The Active Form of E6-associated protein (E6AP)/UBE3A Ubiquitin Ligase Is an Oligomer [PDF]
, 2013 Virginia P. Ronchi +3 more
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Dopaminergic dysfunction in neurodevelopmental disorders: recent advances and synergistic technologies to aid basic research [PDF]
, 2018 Neurodevelopmental disorders (NDDs) represent a diverse group of syndromes characterized by abnormal development of the central nervous system and whose symptomatology includes cognitive, emotional, sensory, and motor impairments.
Gradinaru, Viviana, Robinson, J. Elliott
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Expression of Atrophy mRNA Relates to Tendon Tear Size in Supraspinatus Muscle [PDF]
, 2018 Skeletal muscle atrophy and fatty infiltration develop after tendon tearing. The extent of atrophy serves as one prognostic factor for the outcome of surgical repair of rotator cuff tendon tears.
Fuchs, Bruno +5 more
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Change in gene expression of mouse embryonic stem cells derived from parthenogenetic activation [PDF]
, 2017 BACKGROUND We previously established parthenogenetic mouse embryonic stem cells (ESCs) and this study was subsequently conducted for elucidating the influence of oocyte parthenogenesis on gene expression profile of ESCs.
Gong, Seung Pyo +6 more
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Relação genótipo-fenótipo em indivíduos com autismo [PDF]
, 2011 Trabalho de projecto de mestrado em Medicina (Biomedicina), apresentado á Faculdade de Medicina da Universidade de CoimbraIntrodução: O autismo é uma perturbação global do neurodesenvolvimento que, na maioria dos casos se manifesta, durante os dois ...
Peixoto, Sara Cecília Carneiro
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Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing [PDF]
, 2016 Jana Staňurová +9 more
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Brain Research BulletinMutations in the UBE3A gene are responsible for neurodevelopmental disorders (NDDs), including Angelman syndrome (AS), which is characterized by developmental delays, impaired motor coordination, and cognitive disabilities.
Godfried Dougnon +2 more
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MAP7D2 is a brain expressing X-linked maternal imprinted gene in humans [PDF]
, 2011 Increasing evidence suggests imprinted genes influence mouse and human behaviors and cognitive functions. Unlike autosomal imprinted genes, X-linked imprinted genes are expressed in a sex-dependent manner because of male hemizygosity.
Akihiro Yachie, Yo Niida
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The autism-linked UBE3A T485A mutant E3 ubiquitin ligase activates the Wnt/β-catenin pathway by inhibiting the proteasome [PDF]
, 2017 Choudhury, Rajarshi +8 more
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