Nakano, Motoi, Miwa, Nobutomo, Hirano, Akiyoshi, Yoshiura, Koh-ichiro, Niikawa, Norio
Abstract Background Two types of cerumen occur in humans: the wet type with brownish, sticky earwax, and the dry type with a lack of or reduced ceruminous secretion. The wet type is common in...
Liu, Xiao-Qiang, Uchida, Asuka, Morishita, Kazuhiro, Hayakawa, Mutsuko, ...
PURPOSE: To describe a macrodeletion spanning entire RCC1-like doman in the RPGR gene in one Japanese family with X-linked retinitis pigmentosa (XLRP). METHODS: Clinical ophthalmologic examinations...
Yamasaki, Yoko, Kayashima, Tomohiko, Soejima, Hidenobu, Kinoshita, Akira, Yoshiura, Ko-ichiro, Matsumoto, Naomichi, ...
The mouse insulin-like growth factor II receptor (Igf2r) gene and its antisense transcript Air are reciprocally imprinted in most tissues, but in the brain, Igf2r is biallelically expressed despite...
Kurotaki, Naohiro, Stankiewicz, Pawel, Wakui, Keiko, Niikawa, Norio, Lupski, James R.
Sotos syndrome (Sos) is an overgrowth disorder also characterized clinically by mental retardation, specific craniofacial features and advanced bone age. As NSD1 haploinsufficiency was determined in...
Kurotaki, Naohiro, Stankiewicz, Pawel, Wakui, Keiko, Niikawa, Norio, Lupski, James R.
Sotos syndrome (Sos) is an overgrowth disorder also characterized clinically by mental retardation, specific craniofacial features, and advanced bone age. Since NSD1 haploinsufficiency was determined...
Yamasaki, Yoko, Kayashima, Tomohiko, Soejima, Hidenobu, Kinoshita, Akira, Yoshiura, Ko-ichiro, Matsumoto, Naomichi, ...
The mouse Igf2r gene and its antisense transcript Air are reciprocally imprinted in most tissues, but in the brain, Igf2r is biallelically expressed despite imprinted Air expression. To investigate...
Heterozygous TGFBR2 mutations in Marfan syndrome. (2004)
Mizuguchi, Takeshi, Collod-Beroud, Gwenaëlle, Akiyama, Takushi, Abifadel, Marianne, Harada, Naoki, Morisaki, Takayuki, ...
Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (FBN1) at...
Heterozygous TGFBR2 mutations in Marfan syndrome. (2004)
Mizuguchi, Takeshi, Collod-Beroud, Gwenaëlle, Akiyama, Takushi, Abifadel, Marianne, Harada, Naoki, Morisaki, Takayuki, ...
Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (FBN1) at...
Heterozygous TGFBR2 mutations in Marfan syndrome. (2004)
Mizuguchi, Takeshi, Collod-Beroud, Gwenaëlle, Akiyama, Takushi, Abifadel, Marianne, Harada, Naoki, Morisaki, Takayuki, ...
Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (FBN1) at...
Mitsuya, Kohzoh, Meguro, Makiko, Lee, Maxwell P., Katoh, Motonobu, Schulz, Thomas C., Kugoh, Hiroyuki, ...
Mammalian imprinted genes are frequently arranged in clusters on particular chromosomes. The imprinting cluster on human chromosome 11p15 is associated with Beckwith–Wiedemann syndrome (BWS) and a...
Fujimoto, Masahiro, Matsumoto, Naomichi, Tsujita, Takahiro, Tomita, Hiroaki, Kondo, Shinji, Miyake, Noriko, ...
The gene, DNAPKcs (XRCC7), for the human DNA-dependent protein kinase catalytic subunit (DNAPKcs) is a strong candidate that complements a severe combined immunodeciency (scid) and hypersensitivity...
Isolation and characterization of a novel gene deleted in DiGeorge syndrome (1995)
Kurahashi, Hiroki, Akagi, Kenzo, Inazawa, Johji, Ohta, Tohru, Niikawa, Norio, Kayatani, Futoshi, ...
The region commonly deleted in DiGeorge syndrome (DGS) has been localized at 22q11.1–q11.2 with the aid of a high resolution banding technique. A 22q11 specific plasmid library was constructed with...
Population variation in the dinucleotide repeat polymorphism at the D8S360 locus (1993)
Kamino, Kouzin, Nakura, Jun, Kihara, Koichi, Ye, Lin, Nagano, Keiko, Ohta, Tohru, ...
Ihara, Yoshito, Nishikawa, Atsushi, Tohma, Takaya, Soejima, Hidenobu, Niikawa, Norio, Taniguchi, Naoyuki
UDP-N-acetylglucosamine:β-D-mannoside β1,4 N-acetylglucosaminyltransferase III (GnT-III) [EC 2.4.1.144] catalyzes the addition of N-acetylglucosamine in β1–4 linkage to the β-linked mannose of...
Jinno, Yoshlhlro, Harada, Naoki, Yoshiura, Koh-ichiro, Ohta, Tohru, Tohma, Takaya, Hirota, Tetsuya, ...
An alternative method for amplification of DNA with unknown sequences was developed. This involves the direct ligation of a primer oligodeoxyribonucleotide itself to restricted DNA fragments with...
Tsukamoto, Kazuhiro, Tohma, Takaya, Ohta, Tohru, Yamakawa, Kazuhiro, Fukushima, Yoshimitsu, Nakamura, Yusuke, ...
We described cloning and characterization of an inversion breakpoint of chromosome 2 inv(2)(q35q37.3) observed in a patient with Waardenbrug syndrome type I (WSI) (1). Genomic cosmid clones...
Identification of proacrosin binding protein sp32 precursor as a human cancer/testis antigen
Ono, Toshiro, Kurashige, Takushi, Harada, Naoki, Noguchi, Yuji, Saika, Takashi, Niikawa, Norio, ...
Serological expression cloning of antigens eliciting a humoral immune response to a syngeneic mouse sarcoma identified pem (mouse placenta and embryonic expression gene) as a new member of the...
Genetic Mapping of the Camurati-Engelmann Disease Locus to Chromosome 19q13.1-q13.3
Ghadami, Mohsen, Makita, Yoshio, Yoshida, Kunihiro, Nishimura, Gen, Fukushima, Yoshimitsu, Wakui, Keiko, ...
Camurati-Engelmann disease (CED [MIM 131300]), or progressive diaphyseal dysplasia, is an autosomal dominant sclerosing bone dysplasia characterized by progressive bone formation along the periosteal...
Paroxysmal Kinesigenic Choreoathetosis Locus Maps to Chromosome 16p11.2-q12.1
Tomita, Hiro-aki, Nagamitsu, Shinichiro, Wakui, Keiko, Fukushima, Yoshimitsu, Yamada, Koki, Sadamatsu, Miyuki, ...
Paroxysmal kinesigenic choreoathetosis (PKC), the most frequently described type of paroxysmal dyskinesia, is characterized by recurrent, brief attacks of involuntary movements induced by sudden...
Identification of proacrosin binding protein sp32 precursor as a human cancer/testis antigen
Ono, Toshiro, Kurashige, Takushi, Harada, Naoki, Noguchi, Yuji, Saika, Takashi, Niikawa, Norio, ...
Serological expression cloning of antigens eliciting a humoral immune response to a syngeneic mouse sarcoma identified pem (mouse placenta and embryonic expression gene) as a new member of the...
Miyake, Noriko, Kurotaki, Naohiro, Sugawara, Hirobumi, Shimokawa, Osamu, Harada, Naoki, Kondoh, Tatsuro, ...
Sotos syndrome (SoS) is characterized by pre- and postnatal overgrowth with advanced bone age; a dysmorphic face with macrocephaly and pointed chin; large hands and feet; mental retardation; and...
Higashimoto, Ken, Urano, Takeshi, Sugiura, Kazumitsu, Yatsuki, Hitomi, Joh, Keiichiro, Zhao, Wei, ...
To clarify the chromatin-based imprinting mechanism of the p57KIP2/LIT1 subdomain at chromosome 11p15.5 and the mouse ortholog at chromosome 7F5, we investigated the histone-modification status at a...
Visser, Remco, Shimokawa, Osamu, Harada, Naoki, Kinoshita, Akira, Ohta, Tohru, Niikawa, Norio, ...
Sotos syndrome (SoS) is a congenital dysmorphic disorder characterized by overgrowth in childhood, distinctive craniofacial features, and mental retardation. Haploinsufficiency of the NSD1 gene owing...
Genetic Mapping of the Camurati-Engelmann Disease Locus to Chromosome 19q13.1-q13.3
Ghadami, Mohsen, Makita, Yoshio, Yoshida, Kunihiro, Nishimura, Gen, Fukushima, Yoshimitsu, Wakui, Keiko, ...
Camurati-Engelmann disease (CED [MIM 131300]), or progressive diaphyseal dysplasia, is an autosomal dominant sclerosing bone dysplasia characterized by progressive bone formation along the periosteal...
Paroxysmal Kinesigenic Choreoathetosis Locus Maps to Chromosome 16p11.2-q12.1
Tomita, Hiro-aki, Nagamitsu, Shinichiro, Wakui, Keiko, Fukushima, Yoshimitsu, Yamada, Koki, Sadamatsu, Miyuki, ...
Paroxysmal kinesigenic choreoathetosis (PKC), the most frequently described type of paroxysmal dyskinesia, is characterized by recurrent, brief attacks of involuntary movements induced by sudden...
Yamasaki-Ishizaki, Yoko, Kayashima, Tomohiko, Mapendano, Christophe K., Soejima, Hidenobu, Ohta, Tohru, Masuzaki, Hideaki, ...
Mouse Grb10 is a tissue-specific imprinted gene with promoter-specific expression. In most tissues, Grb10 is expressed exclusively from the major-type promoter of the maternal allele, whereas in the...