Shinsei Minoshima

Genome Informatics 14: 284--285 (2003) MutationView : An Integrated Knowledge Base for (2004)

Masafumi Ohtsubo, Susumu Mitsuyama, Takashi Kawamura, Nobuyoshi Shimizu, Shinsei Minoshima

Introduction One of the important purposes of genome research is to elucidate the nature of genes responsible for monogenic as well as multigenic diseases. In order to better understand correlation...

Integrative Annotation of 21,037 Human Genes Validated by Full-Length cDNA Clones (2004)

Tadashi Imanishi, Takeshi Itoh, Yutaka Suzuki, Claire O'Donovan, Satoshi Fukuchi, Kanako O. Koyanagi, ...

An international team has systematically validated and annotated just over 21,000 human genes using full-length cDNA, thereby providing a valuable new resource for the human genetics community.

Integrative Annotation of 21,037 Human Genes Validated by Full-Length cDNA Clones (2004)

Tadashi Imanishi, Takeshi Itoh, Yutaka Suzuki, Claire O'Donovan, Satoshi Fukuchi, Kanako O. Koyanagi, ...

The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this...

A New Version of the KMDB/MutationView: A Keio Mutation Database for Human Disease Genes (2001)

Shinsei Minoshima, Susumu Mitsuyama, Masafumi Ohtsubo, Takashi Kawamura, Sayumi Shibamoto, Nobuyoshi Shimizu

Introduction We previously developed the KMDB for mutation data in human disease-causing genes using a database software called MutationView which was designed to serve as a distributed database...

KMeyeDB: Keio Mutation Database for Eye Disease Genes Constructed on a Graphical Distributed Database System (1998)

Shinsei Minoshima, Susumu Mitsuyama, Saho Ohno, Takashi Kawamura, Nobuyoshi Shimizu

formation can be retrieved for each disease with hyperlink. (iv) For the gene selected, the genomic and cDNA structures are graphically shown and various mutations are located on appropriate...

Expression Frequency of the Human Immunoglobulin (1998)

Taku Okada, Masaru Tomita, Kazuhiko Kawasaki, Shinsei Minoshima, Nobuyoshi Shimizu

Introduction The recombination signal sequences (RSS) is the essential element for the immunoglobulin gene rearrangement. The RSS consists of 3 elements: heptamer (7mer), 12-bp or 23-bp spacer, and...

Expression Frequency of the Human Immunoglobulin (1998)

Taku Okada, Masaru Tomita, Kazuhiko Kawasaki, Shinsei Minoshima, Nobuyoshi Shimizu

Introduction The recombination signal sequences (RSS) is the essential element for the immunoglobulin gene rearrangement. The RSS consists of 3 elements: heptamer (7mer), 12-bp or 23-bp spacer, and...

Hox cluster genomics in the horn shark, Heterodontus francisci

Kim, Chang-Bae, Amemiya, Chris, Bailey, Wendy, Kawasaki, Kazuhiko, Mezey, Jason, Miller, Webb, ...

Reconstructing the evolutionary history of Hox cluster origins will lead to insights into the developmental and evolutionary significance of Hox gene clusters in vertebrate phylogeny and to their...

The KMDB/MutationView: a mutation database for human disease genes

Minoshima, Shinsei, Mitsuyama, Susumu, Ohtsubo, Masafumi, Kawamura, Takashi, Ito, Sachiko, Shibamoto, Sayumi, ...

The KMDB/MutationView is a graphical database of mutations in human disease-causing genes and its current version consists of nine category-based sub-databases including diseases of eye, heart, ear,...

Keio Mutation Database (KMDB) for human disease gene mutations

Minoshima, Shinsei, Mitsuyama, Susumu, Ohno, Saho, Kawamura, Takashi, Shimizu, Nobuyoshi

A database of mutations in human disease-causing genes has been constructed and named as Keio Mutation Database (KMDB). This KMDB utilizes a database software called MutationView which was designed...

Cloning of Two Human Homologs of the Drosophila single-minded Gene SIM1 on Chromosome 6q and SIM2 on 21q Within the Down Syndrome Chromosomal Region

Chrast, Roman, Scott, Hamish S., Chen, Haiming, Kudoh, Jun, Rossier, Colette, Minoshima, Shinsei, ...

As part of our effort to clone genes of human chromosome 21 that may contribute to Down syndrome, we have previously isolated four exons with homology to Drosophila single-minded (sim) gene, which...

A SNP Resource for Human Chromosome 22: Extracting Dense Clusters of SNPs From the Genomic Sequence

Dawson, Elisabeth, Chen, Yuan, Hunt, Sarah, Smink, Luc J., Hunt, Adrienne, Rice, Kate, ...

The recent publication of the complete sequence of human chromosome 22 provides a platform from which to investigate genomic sequence variation. We report the identification and characterization of...

Analysis of the Cat Eye Syndrome Critical Region in Humans and the Region of Conserved Synteny in Mice: A Search for Candidate Genes at or near the Human Chromosome 22 Pericentromere

Footz, Tim K., Brinkman-Mills, Polly, Banting, Graham S., Maier, Stephanie A., Riazi, M. Ali, Bridgland, Lindsay, ...

We have sequenced a 1.1-Mb region of human chromosome 22q containing the dosage-sensitive gene(s) responsible for cat eye syndrome (CES) as well as the 450-kb homologous region on mouse chromosome 6....

Integrative Annotation of 21,037 Human Genes Validated by Full-Length cDNA Clones

Imanishi, Tadashi, Itoh, Takeshi, Suzuki, Yutaka, O'Donovan, Claire, Fukuchi, Satoshi, Koyanagi, Kanako O, ...

The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this...

Interarm Interaction of DNA Cruciform Forming at a Short Inverted Repeat Sequence

Kato, Mikio, Hokabe, Shingo, Itakura, Shuji, Minoshima, Shinsei, Lyubchenko, Yuri L., Gurkov, Theodor D., ...

A novel interarm interaction of DNA cruciform forming at inverted repeat sequence was characterized using an S1 nuclease digestion, permanganate oxidation, and microscopic imaging. An inverted repeat...

The Human Ribosomal Protein Genes: Sequencing and Comparative Analysis of 73 Genes

Yoshihama, Maki, Uechi, Tamayo, Asakawa, Shuichi, Kawasaki, Kazuhiko, Kato, Seishi, Higa, Sayomi, ...

The ribosome, as a catalyst for protein synthesis, is universal and essential for all organisms. Here we describe the structure of the genes encoding human ribosomal proteins (RPs) and compare this...

Hox cluster genomics in the horn shark, Heterodontus francisci

Kim, Chang-Bae, Amemiya, Chris, Bailey, Wendy, Kawasaki, Kazuhiko, Mezey, Jason, Miller, Webb, ...

Reconstructing the evolutionary history of Hox cluster origins will lead to insights into the developmental and evolutionary significance of Hox gene clusters in vertebrate phylogeny and to their...

The KMDB/MutationView: a mutation database for human disease genes

Minoshima, Shinsei, Mitsuyama, Susumu, Ohtsubo, Masafumi, Kawamura, Takashi, Ito, Sachiko, Shibamoto, Sayumi, ...

The KMDB/MutationView is a graphical database of mutations in human disease-causing genes and its current version consists of nine category-based sub-databases including diseases of eye, heart, ear,...

Keio Mutation Database (KMDB) for human disease gene mutations

Minoshima, Shinsei, Mitsuyama, Susumu, Ohno, Saho, Kawamura, Takashi, Shimizu, Nobuyoshi

A database of mutations in human disease-causing genes has been constructed and named as Keio Mutation Database (KMDB). This KMDB utilizes a database software called MutationView which was designed...

The Human Ribosomal Protein Genes: Sequencing and Comparative Analysis of 73 Genes

Yoshihama, Maki, Uechi, Tamayo, Asakawa, Shuichi, Kawasaki, Kazuhiko, Kato, Seishi, Higa, Sayomi, ...

The ribosome, as a catalyst for protein synthesis, is universal and essential for all organisms. Here we describe the structure of the genes encoding human ribosomal proteins (RPs) and compare this...

Cloning of Two Human Homologs of the Drosophila single-minded Gene SIM1 on Chromosome 6q and SIM2 on 21q Within the Down Syndrome Chromosomal Region

Chrast, Roman, Scott, Hamish S., Chen, Haiming, Kudoh, Jun, Rossier, Colette, Minoshima, Shinsei, ...

As part of our effort to clone genes of human chromosome 21 that may contribute to Down syndrome, we have previously isolated four exons with homology to Drosophila single-minded (sim) gene, which...

A SNP Resource for Human Chromosome 22: Extracting Dense Clusters of SNPs From the Genomic Sequence

Dawson, Elisabeth, Chen, Yuan, Hunt, Sarah, Smink, Luc J., Hunt, Adrienne, Rice, Kate, ...

The recent publication of the complete sequence of human chromosome 22 provides a platform from which to investigate genomic sequence variation. We report the identification and characterization of...

Analysis of the Cat Eye Syndrome Critical Region in Humans and the Region of Conserved Synteny in Mice: A Search for Candidate Genes at or near the Human Chromosome 22 Pericentromere

Footz, Tim K., Brinkman-Mills, Polly, Banting, Graham S., Maier, Stephanie A., Riazi, M. Ali, Bridgland, Lindsay, ...

We have sequenced a 1.1-Mb region of human chromosome 22q containing the dosage-sensitive gene(s) responsible for cat eye syndrome (CES) as well as the 450-kb homologous region on mouse chromosome 6....

Integrative Annotation of 21,037 Human Genes Validated by Full-Length cDNA Clones

Imanishi, Tadashi, Itoh, Takeshi, Suzuki, Yutaka, O'Donovan, Claire, Fukuchi, Satoshi, Koyanagi, Kanako O, ...

The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this...

Interarm Interaction of DNA Cruciform Forming at a Short Inverted Repeat Sequence

Kato, Mikio, Hokabe, Shingo, Itakura, Shuji, Minoshima, Shinsei, Lyubchenko, Yuri L., Gurkov, Theodor D., ...

A novel interarm interaction of DNA cruciform forming at inverted repeat sequence was characterized using an S1 nuclease digestion, permanganate oxidation, and microscopic imaging. An inverted repeat...