A dynamic in vitro model of Down syndrome neurogenesis with trisomy 21 gene dosage correction.

Autor: Bansal P; Graduate Program in Genetics and Developmental Biology, UCONN Health, University of Connecticut, Farmington, CT, USA.; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA., Banda EC; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA., Glatt-Deeley HR; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA., Stoddard CE; Cell and Genome Engineering Core, UCONN Health, University of Connecticut, Farmington, CT, USA., Linsley JW; Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, CA, USA.; Taube/Koret Center for Neurodegenerative Disease, Gladstone Institutes, San Francisco, CA, USA., Arora N; Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, CA, USA., Deleschaux C; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA., Ahern DT; Graduate Program in Genetics and Developmental Biology, UCONN Health, University of Connecticut, Farmington, CT, USA.; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA., Kondaveeti Y; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA., Massey RE; Graduate Program in Genetics and Developmental Biology, UCONN Health, University of Connecticut, Farmington, CT, USA.; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA.; Institute for Systems Genomics, University of Connecticut, Farmington, CT, USA., Nicouleau M; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA., Wang S; Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, CA, USA., Sabariego-Navarro M; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain., Dierssen M; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Human Pharmacology and Clinical Neurosciences Research Group, Neurosciences Research Program, Hospital Del Mar Medical Research Institute (IMIM), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Finkbeiner S; Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, CA, USA.; Taube/Koret Center for Neurodegenerative Disease, Gladstone Institutes, San Francisco, CA, USA.; Departments of Neurology and Physiology, University of California San Francisco, San Francisco, CA, USA.; Neuroscience and Biomedical Sciences Graduate Programs, University of California San Francisco, San Francisco, CA, USA., Pinter SF; Graduate Program in Genetics and Developmental Biology, UCONN Health, University of Connecticut, Farmington, CT, USA.; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA.; Institute for Systems Genomics, University of Connecticut, Farmington, CT, USA.

Publikováno v: Science advances [Sci Adv] 2024 Jun 07; Vol. 10 (23), pp. eadj0385. Date of Electronic Publication: 2024 Jun 07.

Monosomy X in isogenic human iPSC-derived trophoblast model impacts expression modules preserved in human placenta.

Autor: Ahern DT; Graduate Program in Genetics and Developmental Biology, UCONN Health, University of Connecticut, Farmington, CT 06030.; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT 06030., Bansal P; Graduate Program in Genetics and Developmental Biology, UCONN Health, University of Connecticut, Farmington, CT 06030.; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT 06030., Armillei MK; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT 06030., Faustino IV; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT 06030., Kondaveeti Y; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT 06030., Glatt-Deeley HR; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT 06030., Banda EC; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT 06030., Pinter SF; Graduate Program in Genetics and Developmental Biology, UCONN Health, University of Connecticut, Farmington, CT 06030.; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT 06030.; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06269.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2022 Oct 04; Vol. 119 (40), pp. e2211073119. Date of Electronic Publication: 2022 Sep 26.

Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons.

Autor: Langouët M; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA., Gorka D; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA., Orniacki C; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA., Dupont-Thibert CM; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA., Chung MS; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA., Glatt-Deeley HR; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA., Germain N; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA., Crandall LJ; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA., Cotney JL; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA.; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06030, USA., Stoddard CE; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA., Lalande M; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA.; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06030, USA., Chamberlain SJ; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA.; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06030, USA.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2020 Nov 25; Vol. 29 (19), pp. 3285-3295.

Promising therapeutic aspects in human genetic imprinting disorders.

Autor: Chao, Yunqi¹ (AUTHOR), Qin, Yifang¹ (AUTHOR), Zou, Xinyi² (AUTHOR), Wang, Xiangzhi¹ (AUTHOR), Hu, Chenxi¹ (AUTHOR), Xia, Fangling¹ (AUTHOR), Zou, Chaochun¹ (AUTHOR) zcc14@zju.edu.cn

Publikováno v: Clinical Epigenetics. 11/12/2022, Vol. 14 Issue 1, p1-19. 19p.

Phylogenetic and Molecular Analyses Identify SNORD116 Targets Involved in the Prader–Willi Syndrome.

Autor: Baldini, Laeya, Robert, Anne, Charpentier, Bruno, Labialle, Stéphane

Publikováno v: Molecular Biology & Evolution; Jan2022, Vol. 39 Issue 1, p1-14, 14p