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UBE3B gene

Known as: UBE3B, UBIQUITIN-PROTEIN LIGASE E3B, ubiquitin protein ligase E3B 
 
National Institutes of Health

Papers overview

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2019
2019
Significance UBE3B is a ubiquitin ligase disrupted in severe neurodevelopmental diseases (NDDs). Mechanistic studies on the… Expand
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Review
2019
Review
2019
Kaufman oculocerebrofacial syndrome is a rare autosomal recessive disorder caused by biallelic variants in UBE3B. Kaufman… Expand
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2018
2018
The "blepharophimosis-mental retardation" syndromes (BMRS) consist of a group of clinically and genetically heterogeneous… Expand
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2016
2016
Recent genome-wide studies found that patients with hypotonia, developmental delay, intellectual disability, congenital anomalies… Expand
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Review
2015
Review
2015
A pair of sisters was ascertained for multiple congenital defects, including marked craniofacial dysmorphisms with… Expand
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2015
2015
Recent genome-wide studies found that patients with hypotonia, developmental delay, intellectual disability, congenital anomalies… Expand
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Review
2014
Review
2014
Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as… Expand
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2013
2013
Background Kaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly… Expand
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2013
2013
The degradation of myofibrillar proteins during meat maturation affects the water holding capacity (WHC) of meat. Our study… Expand
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2000
2000
Differential gene expression forms the basis for development, differentiation, regeneration, and plasticity of tissues and organs… Expand
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