- Global discovery of lupus genetic risk variant allelic enhancer activity
– De novo ATP1A3 variants cause polymicrogyria
– Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study
– Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript
Filed under Cardiopatías, Defectos congénitos, Diagnóstico, Polimorfismos by on . Comment.
El estudio del ADN circulante, por medio de una muestra de sangre, abre nuevas perspectivas en el diagnóstico oncológico, aunque se exploran sus aplicaciones en el infarto del miocardio, el ictus y otras afecciones. Un editorial habla sobre su introducción en el laboratorio clínico: Jiménez W. Biopsia líquida: un reto para el laboratorio de diagnóstico clínico. Avances en Medicina de Laboratorio, 2020; DOI: https://doi.org/10.1515/almed-2020-0036.
Filed under Cáncer, Cardiopatías, Diagnóstico, Neurología by on . Comment.
- Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction
– Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts
– Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
– Forward genetics identifies a novel sleep mutant with sleep state inertia and REM sleep deficits
– Causal Genetic Variants in Stillbirth
– A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling
Filed under Cáncer, Cardiopatías, Defectos congénitos, Diagnóstico, Neurología, Polimorfismos by on . Comment.
- Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
– The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly
– Association of Genetic Risks With Autism Spectrum Disorder and Early Neurodevelopmental Delays Among Children Without Intellectual Disability
– Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations
– Functional validity, role, and implications of heavy alcohol consumption genetic loci
Filed under Cardiopatías, Diagnóstico, Genómica, Medicina personalizada, Neurogenética, Neurología, Polimorfismos by on . Comment.
- Multivariate Genome-wide Association Analysis of a Cytokine Network Reveals Variants with Widespread Immune, Haematological, and Cardiometabolic Pleiotropy
– Exome Sequencing Identifies Susceptibility Loci for Sarcoidosis Prognosis
– Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
– Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations
Filed under Cardiopatías, Diagnóstico, Medicina personalizada, Polimorfismos by on . Comment.
- Risk of spontaneous preterm birth and fetal growth associates with fetal SLIT2.
– Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
– CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
– Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure.
Filed under Bioinformática, Cardiopatías, Defectos congénitos, Diagnóstico, Neurogenética, Polimorfismos by on . Comment.
- Bak RO, Dever DP, Porteus MH. CRISPR/Cas9 genome editing in human hematopoietic stem cells. Nature Protocols, 2018;13:358–376.
– Gao X, Tao Y, Lamas V, Huang M, Yeh WH, Pan B, et al. Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents. Nature, 2018;553:217–221.
– Behler J, Sharma K, Reimann V, Wilde A, Urlaub H, Hess WR. The host-encoded RNase E endonuclease as the crRNA maturation enzyme in a CRISPR–Cas subtype III-Bv system. Nature Microbiology, 2018;3:367–377.
– King A. A CRISPR edit for heart disease. Nature, 2018;555:S23-S25.
– Scott A. How CRISPR is transforming drug discovery. Nature, 2018;555:S10-S11.
Filed under Cardiopatías, Defectos congénitos, Edición del genoma by on . Comment.
Disponible desde el 26 de junio de 2010. Editado por: Dr. Orlando R. Serrano Barrera, MSc.
Órgano oficial de la Cátedra Multidisciplinaria de Medicina Genómica. Hospital General Docente Dr. Ernesto Guevara, Universidad de Ciencias Médicas de Las Tunas, Cuba. orlandosb@infomed.sld.cu orlandorsb@gmail.com
