– Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example
– The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results
– Functional precision cancer medicine—moving beyond pure genomics
– A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology
Filed under Diagnóstico, Medicina personalizada, Neurogenética, Neurología, Polimorfismos by on . Comment.
Una revisión sobre los genes candidatos que influyen en la farmacocinética y farmacodinámica del ácido valproico, un anticonvulsivante empleado en el tratamiento de la epilepsia y el trastorno bipolar, y sus potencialidades para la individualización de la terapéutica está disponible en Miao-Miao Z, Hui-Lan L, Li-Hong S, Xiao-Ping C, Jia L, Zan-Ling Z. The pharmacogenomics of valproic acid. Journal of Human Genetics 2017; doi: 10.1038/jhg.2017.91.
Filed under Farmacogenómica, Neurología by on . Comment.
– Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis
– Human venous valve disease caused by mutations in FOXC2 and GJC2
– A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis
– The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome
– Genetic Associations with Gestational Duration and Spontaneous Preterm Birth
– A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson’s Disease
– Autosomal recessive agammaglobulinemia due to defect in µ heavy chain caused by a novel mutation in the IGHM gene
– Identifying genetic variants that affect viability in large cohorts
– A functional genomics predictive network model identifies regulators of inflammatory bowel disease
Filed under Defectos congénitos, Diagnóstico, Medicina personalizada, Neurogenética, Neurología, Polimorfismos by on . Comment.
– Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer’s disease
– Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence
– Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms
– Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes
– Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness
– Severe viral respiratory infections in children with IFIH1 loss-of-function mutations
– Transancestral mapping and genetic load in systemic lupus erythematosus
– Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Filed under Cáncer, Diagnóstico, Medicina personalizada, Neurogenética, Neurología, Patógenos, Polimorfismos by on . Comment.
– Variants in the fetal genome near FLT1 are associated with risk of preeclampsia
– Genetic loci associated with coronary artery disease harbor evidence of selection and antagonistic pleiotropy.
– Truncating mutations in RBM12 are associated with psychosis
– Germline hypomorphic CARD11 mutations in severe atopic disease
– Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
– A novel UBE2A mutation causes X-linked intellectual disability type Nascimento
– Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation
– Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence
– Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome
Filed under Medicina personalizada, Neurología, Patógenos, Polimorfismos by on . Comment.
Un extenso estudio en familias de sujetos con trastornos del desarrollo ha identificado 94 genes muy afectados por mutaciones de novo. La frecuencia de estas enfermedades ha sido estimada en 1 por cada 213 a 448 nacimientos, de acuerdo con Deciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders. Nature 2017; doi:10.1038/nature21062.
Filed under Diagnóstico, Neurogenética, Neurología, Polimorfismos by on . Comment.
– Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
– KLB is associated with alcohol drinking, and its gene product ß-Klotho is necessary for FGF21 regulation of alcohol preference
– RIT1: un nuevo gen causal del síndrome de Noonan
– Titin-truncating variants affect heart function in disease cohorts and the general population
– Variation in PCSK9 and HMGCR and Risk of Cardiovascular Disease and Diabetes
Filed under Cardiopatías, Defectos congénitos, Diagnóstico, Neurogenética, Neurología, Polimorfismos by on . Comment.
Las variaciones en la expresión génica en 19 regiones cerebrales han aclarado que los cambios moleculares en la enfermedad de Alzheimer comienzan tempranamente en la afección y ubican a los giros del lóbulo temporal con las mayores y más precoces alteraciones. Así se publica en Wang M, Roussos P, McKenzie A, Zhou X, Kajiwara Y, Brennand KJ, et al. Integrative network analysis of nineteen brain regions identifies molecular signatures and networks underlying selective regional vulnerability to Alzheimer’s disease. Genome Medicine 2016;8:104.
Filed under Neurología, Polimorfismos by on . Comment.
La infección por zika en células neurales progenitoras tiene efectos más amplios sobre la expresión de genes implicados en la replicación y reparación del ADN, entre ellos p53. Estos y otros hallazgos son descritos en Zhang F, Hammack C, Ogden SC, Cheng Y, Lee EM, Wen Z, et al. Molecular signatures associated with ZIKV exposure in human cortical neural progenitors. Nucl. Acids Res. 2016; doi: 10.1093/nar/gkw765.
Filed under Neurogenética, Neurología, Patógenos by on . Comment.
La activación transcripcional con el sistema CRISPR/Cas9 para modificar el estado epigenético de los genes Brn2, Ascl1 y Myt1l permitió convertir fibroblastos embrionarios de ratón en células neuronales. El resumen del reporte original puede ser consultado en Black JB, Adler AF, Wang HG, D’Ippolito AM, Hutchinson HA, Reddy TE, et al. Targeted Epigenetic Remodeling of Endogenous Loci by CRISPR/Cas9-Based Transcriptional Activators Directly Converts Fibroblasts to Neuronal Cells. Cell Stem Cell 2016; DOI: http://dx.doi.org/10.1016/j.stem.2016.07.001.
Filed under Edición del genoma, Epigenoma, Neurogenética, Neurología by on . Comment.
Disponible la versión digital del libro "Cuba indígena hoy: rostros y ADN"
(Nota en CubaDebate)
