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A Novel de novo Exon 21 DNMT1 Mutation Causes Cerebellar Ataxia, Deafness, and Narcolepsy in a Brazilian Patient
(Amer Acad Sleep Medicine, 2013-08-01)
Study Objectives: Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is caused by DNMT1 mutations. Diagnosing the syndrome can be difficult, as all clinical features may not be present at onset, ...
PHF21B as a candidate tumor suppressor gene in head and neck squamous cell carcinomas
(Elsevier B.V., 2015-02-01)
A significant association between DNA losses on 22q13.31 and head and neck squamous cell carcinomas (HNSCC) was previously reported by our group. Our data indicated that PHF21B gene, mapped on 22q13.31 and encoding a protein ...
PHF21B as a candidate tumor suppressor gene in head and neck squamous cell carcinomas
(Elsevier B.V., 2015)
PHF21B as a candidate tumor suppressor gene in head and neck squamous cell carcinomas
(Elsevier B.V., 2015)
Biología, patobiología y bioclínica de la homocisteína eh la especie humana
(Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud, 2010-06-01)
A trans-methylation mechanism between the two major H3K9 methyltransferases SETDB1 and SUV39H1 regulates heterochromatin establishment
(Universidad del RosarioDoctorado en Ciencias BiomédicasFacultad de Ciencias Naturales y Matemáticas, 2018)
Histone H3 lysine 9 trimethylation (H3K9me3) is a key epigenetic modification required for heterochromatin formation and maintenance, genome stability and silencing of transposable elements in embryonic stems cells (ESCs). ...
Efecto de IGF2 sobre el panorama de metilación del ADN y la expresión de ARNm asociada en la línea celular HTR-8/SVneo
(Universidad Nacional de ColombiaBogotá - Ciencias - Maestría en Ciencias - BioquímicaDepartamento de QuímicaFacultad de CienciasBogotá, ColombiaUniversidad Nacional de Colombia - Sede Bogotá, 2021-07-28)
El proceso de implantación placentaria depende de una minuciosa regulación de la invasión
de la decidua materna por parte del subtipo celular denominado trofoblasto extravelloso,
la evasión del sistema inmune de la madre ...
Autoantibody and environmental damage to the brain
(Universidad del RosarioDoctorado en Ciencias BiomédicasFacultad de Ciencias Naturales y Matemáticas, 2016)
Behavioral abnormalities and cognitive dysfunction may be present in patients with autoimmune diseases. The mechanisms that responsible for these neuropsychiatric manifestations are still largely unknown, however several ...