K. Shibuya

发表

The DNA sequence of human chromosome 22

Melanie E. Goward, Antony V. Cox, R. Durbin, 1999, Nature.

The DNA sequence of human chromosome 21

M. Hattori, T. Takagi, Y. Sakaki, 2000, Nature.

A physical map of the human genome

D. Haussler, B. Trask, R. Wilson, 2001, Nature.

Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence

S. Antonarakis, K. Kawasaki, S. Minoshima, 1998, Human Genetics.

Evolutionary dynamics of the human immunoglobulin kappa locus and the germline repertoire of the Vkappa genes.

N. Shimizu, K. Kawasaki, S. Minoshima, 2001, European journal of immunology.

Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains

S. Antonarakis, R. Lyle, K. Kawasaki, 2001, Human Genetics.

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency

K. Kawasaki, S. Minoshima, N. Shimizu, 2001, Human Genetics.

Evolutionary dynamics of the human immunoglobulin κ locus and the germline repertoire of the Vκ genes

N. Shimizu, K. Kawasaki, S. Minoshima, 2001 .

One-megabase sequence analysis of the human immunoglobulin lambda gene locus.

S Minoshima, N. Shimizu, K. Kawasaki, 1997, Genome research.

The DNA sequence of human chromosome 21 The chromosome 21 mapping and sequencing consortium

M. Hattori, Y. Sakaki, S. Antonarakis, 2000 .

Detailed mapping of the ERG-ETS2 interval of human chromosome 21 and comparison with the region of conserved synteny on mouse chromosome 16.

I. Kola, N. Shimizu, J. Kudoh, 2004, Gene.

A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3.

Shinsei Minoshima, Kazunori Shibuya, Shuichi Asakawa, 2004, Genomics.

Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

Shinsei Minoshima, Stylianos E. Antonarakis, Kazunori Shibuya, 2001, Nature Genetics.

Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein.

S Minoshima, S. Antonarakis, N. Shimizu, 2000, Genomics.

Initial characterization of an uromodulin-like 1 gene on human chromosome 21q22.3.

S. Minoshima, N. Shimizu, J. Kudoh, 2004, Biochemical and biophysical research communications.

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.

A. Reymond, S. Antonarakis, N. Shimizu, 2002, Human molecular genetics.

Identification of a novel zinc finger protein gene (ZNF298) in the GAP2 of human chromosome 21q.

N. Shimizu, J. Kudoh, K. Shibuya, 2005, Biochemical and biophysical research communications.

Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11.

N. Shimizu, J. Kudoh, K. Shibuya, 2004, Biochemical and biophysical research communications.

Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2.

N. Shimizu, K. Kawasaki, S. Minoshima, 2000, Biochemical and biophysical research communications.

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

A. Pandya, S. Antonarakis, J. Kudoh, 2001, Journal of medical genetics.

Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency.

S. Antonarakis, N. Shimizu, K. Kawasaki, 2000, Genomics.

Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region.

S. Antonarakis, N. Shimizu, K. Kawasaki, 2000, Genomics.

C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning.

S. Antonarakis, N. Shimizu, J. Kudoh, 2000, Genomics.

Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family.

S. Antonarakis, N. Shimizu, K. Kawasaki, 2000, Genomics.