gavin C.

Source: PLoS Computational Biology. 1/16/2024, Vol. 20 Issue 1, p1-22. 22p.

Melatonin increases superoxide dismutase 2 (SOD2) levels and improves rat ovarian graft function after transplantation.

Authors: Monteiro, Karla Krislane Alves Costa Damous, Luciana Lamarão Shiroma, Marcos Eiji et al.

Source: Journal of Ovarian Research. 10/16/2024, Vol. 17 Issue 1, p1-13. 13p.

Impaired BDNF-TrkB trafficking and signalling in Down syndrome basal forebrain neurons.

Authors: Blackburn E Birsa N Lopes AT et al.

Source: Cell death & disease [Cell Death Dis] 2026 Feb 11; Vol. 17 (1), pp. 214. Date of Electronic Publication: 2026 Feb 11.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101524092 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-4889 (Electronic) NLM ISO Abbreviation: Cell Death Dis Subsets: MEDLINE

Advances in gene therapy for Lafora disease: Intravenous recombinant adeno‐associated virus‐mediated delivery of EPM2A and EPM2B genes.

Authors: Zafra‐Puerta, Luis Iglesias‐Cabeza, Nerea Sciaccaluga, Miriam et al.

Source: Clinical & Translational Medicine. Nov2025, Vol. 15 Issue 11, p1-25. 25p.