Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I.

PubWeight™: 0.94‹?›

🔗 View Article (PMID 1303207)

Published in Hum Mol Genet on August 01, 1992

Authors

K Tsukamoto1, T Tohma, T Ohta, K Yamakawa, Y Fukushima, Y Nakamura, N Niikawa

Author Affiliations

1: Department of Biochemistry, Cancer Institute, Tokyo, Japan.

Articles by these authors

Sequence analysis of the genome of the unicellular cyanobacterium Synechocystis sp. strain PCC6803. II. Sequence determination of the entire genome and assignment of potential protein-coding regions. DNA Res (1996) 28.37

Genetic alterations during colorectal-tumor development. N Engl J Med (1988) 26.82

Variable number of tandem repeat (VNTR) markers for human gene mapping. Science (1987) 25.71

The Average Number of Generations until Fixation of a Mutant Gene in a Finite Population. Genetics (1969) 21.57

Whole genome sequencing of meticillin-resistant Staphylococcus aureus. Lancet (2001) 18.55

Slightly deleterious mutant substitutions in evolution. Nature (1973) 13.79

A model of mutation appropriate to estimate the number of electrophoretically detectable alleles in a finite population. Genet Res (1973) 13.08

Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas. Science (1989) 11.53

Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science (1991) 9.89

GENIA corpus--semantically annotated corpus for bio-textmining. Bioinformatics (2003) 8.89

Linkage disequilibrium at steady state determined by random genetic drift and recurrent mutation. Genetics (1969) 7.33

Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like protein. Proc Natl Acad Sci U S A (1988) 7.26

Role of very slightly deleterious mutations in molecular evolution and polymorphism. Theor Popul Biol (1976) 6.91

Quantum computers. Nature (2010) 6.79

Protein polymorphism as a phase of molecular evolution. Nature (1971) 6.68

A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage. Nature (2000) 6.01

When is cancer pain mild, moderate or severe? Grading pain severity by its interference with function. Pain (1995) 5.97

p53AIP1, a potential mediator of p53-dependent apoptosis, and its regulation by Ser-46-phosphorylated p53. Cell (2000) 5.64

Allelotype of colorectal carcinomas. Science (1989) 5.54

The action of tetrodotoxin on electrogenic components of squid giant axons. J Gen Physiol (1965) 5.42

AXIN1 mutations in hepatocellular carcinomas, and growth suppression in cancer cells by virus-mediated transfer of AXIN1. Nat Genet (2000) 5.26

Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor. Science (1993) 5.22

Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. Hum Mol Genet (1992) 5.14

On some principles governing molecular evolution. Proc Natl Acad Sci U S A (1974) 4.97

Complete genome structure of the nitrogen-fixing symbiotic bacterium Mesorhizobium loti. DNA Res (2000) 4.94

Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor. Science (1993) 4.63

Rapid colorectal adenoma formation initiated by conditional targeting of the Apc gene. Science (1997) 4.62

The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation. J Biol Chem (2001) 4.51

The gene for familial polyposis coli maps to the long arm of chromosome 5. Science (1987) 4.48

The age of a neutral mutant persisting in a finite population. Genetics (1973) 4.44

Transient regulation of protein synthesis in Escherichia coli upon shift-up of growth temperature. J Bacteriol (1978) 4.38

Complete genomic sequence of the filamentous nitrogen-fixing cyanobacterium Anabaena sp. strain PCC 7120. DNA Res (2001) 4.27

A primary genetic map of markers of human chromosome 10. Genomics (1988) 4.23

Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer. Cancer Res (1992) 4.21

Complete genome sequence of the alkaliphilic bacterium Bacillus halodurans and genomic sequence comparison with Bacillus subtilis. Nucleic Acids Res (2000) 4.11

Identification and characterization of the potential promoter regions of 1031 kinds of human genes. Genome Res (2001) 4.03

Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature (1988) 3.96

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature (1998) 3.86

Complex formation and functional versatility of Mre11 of budding yeast in recombination. Cell (1998) 3.80

Currents carried by monovalent cations through calcium channels in mouse neoplastic B lymphocytes. J Physiol (1985) 3.69

Distribution of allelic frequencies in a finite population under stepwise production of neutral alleles. Proc Natl Acad Sci U S A (1975) 3.64

On the evolution of multigene families. Theor Popul Biol (1983) 3.61

Population biology of antigen presentation by MHC class I molecules. Science (1996) 3.58

Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr (1981) 3.55

Linkage disequilibrium between two segregating nucleotide sites under the steady flux of mutations in a finite population. Genetics (1971) 3.51

Diverse transcriptional initiation revealed by fine, large-scale mapping of mRNA start sites. EMBO Rep (2001) 3.47

Results of surgical and nonsurgical treatment for small-sized hepatocellular carcinomas: a retrospective and nationwide survey in Japan. The Liver Cancer Study Group of Japan. Hepatology (2000) 3.42

Stepwise mutation model and distribution of allelic frequencies in a finite population. Proc Natl Acad Sci U S A (1978) 3.29

Altered urinary bladder function in mice lacking the vanilloid receptor TRPV1. Nat Neurosci (2002) 3.28

ASC, a novel 22-kDa protein, aggregates during apoptosis of human promyelocytic leukemia HL-60 cells. J Biol Chem (1999) 3.25

Rapid confirmation of single copy lambda prophage integration by PCR. Nucleic Acids Res (1994) 3.19

Genome-wide analysis of gene expression in human hepatocellular carcinomas using cDNA microarray: identification of genes involved in viral carcinogenesis and tumor progression. Cancer Res (2001) 3.18

A high-throughput SNP typing system for genome-wide association studies. J Hum Genet (2001) 3.18

Isolation and mapping of a polymorphic DNA sequence (pTHH22) on chromosome 9 [D9S12]. Nucleic Acids Res (1988) 3.17

IL-6 is produced by osteoblasts and induces bone resorption. J Immunol (1990) 3.14

Gene organization deduced from the complete sequence of liverwort Marchantia polymorpha mitochondrial DNA. A primitive form of plant mitochondrial genome. J Mol Biol (1992) 3.11

Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. Am J Hum Genet (1988) 2.97

Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature (1988) 2.96

Stem-loop binding protein, the protein that binds the 3' end of histone mRNA, is cell cycle regulated by both translational and posttranslational mechanisms. Mol Cell Biol (2000) 2.90

A tripeptide 'anticodon' deciphers stop codons in messenger RNA. Nature (2000) 2.90

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. Nat Genet (1996) 2.89

Localisation of atopy and beta subunit of high-affinity IgE receptor (Fc epsilon RI) on chromosome 11q. Lancet (1993) 2.88

Peptidoglycan synthetic activities in membranes of Escherichia coli caused by overproduction of penicillin-binding protein 2 and rodA protein. J Biol Chem (1986) 2.84

Specific deficit of the ON response in visual transmission by targeted disruption of the mGluR6 gene. Cell (1995) 2.81

A mapped set of genetic markers for human chromosome 9. Genomics (1988) 2.80

Mutation and evolution at the molecular level. Genetics (1973) 2.79

Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet (1990) 2.77

Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. Nat Genet (1998) 2.77

Experimental investigation of geologically produced antineutrinos with KamLAND. Nature (2005) 2.75

Blocking kinetics of the anomalous potassium rectifier of tunicate egg studied by single channel recording. J Physiol (1982) 2.74

Allelic and nonallelic homology of a supergene family. Proc Natl Acad Sci U S A (1982) 2.72

Polymorphic human glucose transporter gene (GLUT) is on chromosome 1p31.3----p35. Diabetes (1987) 2.72

Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res (1992) 2.72

A primary genetic linkage map for human chromosome 12. Genomics (1987) 2.72

Rad52 forms ring structures and co-operates with RPA in single-strand DNA annealing. Genes Cells (1998) 2.66

Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study. Eur J Pediatr (1995) 2.66

Requirement of CD9 on the egg plasma membrane for fertilization. Science (2000) 2.65

Enhanced expression of a glyceraldehyde-3-phosphate dehydrogenase gene in human lung cancers. Cancer Res (1987) 2.65

Complete structure of the chloroplast genome of Arabidopsis thaliana. DNA Res (1999) 2.63

Mutations of the APC (adenomatous polyposis coli) gene. Hum Mutat (1993) 2.63

A new mutation, aly, that induces a generalized lack of lymph nodes accompanied by immunodeficiency in mice. Eur J Immunol (1994) 2.62

Impairment of suckling response, trigeminal neuronal pattern formation, and hippocampal LTD in NMDA receptor epsilon 2 subunit mutant mice. Neuron (1996) 2.62

Purification and characterization of the human interleukin-18 receptor. J Biol Chem (1997) 2.58

Allelotype of breast cancer: cumulative allele losses promote tumor progression in primary breast cancer. Cancer Res (1990) 2.57

Extracellular ATP or ADP induce chemotaxis of cultured microglia through Gi/o-coupled P2Y receptors. J Neurosci (2001) 2.54

A radiation hybrid map of the rat genome containing 5,255 markers. Nat Genet (1999) 2.54

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. Neurology (2009) 2.53

Simulating evolution by gene duplication. Genetics (1987) 2.52

Association studies of 33 single nucleotide polymorphisms (SNPs) in 29 candidate genes for bronchial asthma: positive association a T924C polymorphism in the thromboxane A2 receptor gene. Hum Genet (2000) 2.50

p53DINP1, a p53-inducible gene, regulates p53-dependent apoptosis. Mol Cell (2001) 2.47

Helium-3 emission related to volcanic activity. Science (1984) 2.43

Activation of the beta-catenin gene in primary hepatocellular carcinomas by somatic alterations involving exon 3. Cancer Res (1998) 2.42

Liver tumor promotion by the cyanobacterial cyclic peptide toxin microcystin-LR. J Cancer Res Clin Oncol (1992) 2.40

Loss of imprinting of the insulin-like growth factor II gene occurs by biallelic methylation in a core region of H19-associated CTCF-binding sites in colorectal cancer. Proc Natl Acad Sci U S A (2000) 2.38

Musashi1: an evolutionally conserved marker for CNS progenitor cells including neural stem cells. Dev Neurosci (2000) 2.36

Human laminin B1 chain. A multidomain protein with gene (LAMB1) locus in the q22 region of chromosome 7. J Biol Chem (1987) 2.36

Mosaic and polymorphic imprinting of the WT1 gene in humans. Nat Genet (1994) 2.35