Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

PubWeight™: 1.59‹?› | Rank: Top 4%

🔗 View Article (PMID 9361030)

Published in Hum Mol Genet on December 01, 1997

Authors

S Abdelhak1, V Kalatzis, R Heilig, S Compain, D Samson, C Vincent, F Levi-Acobas, C Cruaud, M Le Merrer, M Mathieu, R König, J Vigneron, J Weissenbach, C Petit, D Weil

Author Affiliations

1: Unit de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, 25 rue du Dr. Roux, 75724 Paris Cedex 15, France.

Articles citing this

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A (2004) 2.41

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease. Hum Genet (2005) 2.10

Active Alu element "A-tails": size does matter. Genome Res (2002) 1.79

Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. Proc Natl Acad Sci U S A (2006) 1.61

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet (2007) 1.52

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet (1999) 1.50

Microtia: epidemiology and genetics. Am J Med Genet A (2011) 1.42

Six1 and Eya1 expression can reprogram adult muscle from the slow-twitch phenotype into the fast-twitch phenotype. Mol Cell Biol (2004) 1.39

Eya2 is required to mediate the pro-metastatic functions of Six1 via the induction of TGF-β signaling, epithelial-mesenchymal transition, and cancer stem cell properties. Oncogene (2011) 1.30

Eya1-Six1 interaction is sufficient to induce hair cell fate in the cochlea by activating Atoh1 expression in cooperation with Sox2. Dev Cell (2012) 1.30

Eya 1 acts as a critical regulator for specifying the metanephric mesenchyme. Dev Biol (2005) 1.17

The Eyes Absent proteins in development and disease. Cell Mol Life Sci (2012) 1.16

At the speed of sound: gene discovery in the auditory system. Am J Hum Genet (2001) 1.15

Patterning of the third pharyngeal pouch into thymus/parathyroid by Six and Eya1. Dev Biol (2006) 1.13

Eya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner ear. Dev Biol (2006) 1.10

Using Drosophila to decipher how mutations associated with human branchio-oto-renal syndrome and optical defects compromise the protein tyrosine phosphatase and transcriptional functions of eyes absent. Genetics (2005) 1.07

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. Kidney Int (2011) 1.07

Molecular analysis of Drosophila eyes absent mutants reveals features of the conserved Eya domain. Genetics (2000) 1.03

Auditory capacities in Middle Pleistocene humans from the Sierra de Atapuerca in Spain. Proc Natl Acad Sci U S A (2004) 1.00

De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease. Hum Genet (2003) 0.95

LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption. J Biomed Biotechnol (2006) 0.94

Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. J Biol Chem (2009) 0.93

Roles for retrotransposon insertions in human disease. Mob DNA (2016) 0.92

Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562. Clin Cancer Res (2009) 0.92

Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion. Pediatr Nephrol (2010) 0.92

A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. J Assoc Res Otolaryngol (2004) 0.89

Drosophila EYA regulates the immune response against DNA through an evolutionarily conserved threonine phosphatase motif. PLoS One (2012) 0.88

Expression of evolutionarily conserved eye specification genes during Drosophila embryogenesis. Dev Genes Evol (2001) 0.87

Development and evolution of the vestibular sensory apparatus of the mammalian ear. J Vestib Res (2005) 0.87

Pleiotropic effects in Eya3 knockout mice. BMC Dev Biol (2008) 0.86

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease. Hum Genet (2003) 0.86

Molecular conservation and novelties in vertebrate ear development. Curr Top Dev Biol (2003) 0.86

Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24. Nephrol Dial Transplant (2009) 0.86

Refining transcriptional programs in kidney development by integration of deep RNA-sequencing and array-based spatial profiling. BMC Genomics (2011) 0.85

EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis. Biol Cell (2010) 0.84

The EYA tyrosine phosphatase activity is pro-angiogenic and is inhibited by benzbromarone. PLoS One (2012) 0.84

Allosteric inhibitors of the Eya2 phosphatase are selective and inhibit Eya2-mediated cell migration. J Biol Chem (2014) 0.84

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome. Hum Genet (2013) 0.82

Renal hypoplasia: lessons from Pax2. Pediatr Nephrol (2005) 0.82

Balancing cell numbers during organogenesis: Six1a differentially affects neurons and sensory hair cells in the inner ear. Dev Biol (2011) 0.81

Nemo phosphorylates Eyes absent and enhances output from the Eya-Sine oculis transcriptional complex during Drosophila retinal determination. Dev Biol (2012) 0.81

Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. Hum Genet (2013) 0.81

EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions. Pediatr Nephrol (2006) 0.81

Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation. BMC Nephrol (2013) 0.79

Genome-wide linkage study suggests a susceptibility locus for isolated bilateral microtia on 4p15.32-4p16.2. PLoS One (2014) 0.78

Multiple Functions of the Eya Phosphotyrosine Phosphatase. Mol Cell Biol (2015) 0.78

Alu mobile elements: from junk DNA to genomic gems. Scientifica (Cairo) (2012) 0.78

Gene rearrangements in hormone receptor negative breast cancers revealed by mate pair sequencing. BMC Genomics (2013) 0.77

HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene. Immunogenetics (2006) 0.77

Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks. BMC Med Genet (2014) 0.76

Genetic Advances in the Understanding of Microtia. J Pediatr Genet (2016) 0.75

Six1 is essential for differentiation and patterning of the mammalian auditory sensory epithelium. PLoS Genet (2017) 0.75

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol (2017) 0.75

Articles by these authors

Initial sequencing and analysis of the human genome. Nature (2001) 212.86

The genome sequence of Drosophila melanogaster. Science (2000) 74.32

A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature (1996) 27.61

An STS-based map of the human genome. Science (1995) 17.72

The 1993-94 Généthon human genetic linkage map. Nat Genet (1994) 17.64

Identification and characterization of a spinal muscular atrophy-determining gene. Cell (1995) 17.41

Estimate of human gene number provided by genome-wide analysis using Tetraodon nigroviridis DNA sequence. Nat Genet (2000) 14.51

A gene map of the human genome. Science (1996) 14.32

A physical map of 30,000 human genes. Science (1998) 12.43

A physical map of the human genome. Nature (2001) 12.39

Criteria for evaluating disease response and progression in patients with multiple myeloma treated by high-dose therapy and haemopoietic stem cell transplantation. Myeloma Subcommittee of the EBMT. European Group for Blood and Marrow Transplant. Br J Haematol (1998) 10.77

The complete genome sequence of the lactic acid bacterium Lactococcus lactis ssp. lactis IL1403. Genome Res (2001) 8.63

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature (1996) 8.02

Genome sequence and gene compaction of the eukaryote parasite Encephalitozoon cuniculi. Nature (2001) 7.53

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature (1994) 7.30

Genome sequence of the plant pathogen Ralstonia solanacearum. Nature (2002) 6.23

HIV-1 genome nuclear import is mediated by a central DNA flap. Cell (2000) 5.87

Risk, safety, and the dark side of quality. BMJ (1997) 5.68

Prescribing errors in hospital inpatients: their incidence and clinical significance. Qual Saf Health Care (2002) 5.52

Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature (1996) 5.44

An epigenetic mutation responsible for natural variation in floral symmetry. Nature (1999) 5.32

Mechanisms of evolution in Rickettsia conorii and R. prowazekii. Science (2001) 5.32

An interspersed repeated sequence specific for human subtelomeric regions. EMBO J (1990) 5.30

A radiation hybrid map of the human genome. Hum Mol Genet (1996) 4.75

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet (1999) 4.74

The bearded airway. Anaesthesia (1998) 4.69

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet (2006) 4.64

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell (1999) 4.52

Langerin, a novel C-type lectin specific to Langerhans cells, is an endocytic receptor that induces the formation of Birbeck granules. Immunity (2000) 4.44

Inflorescence commitment and architecture in Arabidopsis. Science (1997) 4.26

The ovalbumin gene family: structure of the X gene and evolution of duplicated split genes. Cell (1980) 4.14

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature (1994) 4.04

The major synovial targets of the rheumatoid arthritis-specific antifilaggrin autoantibodies are deiminated forms of the alpha- and beta-chains of fibrin. J Immunol (2001) 3.92

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet (1997) 3.79

Crystal structure of the RNA-dependent RNA polymerase of hepatitis C virus. Proc Natl Acad Sci U S A (1999) 3.77

Origin of floral asymmetry in Antirrhinum. Nature (1996) 3.74

Genomic exploration of the hemiascomycetous yeasts: 1. A set of yeast species for molecular evolution studies. FEBS Lett (2000) 3.71

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet (2000) 3.71

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet (1997) 3.68

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell (1991) 3.59

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet (2001) 3.50

A first-generation physical map of the human genome. Nature (1993) 3.40

Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet (1997) 3.37

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet (1999) 3.37

Simple, rapid method for assay of aminoglycoside antibiotics. Lancet (1971) 3.35

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet (1997) 3.26

The epitopes targeted by the rheumatoid arthritis-associated antifilaggrin autoantibodies are posttranslationally generated on various sites of (pro)filaggrin by deimination of arginine residues. J Immunol (1999) 3.22

A method for constructing radiation hybrid maps of whole genomes. Nat Genet (1994) 3.19

New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study. Proc Natl Acad Sci U S A (1998) 3.14

The complete genome sequence of Lactobacillus bulgaricus reveals extensive and ongoing reductive evolution. Proc Natl Acad Sci U S A (2006) 3.11

A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature (1986) 3.09

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet (1995) 3.05

A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet (1986) 3.03

A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nat Genet (1996) 2.98

An evaluation of adverse incident reporting. J Eval Clin Pract (1999) 2.96

Resistance-associated loss of viral fitness in human immunodeficiency virus type 1: phenotypic analysis of protease and gag coevolution in protease inhibitor-treated patients. J Virol (1998) 2.92

Two interferon mRNAs in human fibroblasts: in vitro translation and Escherichia coli cloning studies. Proc Natl Acad Sci U S A (1980) 2.88

A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Science (1985) 2.88

The translational regulator CPEB1 provides a link between dcp1 bodies and stress granules. J Cell Sci (2005) 2.86

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet (1994) 2.83

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet (1993) 2.79

The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain. Development (2001) 2.78

The complete genome sequence of the murine respiratory pathogen Mycoplasma pulmonis. Nucleic Acids Res (2001) 2.75

Control of organ asymmetry in flowers of Antirrhinum. Cell (1999) 2.74

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet (2001) 2.72

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet (1994) 2.71

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet (1997) 2.68

Human immunodeficiency virus type 1 entry into macrophages mediated by macropinocytosis. J Virol (2001) 2.67

Combination therapy with efavirenz, nelfinavir, and nucleoside reverse-transcriptase inhibitors in children infected with human immunodeficiency virus type 1. Pediatric AIDS Clinical Trials Group 382 Team. N Engl J Med (1999) 2.67

Genome evolution at the genus level: comparison of three complete genomes of hyperthermophilic archaea. Genome Res (2001) 2.64

Bacterial mode of replication with eukaryotic-like machinery in a hyperthermophilic archaeon. Science (2000) 2.64

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet (1997) 2.59

Control of inflorescence architecture in Antirrhinum. Nature (1996) 2.56

Starting to unravel the toxoglossan knot: molecular phylogeny of the "turrids" (Neogastropoda: Conoidea). Mol Phylogenet Evol (2007) 2.55

Mutant WD-repeat protein in triple-A syndrome. Nat Genet (2000) 2.54

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet (1995) 2.52

KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway. Proc Natl Acad Sci U S A (2000) 2.45