标题
Further delineation of the clinical spectrum of de novo TRIM8
truncating mutations
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2018-09-23
DOI
10.1002/ajmg.a.40357
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern
- (2017) Markus von Deimling et al. EPILEPSY RESEARCH
- Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
- (2017) Sheng Chih Jin et al. NATURE GENETICS
- DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome
- (2016) Janson J. White et al. AMERICAN JOURNAL OF HUMAN GENETICS
- De NovoTruncating Mutation ofTRIM8Causes Early-Onset Epileptic Encephalopathy
- (2016) Yasunari Sakai et al. ANNALS OF HUMAN GENETICS
- Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test
- (2016) J. Thevenon et al. CLINICAL GENETICS
- Tripartite Motif 8 (TRIM8) Positively Regulates Pro-inflammatory Responses in Pseudomonas aeruginosa-Induced Keratitis Through Promoting K63-Linked Polyubiquitination of TAK1 Protein
- (2016) Litao Guo et al. INFLAMMATION
- TRIM32 ubiquitin E3 ligase, one enzyme for several pathologies: From muscular dystrophy to tumours
- (2016) Elisa Lazzari et al. INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
- Congenital valvular defects associated with deleterious mutations in the PLD1 gene
- (2016) Asaf Ta-Shma et al. JOURNAL OF MEDICAL GENETICS
- The genetic landscape of the epileptic encephalopathies of infancy and childhood
- (2016) Amy McTague et al. LANCET NEUROLOGY
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms
- (2016) Servi J. C. Stevens et al. Genome Medicine
- Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations ofWDR73
- (2015) Robert N. Jinks et al. BRAIN
- Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis
- (2015) Davut Pehlivan et al. HUMAN GENETICS
- GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
- (2015) Nara Sobreira et al. HUMAN MUTATION
- TRIM8 anti-proliferative action against chemo-resistant renal cell carcinoma
- (2015) Mariano Francesco Caratozzolo et al. Oncotarget
- Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome
- (2014) Estelle Colin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
- (2014) Silke Appenzeller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Truncating mutations in the last exon ofNOTCH3cause lateral meningocele syndrome
- (2014) Karen W. Gripp et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Epileptic Encephalopathies: New Genes and New Pathways
- (2014) Sahar Esmaeeli Nieh et al. Neurotherapeutics
- Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy
- (2013) E. Ylikallio et al. HUMAN MOLECULAR GENETICS
- TRIMmunity: The Roles of the TRIM E3-Ubiquitin Ligase Family in Innate Antiviral Immunity
- (2013) Ricardo Rajsbaum et al. JOURNAL OF MOLECULAR BIOLOGY
- De novo mutations in epileptic encephalopathies
- (2013) et al. NATURE
- Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome
- (2012) Rebecca L. Hood et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
- (2011) Bertrand Isidor et al. NATURE GENETICS
- Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
- (2011) Michael A Simpson et al. NATURE GENETICS
- Galloway–Mowat syndrome: An early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature
- (2010) Marianna Pezzella et al. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
- Trim24 targets endogenous p53 for degradation
- (2009) Kendra Allton et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- PML enhances the regulation of p53 by CK1 in response to DNA damage
- (2008) O Alsheich-Bartok et al. ONCOGENE
- Collapsing glomerulopathy in Galloway–Mowat syndrome: A case report and review of the literature
- (2008) Hervé Sartelet et al. PATHOLOGY RESEARCH AND PRACTICE
- Deficiency in ubiquitin ligase TRIM2 causes accumulation of neurofilament light chain and neurodegeneration
- (2008) M. Balastik et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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