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。Proteomic analysis of the human KEOPS complex identifies C14ORF142 as a core subunit homologous to yeast Gon7
Leo C. K. Wan et al.
NUCLEIC ACIDS RESEARCH (2017)
tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy
Simon Edvardson et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Analysis of RNA modifications by liquid chromatography-tandem mass spectrometry
Kathrin Thuering et al.
METHODS (2016)
The Perseus computational platform for comprehensive analysis of (prote)omics data
Stefka Tyanova et al.
NATURE METHODS (2016)
Sensitivity of mass spectrometry analysis depends on the shape of the filtration unit used for filter aided sample preparation (FASP)
Joanna Lipecka et al.
PROTEOMICS (2016)
Global translational impacts of the loss of the tRNA modification t(6)A in yeast
Patrick C. Thiaville et al.
MICROBIAL CELL (2016)
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73
Robert N. Jinks et al.
BRAIN (2015)
Optimization of Codon Translation Rates via tRNA Modifications Maintains Proteome Integrity
Danny D. Nedialkova et al.
CELL (2015)
A Dynamic Unfolded Protein Response Contributes to the Control of Cortical Neurogenesis
Sophie Laguesse et al.
DEVELOPMENTAL CELL (2015)
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease
Julia Vodopiutz et al.
HUMAN MUTATION (2015)
KANK deficiency leads to pod ocyte dysfunction and nephrotic syndrome
Heon Yung Gee et al.
JOURNAL OF CLINICAL INVESTIGATION (2015)
The Phyre2 web portal for protein modeling, prediction and analysis
Lawrence A. Kelley et al.
NATURE PROTOCOLS (2015)
Crystal structures of the Gon7/Pcc1 and Bud32/Cgi121 complexes provide a model for the complete yeast KEOPS complex
Wenhua Zhang et al.
NUCLEIC ACIDS RESEARCH (2015)
A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51
Najim Ameziane et al.
NATURE COMMUNICATIONS (2015)
Comparison of T7E1 and Surveyor Mismatch Cleavage Assays to Detect Mutations Triggered by Engineered Nucleases
Lena Vouillot et al.
G3-GENES GENOMES GENETICS (2015)
A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome
Carolin E. Sadowski et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2015)
Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome
Estelle Colin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Guidelines for investigating causality of sequence variants in human disease
D. G. MacArthur et al.
NATURE (2014)
Improving CRISPR-Cas nuclease specificity using truncated guide RNAs
Yanfang Fu et al.
NATURE BIOTECHNOLOGY (2014)
CHOPCHOP: a CRISPR/Cas9 and TALEN web tool for genome editing
Tessa G. Montague et al.
NUCLEIC ACIDS RESEARCH (2014)
Easy quantitative assessment of genome editing by sequence trace decomposition
Eva K. Brinkman et al.
NUCLEIC ACIDS RESEARCH (2014)
Efficient Mutagenesis by Cas9 Protein-Mediated Oligonucleotide Insertion and Large-Scale Assessment of Single-Guide RNAs
James A. Gagnon et al.
PLOS ONE (2014)
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
Jan Halbritter et al.
HUMAN GENETICS (2013)
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling
Heon Yung Gee et al.
JOURNAL OF CLINICAL INVESTIGATION (2013)
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
Shazia Ashraf et al.
JOURNAL OF CLINICAL INVESTIGATION (2013)
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
Moumita Chaki et al.
CELL (2012)
The Arp2/3 complex is required for lamellipodia extension and directional fibroblast cell migration
Praveen Suraneni et al.
JOURNAL OF CELL BIOLOGY (2012)
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing
Jan Halbritter et al.
JOURNAL OF MEDICAL GENETICS (2012)
A high-throughput approach for measuring temporal changes in the interactome
Anders R. Kristensen et al.
NATURE METHODS (2012)
The Human EKC/KEOPS Complex Is Recruited to Cullin2 Ubiquitin Ligases by the Human Tumour Antigen PRAME
Adalberto Costessi et al.
PLOS ONE (2012)
The highly conserved KEOPS/EKC complex is essential for a universal tRNA modification, t6A
Madhusudhan Srinivasan et al.
EMBO JOURNAL (2011)
A role for the universal Kae1/Qri7/YgjD (COG0533) family in tRNA modification
Basma El Yacoubi et al.
EMBO JOURNAL (2011)
Gcn4 misregulation reveals a direct role for the evolutionary conserved EKC/KEOPS in the t6A modification of tRNAs
Marie-Claire Daugeron et al.
NUCLEIC ACIDS RESEARCH (2011)
A Chemosensitization Screen Identifies TP53RK, a Kinase that Restrains Apoptosis after Mitotic Stress
David Peterson et al.
CANCER RESEARCH (2010)
Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome
Fabien Touzot et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
The universal Kae1 protein and the associated Bud32 kinase (PRPK), a mysterious protein couple probably essential for genome maintenance in Archaea and Eukarya
Arnaud Hecker et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2009)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life
Friedhelm Hildebrandt et al.
KIDNEY INTERNATIONAL (2009)
Qri7/OSGEPL, the mitochondrial version of the universal Kae1/YgjD protein, is essential for mitochondrial genome maintenance
Jacques Oberto et al.
NUCLEIC ACIDS RESEARCH (2009)
HomozygosityMapper-an interactive approach to homozygosity mapping
Dominik Seelow et al.
NUCLEIC ACIDS RESEARCH (2009)
A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations
Friedhelm Hildebrandt et al.
PLOS GENETICS (2009)
The role of the DNA damage response pathways in brain development and microcephaly: Insight from human disorders
Mark O'Driscoll et al.
DNA REPAIR (2008)
Structure of the archaeal Kae1/Bud32 fusion protein MJ1130: a model for the eukaryotic EKC/KEOPS subcomplex
Arnaud Hecker et al.
EMBO JOURNAL (2008)
Atomic Structure of the KEOPS Complex: An Ancient Protein Kinase-Containing Molecular Machine
Daniel Y. L. Mao et al.
MOLECULAR CELL (2008)
MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification
Juergen Cox et al.
NATURE BIOTECHNOLOGY (2008)
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling
Elen Griffith et al.
NATURE GENETICS (2008)
Method for isolation of PCR-ready genomic DNA from zebrafish tissues
Nathan D. Meeker et al.
BIOTECHNIQUES (2007)
Actin up: regulation of podocyte structure and function by components of the actin cytoskeleton
Christian Faul et al.
TRENDS IN CELL BIOLOGY (2007)
Yeast homolog of a cancer-testis antigen defines a new transcription complex
Elena Kisseleva-Romanova et al.
EMBO JOURNAL (2006)
A genome-wide screen identifies the evolutionarily conserved KEOPS complex as a telomere regulator
M Downey et al.
CELL (2006)
Divergent roles of IRE1α and PERK in the unfolded protein response
M Schröder et al.
CURRENT MOLECULAR MEDICINE (2006)
Podocyte. depletion causes glomerulosclerosis: Diphtheria toxin-induced podocyte depletion in rats expressing human diphtheria toxin receptor transgene
BL Wharram et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2005)
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome
M O'Driscoll et al.
NATURE GENETICS (2003)
Accurate translation of the genetic code depends on tRNA modified nucleosides
C Yarian et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
分享论文
