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

Lack of association between IL-10 -1082G/A polymorphism and chronic periodontal disease in adults

Autor: da Cruz Ad, Lysa Bernardes Minasi, Thaís Cidália Vieira, Hannum R, Fernanda Ribeiro Godoy, da Silva Cc, da Cruz As, de M E Silva D

Publikováno v: Genetics and molecular research : GMR. 14(4)

Because of the complex interaction between periodontal pathogens and the host defense system, periodontitis is considered an inflammatory disorder of bacterial etiology that results in periodontal tissue damage. Genetic mechanisms may interfere with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74f3e63c3680caeb930cc00bca65a93a
https://pubmed.ncbi.nlm.nih.gov/26782428

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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).