With the introduction of systems theory to genetics, numerous opportunities for genomic research have been identified. Consequences of DNA sequence variations are systematically evaluated using the network- or pathway-based analysis, a technological basis of systems biology or, more precisely, systems genomics. Despite comprehensive descriptions of advantages offered by systems genomic approaches, pathway-based analysis is uncommon in cytogenetic (cytogenomic) studies, . genome analysis at the chromosomal level. Here, we would like to express our opinion that current cytogenomics benefits from the application of systems biology methodology. Accordingly, systems cytogenomics appears to be a biomedical area requiring more attention than it actually receives.
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http://dx.doi.org/10.2174/1389202922666210219112419 | DOI Listing |
Front Genet
December 2024
Bioinformatics Unit, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy.
Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549) resulting in a loss-of-function effect.
Methods: We enrolled a new IHPRF1 patients' cohort in the framework of an international multicentric collaboration study. Using specialized pathogenicity predictors and structural analyses, we assessed the mechanistic consequences of the deleterious variants retrieved on NALCN structure and function.
J Med Genet
December 2024
Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.
Background: Previous studies in mouse, and zebrafish embryos show strong expression in progenitor cells of neuronal and neural crest tissues suggesting its involvement in neural crest specification. However, the role of human transcription factor activator protein 2 ( in human embryonic central nervous system (CNS), orofacial and maxillofacial development is unknown.
Methods: Through a collaborative work, exome survey was performed in families with congenital CNS, orofacial and maxillofacial anomalies.
Cytogenet Genome Res
November 2024
Genes (Basel)
August 2024
Division of Molecular Genetics, Center for Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi 470-1192, Japan.
Cytogenet Genome Res
December 2024
Medical Genetics and Genomic Medicine, Department of Translational Medicine, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil.
Introduction: Williams-Beuren syndrome is a contiguous gene syndrome caused by microdeletion of the locus 7q11.23. It is a clinically recognizable condition whose cardinal features include growth deficiency, variable degrees of neurodevelopmental disorders, congenital cardiac defects, outgoing personality, and typical facies.
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