Author details

Full Name

Nori Matsunami

Affiliation

ORCID

Career Start Year

1981

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
29570242	Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia.	Birth Defects Res	2018
28138427	Multivariate characterization of white matter heterogeneity in autism spectrum disorder.	Neuroimage Clin	2017
28681861	A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.	Nat Commun	2017
28250457	Genome-wide analyses identify common variants associated with macular telangiectasia type 2.	Nat Genet	2017
27867939	A Rare Variant in <i>CACNA1D</i> Segregates with 7 Bipolar I Disorder Cases in a Large Pedigree.	Mol Neuropsychiatry	2016
27603779	Demonstration of Protein-Based Human Identification Using the Hair Shaft Proteome.	PLoS One	2016
26284702	Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.	Am J Med Genet A	2015
24467814	Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.	Mol Autism	2014
23341896	Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.	PLoS One	2013
23165927	A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.	Am J Med Genet A	2012
22337856	Exome analysis of a family with pleiotropic congenital heart disease.	Circ Cardiovasc Genet	2012
22039568	C21orf91 genotypes correlate with herpes simplex labialis (cold sore) frequency: description of a cold sore susceptibility gene.	J Infect Dis	2011
20668468	Carriers of rare missense variants in IFIH1 are protected from psoriasis.	J Invest Dermatol	2010
18283277	A high-density SNP genome-wide linkage scan in a large autism extended pedigree.	Mol Psychiatry	2009
19436041	Human neuronal acetylcholine receptor A5-A3-B4 haplotypes are associated with multiple nicotine dependence phenotypes.	Nicotine Tob Res	2009
18923449	Further genetic evidence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22.	J Invest Dermatol	2009
18063416	American founder mutation for attenuated familial adenomatous polyposis.	Clin Gastroenterol Hepatol	2008
18618000	A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction.	PLoS Genet	2008
18614543	The 5q31 variants associated with psoriasis and Crohn's disease are distinct.	Hum Mol Genet	2008
18650833	Detailed genetic characterization of the interleukin-23 receptor in psoriasis.	Genes Immun	2008
18075513	Variants in the 5q31 cytokine gene cluster are associated with psoriasis.	Genes Immun	2008
18313024	Neuropathy target esterase gene mutations cause motor neuron disease.	Am J Hum Genet	2008
17236132	A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.	Am J Hum Genet	2007
16391490	Evidence for linkage on chromosome 3q25-27 in a large autism extended pedigree.	Hum Hered	2005
14706645	Targeted degradation of beta-catenin by chimeric F-box fusion proteins.	Biochemical and Biophysical Research Communications	2004
11389840	Siah-1 mediates a novel beta-catenin degradation pathway linking p53 to the adenomatous polyposis coli protein.	Molecular Cell	2001
11156401	Inhibition of topoisomerase IIalpha expression by transforming growth factor-beta1 is abrogated by the papillomavirus E7 protein.	Cancer Research	2000
11027532	TGF-beta1 inhibits BRCA1 expression through a pathway that requires pRb.	Biochemical and Biophysical Research Communications	2000
10626787	E7-transduced human breast epithelial cells show partial differentiation in three-dimensional culture.	Cancer Res	1999
9989801	Persistent transgene expression and normal differentiation of immortalized human keratinocytes in vivo.	Journal of Investigative Dermatology	1999
8528208	The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells.	Hum Mol Genet	1995
8187087	Demonstration of promoter activity and alternative splicing in the region 5' to exon 1 of the APC gene.	Cancer Research	1994
8152928	Recognition sequence of a highly conserved DNA binding protein RBP-J kappa.	Nucleic Acids Research	1994
7834219	Physical and genetic mapping of human chromosome 3 loci containing microsatellite repeats.	Chromosome Res	1994
8116622	A radiation hybrid map of the BRCA1 region.	Am J Hum Genet	1994
8422677	DNA deletion associated with hereditary neuropathy with liability to pressure palsies.	Cell	1993
8432550	An extended genetic linkage map and an "index" map for human chromosome 17.	Genomics	1993
8307557	A somatic cell hybrid map of human chromosome 13.	Genomics	1993
8406481	Human Jk recombination signal binding protein gene (IGKJRB): comparison with its mouse homologue.	Genomics	1993
1407588	Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus.	Neurology	1992
1303231	Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.	Nat Genet	1992
1740450	Genomic organization of mouse J kappa recombination signal binding protein (RBP-J kappa) gene.	J Biol Chem	1992
1461382	Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A.	Neurology	1992
1429518	Biochemical and immunological characterization of the DNA binding protein (RBP-J kappa) to mouse J kappa recombination signal sequence.	Journal of Biochemistry	1992
1744127	The Drosophila RBP-J kappa gene encodes the binding protein for the immunoglobulin J kappa recombination signal sequence.	Journal of Biological Chemistry	1991
2556644	A protein binding to the J kappa recombination sequence of immunoglobulin genes contains a sequence related to the integrase motif.	Nature	1989
2511556	Purification and characterization of a protein that binds to the recombination signal sequence of the immunoglobulin J kappa segment.	Nucleic Acids Research	1989
3031040	The human IL-2 receptor gene contains a positive regulatory element that functions in cultured cells and cell-free extracts.	Journal of Biological Chemistry	1987
3107885	Interleukin-2 receptor: structure, function, and expression.	Cold Spring Harbor Symposia on Quantitative Biology	1986
3014437	Preferential transcription of HTLV-I LTR in cell-free extracts of human T cells producing HTLV-I viral proteins.	Nucleic Acids Research	1986