相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Comprehensive Landscape of Active Deubiquitinating Enzymes Profiled by Advanced Chemoproteomics
Adan Pinto-Fernandez et al.
FRONTIERS IN CHEMISTRY (2019)
VarSome: the human genomic variant search engine
Christos Kopanos et al.
BIOINFORMATICS (2019)
Homozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: A new report and review of the literature
Julie Simon et al.
CLINICAL CASE REPORTS (2019)
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
Sophie Nambot et al.
GENETICS IN MEDICINE (2018)
Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome
Jiani Yin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome
Mohammed Uddin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome
M. Cecilia Poli et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Regulation of proteasome assembly and activity in health and disease
Adrien Rousseau et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2018)
Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes
Jiani Yin et al.
SCIENTIFIC REPORTS (2017)
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
Teresa Santiago-Sim et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H. Hu et al.
MOLECULAR PSYCHIATRY (2016)
Fetal oxidative stress mechanisms of neurodevelopmental deficits and exacerbation by ethanol and methamphetamine
Peter G. Wells et al.
BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS (2016)
Molecular basis of Lys11-polyubiquitin specificity in the deubiquitinase Cezanne
Tycho E. T. Mevissen et al.
NATURE (2016)
A mouse model of the 15q13.3 microdeletion syndrome shows prefrontal neurophysiological dysfunctions and attentional impairment
Simon R. O. Nilsson et al.
PSYCHOPHARMACOLOGY (2016)
Insight of brain degenerative protein modifications in the pathology of neurodegeneration and dementia by proteomic profiling
Sunil S. Adav et al.
MOLECULAR BRAIN (2016)
15q13.3 homozygous knockout mouse model display epilepsy-, autism- and schizophrenia-related phenotypes
A. Forsingdal et al.
TRANSLATIONAL PSYCHIATRY (2016)
Protein Oxidation in Aging: Does It Play a Role in Aging Progression?
Sandra Reeg et al.
ANTIOXIDANTS & REDOX SIGNALING (2015)
Dysfunction in protein clearance by the proteasome: impact on autoinflammatory diseases
Anja Brehm et al.
SEMINARS IN IMMUNOPATHOLOGY (2015)
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature
Chelsea Lowther et al.
GENETICS IN MEDICINE (2015)
Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth
Claire C. Homan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay
Pankaj Prasun et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis
Alice Masurel-Paulet et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree
Claudia Soler-Alfonso et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
The Database of Genomic Variants: a curated collection of structural variation in the human genome
Jeffrey R. MacDonald et al.
NUCLEIC ACIDS RESEARCH (2014)
OTU Deubiquitinases Reveal Mechanisms of Linkage Specificity and Enable Ubiquitin Chain Restriction Analysis
Tycho E. T. Mevissen et al.
CELL (2013)
Identification of single gene deletions at15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype
N. Hoppman-Chaney et al.
CLINICAL GENETICS (2013)
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern
Sietske H. Kevelam et al.
NEUROLOGY (2013)
α7-Nicotinic Receptors and Cognition
Edward D. Levin
CURRENT DRUG TARGETS (2012)
The Role of Deubiquitinating Enzymes in Synaptic Function and Nervous System Diseases
Jennifer R. Kowalski et al.
NEURAL PLASTICITY (2012)
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings
Malte Spielmann et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2011)
Homozygous Loss of CHRNA7 on Chromosome 15q13.3 Causes Severe Encephalopathy With Seizures and Hypotonia
Volker Endris et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
The immunoproteasome, the 20S proteasome and the PA28αβ proteasome regulator are oxidative-stress-adaptive proteolytic complexes
Andrew M. Pickering et al.
BIOCHEMICAL JOURNAL (2010)
Delineation of 15q13.3 microdeletions
A. Masurel-Paulet et al.
CLINICAL GENETICS (2010)
Vigabatrin-associated reversible MRI signal changes in patients with infantile spasms
Aphrodite Dracopoulos et al.
EPILEPSIA (2010)
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
Sarah E. Calvo et al.
NATURE GENETICS (2010)
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
Andrew J. Sharp et al.
NATURE GENETICS (2008)
The role of acetylcholine in learning and memory
Michael E. Hasselmo
CURRENT OPINION IN NEUROBIOLOGY (2006)
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients
I Longo et al.
JOURNAL OF MEDICAL GENETICS (2003)
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation
I Meloni et al.
NATURE GENETICS (2002)