欧文原著(2017)

2017年8月8日

 

欧文原著 

2017

 

Kohmoto T, Masuda K, Naruto T, Tange S, Shoda K, Hamada J, Saito M, Ichikawa D, Tajima A, Otsuji E, Imoto I*.

Construction of a combinatorial pipeline using two somatic variant calling methods for whole exome sequence data of gastric cancer.

J Med Invest (in press)

 

Okada A, Kohmoto T, Naruto T, Yokota I, Kotani Y, Shimada A, Miyamoto Y, Takahashi R, Goji A, Masuda K, Kagami S, Imoto I*.

The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection.

Hum Genome Var(2017)4,17031;doi10.1038/hgv/2017.37;

 

Nishi A, Numata S, Tajima A, Zhu X, Ito K, Saito A, Kato Y, Kinoshita M, Shimodera S, Ono S, Ochi S, Imamura A, Kurotaki N, Ueno SI, Iwata N, Fukui K, Imoto I, Kamiya A, Ohmori T.

De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.

Sci Rep. 2017;7(1):2887. doi: 10.1038/s41598-017-02792-z.

 

Yoshimaru T, Ono M, Bando Y, Chen YA, Mizuguchi K, Komatsu M, Shima H, Imoto I, Izumi K, Honda J, Miyoshi Y, Sasa M, Katagiri T.

A-kinase anchoring protein BIG3 coordinates oestrogen signaling in breast cancer cells.

Nat Commun 2017;8:15427. doi: 10.1038/ncomms15427

 

Kohmoto T, Okamoto N, Naruto T, Murata C, Ouchi Y, Fujita N, Inagaki H, Satomura S, Okamoto N, Saito M, Masuda K, Kurahashi H, Imoto I*.

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.

Mol Cytogenet. 2017;10:15. doi: 10.1186/s13039-017-0316-6.

 

Sato Y, Tajima A, Katsurayama M, Nozawa S, Yoshiike M, Koh E, Kanaya J, Namiki M, Matsumiya K, Tsujimura A, Komatsu K, Itoh N, Eguchi J, Imoto I, Yamauchi A, Iwamoto T.

An independent validation study of three single nucleotide polymorphisms at the sex hormone-binding globulin locus for testosterone levels identified by genome-wide association studies.

Hum Reprod Open, 2017: hox002. Doi. 10.193/hropen/hox002 

 

Matsudate Y, Naruto T, Hayashi Y, Minami M, Tohyama M, Yokota K, Yamada D, Imoto I, Kubo Y.

Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome.

J Dermatol Sci201786(3):206-211. doi: 10.1016/j.jdermsci.2017.02.282. [Epub ahead of print]

 

Shoda K, Ichikawa D, Fujita Y, Masuda K, Hiramoto H, Hamada J, Arita T, Konishi H, Kosuga T, Komatsu S, Shinozaki A, Okamoto K, Imoto I*, Otsuji E.

Clinical utility of circulating cell-free Epstein–Barr virus DNA in patients with gastric cancer.

Oncotarget 2017;8(17):28796-28804. doi: 10.18632/oncotarget.15675.

 

Kohmoto T, Naruto T, Watanabe M, Fujita Y, Ujiro S, Okamoto N, Horikawa H, Masuda K, Imoto I*.

A 590 Kb Deletion Caused by Non-allelic Homologous Recombination between Two LINE-1 Elements in a Patient with Mesomelia-synostosis Syndrome.

Am J Med Genet A 2017;173(4):1082-1086. doi: 10.1002/ajmg.a.38122.

 

Shoda K, Ichikawa D, Fujita Y, Masuda K, Hiramoto H, Hamada J, Arita T, Konishi H, Komatsu S, Shinozaki A, Kakihara N, Okamoto K, Taniguchi H, Imoto I*, Otsuji E.

Monitoring the HER2 copy number status in circulating tumor DNA by droplet digital PCR in patients with gastric

cancer. Gastric Cancer. 2017;20:126-135. doi. 10.1007/s10120-016-0599-z.

 

Kajiura K, Masuda K, Naruto T, Kohmoto T, Watanabe M, Tsuboi M, Takizawa H, Kondo K, Akira Tangoku A, Imoto I*.

Frequent silencing of the candidate tumor suppressor TRIM58 by promoter methylation in early-stage lung adenocarcinoma.

Oncotarget; 2017;8(2):2890-2905. doi:

10.18632/oncotarget.13761.

 

Okamoto N, Watanabe M, Naruto T, Matsuda K, Kohmoto T, Saito M, Masuda K, Imoto I*.

Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection.

Hum Genome Var 2017;4:16045

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