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Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene
The haploinsufficiency of the methyl-binding domain protein 5 (MBD5) gene has been identified as the determinant cause of the neuropsychiatric disorders grouped under the name MBD5-neurodevelopment disorders (MAND). MAND ...
Engenharia ontológica aplicada para o projeto e especificação da ontocancro
(Universidade Federal de Santa MariaBrasilCiência da ComputaçãoUFSMPrograma de Pós-Graduação em Ciência da ComputaçãoCentro de Tecnologia, 2019-08-16)
The analysis of information generated by studies in the field of bioinformatics and molecular
biology helps researchers to understand complex cellular processes and genetic interactions
in the stages of pathologies that ...
From Phenotypes To Trees Of Life: A Metamodel-driven Approach For The Integration Of Taxonomy Models
(Institute of Electrical and Electronics Engineers Inc., 2014)
The humankind genome: from genetic diversity to the origin of human diseases
(National Research Council of CanadaOttawa, 2013-12-09)
Genome-wide association studies have failed to establish common variant risk for the majority of common human diseases. The underlying reasons for this failure are explained by recent studies of resequencing and comparison ...
Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability
(2021)
Bi‐allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation ...
Identification and quantification of oligogenic loss-of-function disorders
(2021)
Purpose: Monogenic disorders can present clinically heterogeneous symptoms. We hypothesized that in patients with a monogenic disorder caused by a large deletion, frequently additional loss-of-function (LOF)-intolerant ...
Genomic Promoter Occupancy of Runt-related Transcription Factor RUNX2 in Osteosarcoma Cells Identifies Genes Involved in Cell Adhesion and Motility
(2012-02-10)
Runt-related transcription factors (RUNX1, RUNX2, and RUNX3) are key lineage-specific regulators of progenitor cell growth and differentiation but also function pathologically as cancer genes that contribute to tumorigenesis. ...
Assessing the landscape of STXBP1-related disorders in 534 individuals
(Oxford University Press, 2022)
Phenotype and genotype of the unamunian alterutralityFenotipo y genotipo de la alterutralidad unamuniana
(Pontificia Universidad Católica del Perú, 2021)