c.1103T>C (p.Ile368Th) de novo Variant in Synaptotagmin 1 (SYT1) Gene is Pathogenic, Leading to an Ultra-Rare Neurodevelopmental Disorder: The Baker-Gordon Syndrome

Autor: Porto MB, Castro GDME, Pereira SSS, Uchoa EMGS, Zatarin R, Minasi LB, da Cruz AD

Publikováno v: International Medical Case Reports Journal, Vol Volume 17, Pp 63-70 (2024)

Milena Barbosa Porto,1 Geovanna da Mata e Castro,1 Samara Socorro Silva Pereira,2 Elza Maria Gonçalves Santos Uchoa,2 Raffael Zatarin,3 Lysa Bernardes Minasi,1 Aparecido D da Cruz1– 3 1Graduate Program in Genetics, School of Medical and Life Scien

Externí odkaz: https://doaj.org/article/2915fa69a4d84a729f58875ced0fb0ec

A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.

Autor: Ben-Mahmoud A; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Jun KR; Department of Laboratory Medicine, Inje University Haeundae Paik Hospital, Busan, South Korea., Gupta V; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Shastri P; Department of Cardiovascular Medicine, Cape Fear Valley Medical Center, Fayetteville, NC, United States., de la Fuente A; Diabetes Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Park Y; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Shin KC; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Kim CA; Faculdade de Medicina, Unidade de Genética do Instituto da Criança - Hospital das Clínicas HCFMUSP, Universidade de São Paulo, São Paulo, Brazil., da Cruz AD; School of Medical and Life Sciences, Genetics Master Program, Replicon Research Group, Pontifical Catholic University of Goiás, Goiânia, Brazil.; Genetics Master Program, Replicon Research Nucleus, School of Agrarian and Biological Sciences, Pontifical Catholic University of Goias, Goiás, Brazil., Pinto IP; School of Medical and Life Sciences, Genetics Master Program, Replicon Research Group, Pontifical Catholic University of Goiás, Goiânia, Brazil.; Genetics Master Program, Replicon Research Nucleus, School of Agrarian and Biological Sciences, Pontifical Catholic University of Goias, Goiás, Brazil., Minasi LB; School of Medical and Life Sciences, Genetics Master Program, Replicon Research Group, Pontifical Catholic University of Goiás, Goiânia, Brazil.; Genetics Master Program, Replicon Research Nucleus, School of Agrarian and Biological Sciences, Pontifical Catholic University of Goias, Goiás, Brazil., Silva da Cruz A; School of Medical and Life Sciences, Genetics Master Program, Replicon Research Group, Pontifical Catholic University of Goiás, Goiânia, Brazil.; Genetics Master Program, Replicon Research Nucleus, School of Agrarian and Biological Sciences, Pontifical Catholic University of Goias, Goiás, Brazil., Faivre L; Inserm UMR 1231 GAD, Genetics of Developmental Disorders, Université de Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon, France., Callier P; UMR 1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Racine C; UMR 1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Layman LC; Section of Reproductive Endocrinology, Infertility and Genetics, Department of Obstetrics and Gynecology, Augusta University, Augusta, GA, United States.; Department of Neuroscience and Regenerative Medicine, Augusta University, Augusta, GA, United States., Kong IK; Department of Animal Science, Division of Applied Life Science (BK21 Four), Gyeongsang National University, Jinju, South Korea., Kim CH; Department of Biology, Chungnam National University, Daejeon, South Korea., Kim WY; Department of Biological Sciences, Kent State University, Kent, OH, United States., Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.

Publikováno v: Frontiers in molecular neuroscience [Front Mol Neurosci] 2022 Oct 06; Vol. 15, pp. 979061. Date of Electronic Publication: 2022 Oct 06 (Print Publication: 2022).

The Use of Subepithelial Connective Tissue Graft Technique to the Treatment of Class I Miller Recession in Lower Tooth with Abrasion: Case Report

Autor: Nathale Cruz Batista, Portero Pp, Gabriela Alessandra da Cruz Galhardo Camargo, da Cruz Ad, de Souza Bbt, Poiate Iavp, Santos Fa

Publikováno v: JBR Journal of Interdisciplinary Medicine and Dental Science.

Gingival recession can cause aesthetic problems, discomfort for cervical dentin hypersensitivity and can be treated by connective tissue grafts. This case report used subepithelial connective tissue graft to treatment class I Miller recession in prem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ca867fc318db892e4204a78beae5cb54
https://doi.org/10.4172/2376-032x.1000218

Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes.

Autor: Ribeiro CL; Genetics Master's Program, Replicon Research Group, Department of Agricultural and Biological Sciences, Pontifical Catholic University of Goiás, Rua 235, n. 40, Bloco L, Área IV-S. Universitario, Setor Leste Universitario, Goiânia, GO, CEP 74605-050, Brazil. cristianoluiz@pucgoias.edu.br.; Biotechnology and Biodiversity PhD Program, Federal University of Goiás, Goiânia, GO, Brazil. cristianoluiz@pucgoias.edu.br., Pinto IP; Genetics Master's Program, Replicon Research Group, Department of Agricultural and Biological Sciences, Pontifical Catholic University of Goiás, Rua 235, n. 40, Bloco L, Área IV-S. Universitario, Setor Leste Universitario, Goiânia, GO, CEP 74605-050, Brazil.; Biotechnology and Biodiversity PhD Program, Federal University of Goiás, Goiânia, GO, Brazil., Pereira SSS; Genetics Master's Program, Replicon Research Group, Department of Agricultural and Biological Sciences, Pontifical Catholic University of Goiás, Rua 235, n. 40, Bloco L, Área IV-S. Universitario, Setor Leste Universitario, Goiânia, GO, CEP 74605-050, Brazil., Minasi LB; Genetics Master's Program, Replicon Research Group, Department of Agricultural and Biological Sciences, Pontifical Catholic University of Goiás, Rua 235, n. 40, Bloco L, Área IV-S. Universitario, Setor Leste Universitario, Goiânia, GO, CEP 74605-050, Brazil., de S M Kluthcouski F; Department of Hematology, Clinics Hospital, Federal University of Goiás, Goiânia, GO, Brazil., de M Arantes A; Hospital Araújo Jorge-Cancer Combat Association of Goiás, Goiânia, GO, Brazil., da Cruz AD; Genetics Master's Program, Replicon Research Group, Department of Agricultural and Biological Sciences, Pontifical Catholic University of Goiás, Rua 235, n. 40, Bloco L, Área IV-S. Universitario, Setor Leste Universitario, Goiânia, GO, CEP 74605-050, Brazil.; Human Cytogenetics and Molecular Genetics Laboratory, Health Secretary of Goiás State, Goiânia, GO, Brazil.; Biotechnology and Biodiversity PhD Program, Federal University of Goiás, Goiânia, GO, Brazil., de Almeida MAA; Department of Human Genetics, School of Medicine, STDOI-South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville, TX, USA., Howard TE; Department of Human Genetics, School of Medicine, STDOI-South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville, TX, USA., da Silva CC; Genetics Master's Program, Replicon Research Group, Department of Agricultural and Biological Sciences, Pontifical Catholic University of Goiás, Rua 235, n. 40, Bloco L, Área IV-S. Universitario, Setor Leste Universitario, Goiânia, GO, CEP 74605-050, Brazil.; Human Cytogenetics and Molecular Genetics Laboratory, Health Secretary of Goiás State, Goiânia, GO, Brazil.; Biotechnology and Biodiversity PhD Program, Federal University of Goiás, Goiânia, GO, Brazil.

Publikováno v: Scientific reports [Sci Rep] 2021 Feb 02; Vol. 11 (1), pp. 2783. Date of Electronic Publication: 2021 Feb 02.

Deviation from Mendelian transmission of autosomal SNPs can be used to estimate germline mutations in humans exposed to ionizing radiation.

Autor: Leite Filho HP; Programa de Pós-Graduação em Biotecnologia e Biodiversidade, Universidade Federal de Goiás, Goiânia, Goiás, Brazil.; Universidade Estadual de Goiás, Anápolis, Goiás, Brazil., Pinto IP; Núcleo de Pesquisa Replicon, Mestrado em Genética, Escola de Ciências Agrárias e Biológicas, Pontíficia Universidade Católica de Goiás, Goiânia, Goiás, Brazil., Oliveira LG; Núcleo de Pesquisa Replicon, Mestrado em Genética, Escola de Ciências Agrárias e Biológicas, Pontíficia Universidade Católica de Goiás, Goiânia, Goiás, Brazil.; Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal de Goiás, Goiânia, Goiás, Brazil., Costa EOA; Núcleo de Pesquisa Replicon, Mestrado em Genética, Escola de Ciências Agrárias e Biológicas, Pontíficia Universidade Católica de Goiás, Goiânia, Goiás, Brazil., da Cruz AS; Núcleo de Pesquisa Replicon, Mestrado em Genética, Escola de Ciências Agrárias e Biológicas, Pontíficia Universidade Católica de Goiás, Goiânia, Goiás, Brazil., E Silva DM; Núcleo de Pesquisa Replicon, Mestrado em Genética, Escola de Ciências Agrárias e Biológicas, Pontíficia Universidade Católica de Goiás, Goiânia, Goiás, Brazil.; Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal de Goiás, Goiânia, Goiás, Brazil., da Silva CC; Programa de Pós-Graduação em Biotecnologia e Biodiversidade, Universidade Federal de Goiás, Goiânia, Goiás, Brazil.; Universidade Estadual de Goiás, Anápolis, Goiás, Brazil.; Núcleo de Pesquisa Replicon, Mestrado em Genética, Escola de Ciências Agrárias e Biológicas, Pontíficia Universidade Católica de Goiás, Goiânia, Goiás, Brazil.; Laboratório de Genética Molecular e Citogenética Humana, Laboratório Estadual de Saúde Pública Dr. Giovanni Cysneiros, Secretaria de Saúde Pública do Estado de Goiás, Goiânia, Goiás, Brazil., Caetano AR; Embrapa Recursos Genéticos e Biotecnologia, Brasília, Distrito Federal, Brazil., da Cruz AD; Programa de Pós-Graduação em Biotecnologia e Biodiversidade, Universidade Federal de Goiás, Goiânia, Goiás, Brazil.; Núcleo de Pesquisa Replicon, Mestrado em Genética, Escola de Ciências Agrárias e Biológicas, Pontíficia Universidade Católica de Goiás, Goiânia, Goiás, Brazil.; Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal de Goiás, Goiânia, Goiás, Brazil.; Laboratório de Genética Molecular e Citogenética Humana, Laboratório Estadual de Saúde Pública Dr. Giovanni Cysneiros, Secretaria de Saúde Pública do Estado de Goiás, Goiânia, Goiás, Brazil.

Publikováno v: PloS one [PLoS One] 2020 Oct 27; Vol. 15 (10), pp. e0233941. Date of Electronic Publication: 2020 Oct 27 (Print Publication: 2020).