Ken Inoue

Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain (2008)

Inoue, Ken, Ohyama, Tomoko, Sakuragi, Yosuke, Yamamoto, Ryoko, Inoue, Naoko A., Yu, Li-Hua, ...

Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain (2007)

Inoue, Ken, Ohyama, Tomoko, Sakuragi, Yosuke, Yamamoto, Ryoko, Inoue, Naoko A., Li-Hua, Yu, ...

Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) is a complex neurocristopathy caused by SOX10 mutations. Most...

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease (2006)

Lee, Jennifer A., Inoue, Ken, Cheung, Sau W., Shaw, Chad A., Stankiewicz, Pawel, Lupski, James R.

Genomic architecture, higher order structural features of the human genome, can provide molecular substrates for recurrent sub-microscopic chromosomal rearrangements, or may result in genomic...

Role of Genomic Architecture in PLP1 Duplication Causing Pelizaeus-Merzbacher Disease (2006)

Lee, Jennifer A., Inoue, Ken, Cheung, Sau W., Shaw, Chad A., Stankiewicz, Pawel, Lupski, James R.

Genomic architecture, higher order structural features of the human genome, can provide molecular substrates for recurrent submicroscopic chromosomal rearrangements, or may result in genomic...

Serial segmental duplications during primate evolution result in complex human genome architecture (2004)

Stankiewicz, Pawel, Shaw, Christine J., Withers, Marjorie, Inoue, Ken, Lupski, James R.

The human genome is particularly rich in low-copy repeats (LCRs) or segmental duplications (5%–10%), and this characteristic likely distinguishes us from lower mammals such as rodents. How and why...

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse (2002)

Yan, Jiong, Stankiewicz, Pawe, Park, Sung-Sup, Walz, Katherina, Boerkoel, Cornelius F, ...

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with behavioral abnormalities and sleep disturbance. Most patients have the same approximately 4...

Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse (2002)

Bi, Weimin, Yan, Jiong, Stankiewicz, Pawel, Park, Sung-Sup, Walz, Katherina, Boerkoel, Cornelius F., ...

The 1.4-Mb CMT1A Duplication/HNPP Deletion Genomic Region Reveals Unique Genome Architectural Features and Provides Insights into the Recent Evolution of New Genes (2001)

Inoue, Ken, Dewar, Ken, Katsanis, Nicholas, Reiter, Lawrence T., Lander, Eric S., Devon, Keri L., ...

The Evolutionary Chromosome Translocation 4;19 in Gorilla gorilla is Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Proximal CMT1A-REP (2001)

Stankiewicz, Pawel, Park, Sung-Sup, Inoue, Ken, Lupski, James R.

Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

Bi, Weimin, Yan, Jiong, Stankiewicz, Paweł, Park, Sung-Sup, Walz, Katherina, Boerkoel, Cornelius F., ...

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with behavioral abnormalities and sleep disturbance. Most patients have the same ∼4 Mb...

The 1.4-Mb CMT1A Duplication/HNPP Deletion Genomic Region Reveals Unique Genome Architectural Features and Provides Insights into the Recent Evolution of New Genes

Inoue, Ken, Dewar, Ken, Katsanis, Nicholas, Reiter, Lawrence T., Lander, Eric S., Devon, Keri L., ...

Duplication and deletion of the 1.4-Mb region in 17p12 that is delimited by two 24-kb low copy number repeats (CMT1A–REPs) represent frequent genomic rearrangements resulting in two common...

The Evolutionary Chromosome Translocation 4;19 in Gorilla gorilla is Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Proximal CMT1A-REP

Stankiewicz, Pawel, Park, Sung-Sup, Inoue, Ken, Lupski, James R.

Many genomic disorders occur as a result of chromosome rearrangements involving low-copy repeats (LCRs). To better understand the molecular basis of chromosome rearrangements, including...

Serial segmental duplications during primate evolution result in complex human genome architecture

Stankiewicz, Paweł, Shaw, Christine J., Withers, Marjorie, Inoue, Ken, Lupski, James R.

The human genome is particularly rich in low-copy repeats (LCRs) or segmental duplications (5%–10%), and this characteristic likely distinguishes us from lower mammals such as rodents. How and why...

Effect of Truncal Vagotomy on Sphincter of Oddi Cyclic Motility in Conscious Dogs

Nabae, Toshinaga, Yokohata, Kazunori, Otsuka, Takao, Inoue, Ken, Yamaguchi, Koji, Chijiiwa, Kazuo, ...

Curcumin Treatment Abrogates Endoplasmic Reticulum Retention and Aggregation-Induced Apoptosis Associated with Neuropathy-Causing Myelin Protein Zero–Truncating Mutants

Khajavi, Mehrdad, Inoue, Ken, Wiszniewski, Wojciech, Ohyama, Tomoko, Snipes, G. Jackson, Lupski, James R.

Mutations in MPZ, the gene encoding myelin protein zero (MPZ), the major protein constituent of peripheral myelin, can cause the adult-onset, inherited neuropathy Charcot-Marie-Tooth disease, as well...

富士山麓における野島式期縄文土器の様相

井上, 賢, イノウエ, ケン, Inoue, Ken

縄文時代早期後半の野島式期における縄文土器広域編年網の構築を推進する上で、富士山麓周辺、中でも駿河湾や相模湾に面した静岡県東部の駿豆�...

富士山麓における野島式期縄文土器の様相

井上, 賢, イノウエ, ケン, Inoue, Ken

縄文時代早期後半の野島式期における縄文土器広域編年網の構築を推進する上で、富士山麓周辺、中でも駿河湾や相模湾に面した静岡県東部の駿豆�...

Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

Bi, Weimin, Yan, Jiong, Stankiewicz, Paweł, Park, Sung-Sup, Walz, Katherina, Boerkoel, Cornelius F., ...

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with behavioral abnormalities and sleep disturbance. Most patients have the same ∼4 Mb...

The 1.4-Mb CMT1A Duplication/HNPP Deletion Genomic Region Reveals Unique Genome Architectural Features and Provides Insights into the Recent Evolution of New Genes

Inoue, Ken, Dewar, Ken, Katsanis, Nicholas, Reiter, Lawrence T., Lander, Eric S., Devon, Keri L., ...

Duplication and deletion of the 1.4-Mb region in 17p12 that is delimited by two 24-kb low copy number repeats (CMT1A–REPs) represent frequent genomic rearrangements resulting in two common...

The Evolutionary Chromosome Translocation 4;19 in Gorilla gorilla is Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Proximal CMT1A-REP

Stankiewicz, Pawel, Park, Sung-Sup, Inoue, Ken, Lupski, James R.

Many genomic disorders occur as a result of chromosome rearrangements involving low-copy repeats (LCRs). To better understand the molecular basis of chromosome rearrangements, including...

Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females

Inoue, Ken, Osaka, Hitoshi, Thurston, Virginia C., Clarke, Joe T. R., Yoneyama, Akira, Rosenbarker, Lisa, ...

In the majority of patients with Pelizaeus-Merzbacher disease, duplication of the proteolipid protein gene PLP1 is responsible, whereas deletion of PLP1 is infrequent. Genomic mechanisms for these...

Serial segmental duplications during primate evolution result in complex human genome architecture

Stankiewicz, Paweł, Shaw, Christine J., Withers, Marjorie, Inoue, Ken, Lupski, James R.

The human genome is particularly rich in low-copy repeats (LCRs) or segmental duplications (5%–10%), and this characteristic likely distinguishes us from lower mammals such as rodents. How and why...

Curcumin Treatment Abrogates Endoplasmic Reticulum Retention and Aggregation-Induced Apoptosis Associated with Neuropathy-Causing Myelin Protein Zero–Truncating Mutants

Khajavi, Mehrdad, Inoue, Ken, Wiszniewski, Wojciech, Ohyama, Tomoko, Snipes, G. Jackson, Lupski, James R.

Mutations in MPZ, the gene encoding myelin protein zero (MPZ), the major protein constituent of peripheral myelin, can cause the adult-onset, inherited neuropathy Charcot-Marie-Tooth disease, as well...

Effect of Truncal Vagotomy on Sphincter of Oddi Cyclic Motility in Conscious Dogs

Nabae, Toshinaga, Yokohata, Kazunori, Otsuka, Takao, Inoue, Ken, Yamaguchi, Koji, Chijiiwa, Kazuo, ...

富士山麓における野島式期縄文土器の様相

井上, 賢, イノウエ, ケン, Inoue, Ken

縄文時代早期後半の野島式期における縄文土器広域編年網の構築を推進する上で、富士山麓周辺、中でも駿河湾や相模湾に面した静岡県東部の駿豆�...

Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

Hirano, Ryuki, Interthal, Heidrun, Huang, Cheng, Nakamura, Tomonori, Deguchi, Kimiko, Choi, Kunho, ...

Tyrosyl-DNA phosphodiesterase 1 (Tdp1) cleaves the phosphodiester bond between a covalently stalled topoisomerase I (Topo I) and the 3′ end of DNA. Stalling of Topo I at DNA strand breaks is...