Published in Brain on June 16, 2010
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet (2013) 1.46
Structural basis for Cul3 protein assembly with the BTB-Kelch family of E3 ubiquitin ligases. J Biol Chem (2013) 1.46
The emerging family of CULLIN3-RING ubiquitin ligases (CRL3s): cellular functions and disease implications. EMBO J (2013) 1.43
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet (2010) 1.38
Update on the Kelch-like (KLHL) gene family. Hum Genomics (2013) 1.29
Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation. J Biol Chem (2011) 1.09
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet (2011) 1.09
Crystal structure of KLHL3 in complex with Cullin3. PLoS One (2013) 1.02
UNC-89 (obscurin) binds to MEL-26, a BTB-domain protein, and affects the function of MEI-1 (katanin) in striated muscle of Caenorhabditis elegans. Mol Biol Cell (2012) 0.92
Kelch proteins: emerging roles in skeletal muscle development and diseases. Skelet Muscle (2014) 0.90
Cullin 3 as a novel target in diverse pathologies. Redox Biol (2013) 0.89
Regulation of with-no-lysine kinase signaling by Kelch-like proteins. Biol Cell (2014) 0.86
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. Brain (2014) 0.86
A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency. Eur J Hum Genet (2016) 0.83
New strategies to inhibit KEAP1 and the Cul3-based E3 ubiquitin ligases. Biochem Soc Trans (2014) 0.82
Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular Atrophy. Sci Rep (2015) 0.79
Integrated Genomics of Crohn's Disease Risk Variant Identifies a Role for CLEC12A in Antibacterial Autophagy. Cell Rep (2015) 0.78
Kelch Repeat and BTB Domain Containing Protein 5 (Kbtbd5) Regulates Skeletal Muscle Myogenesis through the E2F1-DP1 Complex. J Biol Chem (2015) 0.75
The age of single-gene neurological disorders is not dead. Brain (2010) 0.75
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility. Am J Hum Genet (2016) 0.75
Clinical utility gene card for: Laing distal myopathy. Eur J Hum Genet (2010) 0.75
Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol (2000) 128.08
Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet (1996) 39.80
PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet (1998) 23.25
Faster sequential genetic linkage computations. Am J Hum Genet (1993) 18.83
Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet (1996) 17.95
Structure of the Cul1-Rbx1-Skp1-F boxSkp2 SCF ubiquitin ligase complex. Nature (2002) 10.96
Keap1 is a redox-regulated substrate adaptor protein for a Cul3-dependent ubiquitin ligase complex. Mol Cell Biol (2004) 6.93
GRR: graphical representation of relationship errors. Bioinformatics (2001) 6.09
Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases. Nat Cell Biol (2003) 5.18
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet (1998) 4.38
The molecular basis of skeletal muscle atrophy. Am J Physiol Cell Physiol (2004) 3.92
Sequence and structural analysis of BTB domain proteins. Genome Biol (2005) 3.88
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet (2000) 3.35
Crystal structure of the BTB domain from PLZF. Proc Natl Acad Sci U S A (1998) 2.84
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet (2001) 2.71
TGF-beta inhibits muscle differentiation through functional repression of myogenic transcription factors by Smad3. Genes Dev (2001) 2.35
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet (2002) 2.14
A Cul3-based E3 ligase removes Aurora B from mitotic chromosomes, regulating mitotic progression and completion of cytokinesis in human cells. Dev Cell (2007) 1.98
Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin. J Mol Biol (2005) 1.88
Reference data for commonly used sensory and motor nerve conduction studies. Muscle Nerve (2009) 1.57
Role of phosphorylation on the structural dynamics and function of types III and IV intermediate filaments. Exp Cell Res (2007) 1.52
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet (2004) 1.50
Drosophila kelch is an oligomeric ring canal actin organizer. J Cell Biol (1997) 1.49
The BACK domain in BTB-kelch proteins. Trends Biochem Sci (2004) 1.48
Zaspopathy in a large classic late-onset distal myopathy family. Brain (2007) 1.47
Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain (2007) 1.46
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci U S A (2004) 1.42
Gene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport. Hum Mol Genet (2006) 1.30
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology (2001) 1.28
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. Hum Mol Genet (2000) 1.26
Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet (1995) 1.22
Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet (1998) 1.17
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet (2009) 1.16
Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry (2005) 1.16
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). J Hum Genet (2002) 1.09
Molecular biology of distal muscular dystrophies--sarcomeric proteins on top. Biochim Biophys Acta (2006) 1.06
Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity. FEBS Lett (2004) 1.04
165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. Neuromuscul Disord (2009) 1.02
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus. Neuromuscul Disord (2001) 0.98
Early onset chromosome 14-linked distal myopathy (Laing). Neuromuscul Disord (2002) 0.90
A German genome-wide linkage scan for type 2 diabetes supports the existence of a metabolic syndrome locus on chromosome 1p36.13 and a type 2 diabetes locus on chromosome 16p12.2. Diabetologia (2007) 0.89
Cloning and expression analysis of a novel salicylate suppressible gene, Hs-CUL-3, a member of cullin/Cdc53 family. J Biol Chem (1998) 0.89
Genetic linkage of Welander distal myopathy to chromosome 2p13. Ann Neurol (1999) 0.85
Study of nerve conduction and late responses in normal Chinese infants, children, and adults. J Child Neurol (1997) 0.82
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13. Neurology (1999) 0.82
A novel zebrafish kelchlike gene klhl and its human ortholog KLHL display conserved expression patterns in skeletal and cardiac muscles. Gene (2004) 0.82
Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3). Neuromuscul Disord (2004) 0.82
Hereditary distal myopathy with onset in early infancy. Observation of a family. J Neurol Sci (1978) 0.82
Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy. Neuromuscul Disord (1998) 0.81
Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy. Ann Neurol (2004) 0.78
[Positional cloning of the gene for Miyoshi myopathy and limb-girdle muscular dystrophy]. Rinsho Shinkeigaku (1999) 0.78
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med (2011) 8.26
Keap1 is a redox-regulated substrate adaptor protein for a Cul3-dependent ubiquitin ligase complex. Mol Cell Biol (2004) 6.93
Distinct cysteine residues in Keap1 are required for Keap1-dependent ubiquitination of Nrf2 and for stabilization of Nrf2 by chemopreventive agents and oxidative stress. Mol Cell Biol (2003) 6.91
Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer. Sci Transl Med (2010) 6.39
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet (2006) 5.29
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nat Genet (2012) 5.28
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Correlation between genetic and geographic structure in Europe. Curr Biol (2008) 5.02
Nrf2 is a direct PERK substrate and effector of PERK-dependent cell survival. Mol Cell Biol (2003) 4.77
G protein-coupled receptor-dependent development of human frontal cortex. Science (2004) 4.42
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34
HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics (2004) 4.00
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
Sequence and structural analysis of BTB domain proteins. Genome Biol (2005) 3.88
HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res (2009) 3.86
Pilot study of extracorporeal removal of soluble fms-like tyrosine kinase 1 in preeclampsia. Circulation (2011) 3.33
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol (2012) 3.29
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat Genet (2002) 3.19
Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium. J Natl Cancer Inst (2010) 3.18
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet (2009) 3.06
A small-molecule inhibitor of BCL6 kills DLBCL cells in vitro and in vivo. Cancer Cell (2010) 3.05
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet (2008) 3.00
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr (2006) 2.97
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet (2013) 2.91
ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics (2005) 2.90
The integrated landscape of driver genomic alterations in glioblastoma. Nat Genet (2013) 2.89
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet (2005) 2.83
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet (2003) 2.80
Gene expression levels assessed by oligonucleotide microarray analysis and quantitative real-time RT-PCR -- how well do they correlate? BMC Genomics (2005) 2.76
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet (2007) 2.75
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet (2008) 2.74
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet (2005) 2.70
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet (2003) 2.69
Structure of the Keap1:Nrf2 interface provides mechanistic insight into Nrf2 signaling. EMBO J (2006) 2.67
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet (2008) 2.65
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet (2008) 2.58
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci (2009) 2.54
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet (2007) 2.46
Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol. Hum Mol Genet (2004) 2.45
Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathway. J Biol Chem (2005) 2.45
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet (2004) 2.40
Ageing-related chromatin defects through loss of the NURD complex. Nat Cell Biol (2009) 2.40
Solution structure and dynamics of the outer membrane enzyme PagP by NMR. Proc Natl Acad Sci U S A (2002) 2.39
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet (2005) 2.38
Derivation of induced pluripotent stem cells from pig somatic cells. Proc Natl Acad Sci U S A (2009) 2.34
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet (2002) 2.34
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A (2006) 2.31
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Hum Mol Genet (2010) 2.26
Lack of myostatin results in excessive muscle growth but impaired force generation. Proc Natl Acad Sci U S A (2007) 2.25
The supramolecular chemistry of organic-inorganic hybrid materials. Angew Chem Int Ed Engl (2006) 2.22
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest (2011) 2.21
Mechanism of SMRT corepressor recruitment by the BCL6 BTB domain. Mol Cell (2003) 2.20
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain (2010) 2.15
Sialylation is essential for early development in mice. Proc Natl Acad Sci U S A (2002) 2.15
Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Circulation (2003) 2.12
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet (2009) 2.10
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet (2009) 2.09
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. Nat Med (2009) 2.08
Evaluation of a potential epigenetic biomarker by quantitative methyl-single nucleotide polymorphism analysis. Electrophoresis (2002) 2.07
Crystal structure of the Kelch domain of human Keap1. J Biol Chem (2004) 2.04
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet (2004) 2.03
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat (2008) 2.03
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat (2008) 2.03
Wnt signaling and Dupuytren's disease. N Engl J Med (2011) 2.02
Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesians. Am J Hum Genet (2008) 2.02
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nat Neurosci (2010) 2.00
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). Nat Genet (2002) 1.99
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease. Clin Chem (2004) 1.99
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet (2005) 1.98
Demographic history of Oceania inferred from genome-wide data. Curr Biol (2010) 1.93
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ Cardiovasc Genet (2008) 1.93
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet (2012) 1.93
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet (2012) 1.91
Stroke MRI in intracerebral hemorrhage: is there a perihemorrhagic penumbra? Stroke (2003) 1.90
Open-label, multicenter, randomized phase III trial of adjuvant chemoradiation plus interferon Alfa-2b versus fluorouracil and folinic acid for patients with resected pancreatic adenocarcinoma. J Clin Oncol (2012) 1.90
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Valproic acid-induced pancreatitis: 16 new cases and a review of the literature. J Gastroenterol (2007) 1.88
NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity. Circulation (2005) 1.87
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest (2010) 1.85
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
PGAM5, a Bcl-XL-interacting protein, is a novel substrate for the redox-regulated Keap1-dependent ubiquitin ligase complex. J Biol Chem (2006) 1.78
Mutations in different components of FGF signaling in LADD syndrome. Nat Genet (2006) 1.76
The gene expression signature of relapse in paediatric acute lymphoblastic leukaemia: implications for mechanisms of therapy failure. Br J Haematol (2005) 1.73
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. J Clin Endocrinol Metab (2009) 1.68