Search Results 1-20 of 472

  • A Novel Diagnostic Method for Thyroid Follicular Tumors Based on Immunofluorescence Analysis of p53-Binding Protein 1 Expression: Detection of Genomic Instability

    Otsubo Ryota , Matsuda Katsuya , Mussazhanova Zhanna , Sato Ayako , Matsumoto Megumi , Yano Hiroshi , Oikawa Masahiro , Kondo Hisayoshi , Ito Masahiro , Miyauchi Akira , Hirokawa Mitsuyoshi , Nagayasu Takeshi , Nakashima Masahiro

    … Furthermore, the study clarified the relationship between 53BP1 NF and copy number aberrations (CNAs) based on array comparative genomic hybridization, a hallmark of genomic instability (GIN). … Thus, based on a comparison of these two indicators of GIN, 53BP1 NF (by IF) was better able to estimate the malignancy of FTs compared to CNA (by array comparative genomic hybridization). …

    Thyroid 29(5), 657-665, 2019-05-13

    IR 

  • Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene

    Nakanishi Keita , Okamoto Takayuki , Nozu Kandai , Hara Shigeo , Sato Yasuyuki , Hayashi Asako , Takahashi Toshiyuki , Nagano China , Sakakibara Nana , Horinouchi Tomoko , Fujimura Junya , Minamikawa Shogo , Yamamura Tomohiko , Rossanti Rini , Nagase Hiroaki , Kaito Hiroshi , Ariga Tadashi , Iijima Kazumoto

    Clinical and Experimental Nephrology 23(5), 669-675, 2019-05

    IR 

  • Frequency and clinical features of hearing loss caused by STRC deletions

    Yokota Yoh , Moteki Hideaki , Nishio Shin-ya , Yamaguchi Tomomi , Wakui Keiko , Kobayashi Yumiko , Ohyama Kenji , Miyazaki Hiromitsu , Matsuoka Rina , Abe Satoko , Kumakawa Kozo , Takahashi Masahiro , Sakaguchi Hirofumi , Uehara Natsumi , Ishino Takashi , Kosho Tomoki , Fukushima Yoshimitsu , Usami Shin-ichi

    … For CNV analysis, we employed a specialized method of Ion AmpliSeg(TM) sequencing, and confirmed the CNV results via custom array comparative genomic hybridization. …

    Scientific Reports (9), 4408, 2019-03-13

    IR 

  • Rapidly and Slowly Growing Lineages in Chromosomal Instability-Type Gland-Forming Gastric Carcinomas as Revealed by Multisampling Analysis of DNA Copy-Number Profile.

    Duong Tu Thanh , Vo Diem Thi-Ngoc , Nakayama Takahisa , Mukaisho Ken-ichi , Bamba Masamichi , Nguyen Trung Sao , SUGIHARA Hiroyuki

    … whether gastric carcinoma (GC) with chromosomal instability (CIN-type GC), the largest category in the Cancer Genome Atlas classification, consists of a single genetic lineage, we conducted a multisampling analysis of genomic DNA copy-number profile.We performed array-based comparative genomic hybridization using formalin-fixed paraffin-embedded tissues from 54 gland-forming GCs containing a total of 106 DNA samples from mucosal, extramucosal invasive, and lymph node …

    Pathobiology, 1-10, 2019-01-09

    IR 

  • Clinical manifestations of a sporadic maturity-onset diabetes of the young (MODY) 5 with a whole deletion of <i>HNF1B</i> based on 17q12 microdeletion

    Omura Yoshiyuki , Liu Jianhui , Chujo Daisuke , Fujisaka Shiho , Enya Mayumi , Horikawa Yukio , Tobe Kazuyuki , Yagi Kunimasa , Honoki Hisae , Iwata Minoru , Enkaku Asako , Takikawa Akiko , Kuwano Takahide , Watanabe Yoshiyuki , Nishimura Ayumi

    … gene revealed by multiplex ligation-dependent probe amplification (MLPA) led us to the diagnoses of 17q12 microdeletion syndrome even though there were negative chromosomal analyses with array comparative genomic hybridization (CGH). …

    Endocrine Journal, 2019

    J-STAGE 

  • Partial trisomy 9 (9pter->9q22.1) and partial monosomy 14 (14pter>14q11.2) due to paternal translocation t(9;14)(q22.1;q11.2) in a case of Dysmorphic features

    Dhangar Somprakash , Korgaonkar Seema , Vundinti Babu Rao

    … The proband was confirmed as trisomic for 9pter->9q22.1 and monosomic for 14pter->q11.2 due to paternal t(9;14)(q22.1;q11.2) balanced translocation using a combination of conventional and molecular cytogenetic (fluorescence in situ hybridization, array-comparative genomic hybridization) techniques. …

    Intractable & Rare Diseases Research 8(1), 72-77, 2019

    J-STAGE 

  • Progression Potential of Ductal Carcinoma in situ Assessed by Genomic Copy Number Profiling.

    Kitamura Mina , Nakayama Takahisa , Mukaisho Ken-ichi , MORI Tsuyoshi , UMEDA Tomoko , Moritani Suzuko , Kushima Ryoji , TANI Masaji , SUGIHARA Hiroyuki

    … To treat DCIS appropriately for its progression risk, we classified individual DCIS by its profile of genomic changes into 2 groups and correlated them with clinicopathological progression factors.We used surgically resected, formalin-fixed, paraffin-embedded tissues of 22 DCIS and 30 IDC lesions. …

    Pathobiology, 1-10, 2018-10-17

    IR 

  • Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases

    Nagano China , Nozu Kandai , Morisada Naoya , Yazawa Masahiko , Ichikawa Daisuke , Numasawa Keita , Kourakata Hiroyo , Matsumura Chieko , Tazoe Satoshi , Tanaka Ryojiro , Yamamura Tomohiko , Minamikawa Shogo , Horinouchi Tomoko , Nakanishi Keita , Fujimura Junya , Sakakibara Nana , Nozu Yoshimi , Ye Ming Juan , Kaito Hiroshi , Iijima Kazumoto

    … For such cases, we can apply methods of array-based comparative genomic hybridization (aCGH) or multiplex ligation and probe amplification (MLPA); …

    Clinical and Experimental Nephrology 22(4), 881-888, 2018-08

    IR 

  • Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome

    Unzaki Ai , Morisada Naoya , Nozu Kandai , Juan Ye Ming , Ito Shuichi , Matsunaga Tatsuo , Ishikura Kenji , Ina Shihomi , Nagatani Koji , Okamoto Takayuki , Inaba Yuji , Ito Naoko , Igarashi Toru , Kanda Shoichiro , Ito Ken , Omune Kohei , Iwaki Takuma , Ueno Kazuyuki , Yahata Mayumi , Ohtsuka Yasufumi , Nishi Eriko , Takahashi Nobuya , Ishikawa Tomoaki , Goto Shunsuke , Okamoto Nobuhiko , Iijima Kazumoto

    … Patients clinically diagnosed with BOR syndrome were analyzed by direct sequencing, multiplex ligation-dependent probe amplification (MLPA), array-based comparative genomic hybridization (aCGH), and next-generation sequencing (NGS). …

    Journal of Human Genetics (63), 647–656, 2018-03-02

    IR 

  • Genetic Analysis of Congenital Heart Disease  [in Japanese]

    Kamisago Mitsuhiro

    <p>先天性心疾患の遺伝子異常として,まず染色体の異数性が認識された.その後FISH法やアレイCGH法など,より微細な染色体構造異常を同定する方法が開発されて,微細欠失症候群(22q11.2欠失症候群,Williams症候群など)やゲノムコピー数異常の先天性心疾患への関与が報告されてきた.一方,1990年代後半以降,家系の連鎖解析や染色体転座など染色体上の位置情報をもとに,ある一定の領 …

    Pediatric Cardiology and Cardiac Surgery 34(3), 105-110, 2018

    J-STAGE  Ichushi Web 

  • MET/ERK and MET/JNK Pathway Activation Is Involved in BCR-ABL Inhibitor-resistance in Chronic Myeloid Leukemia  [in Japanese]

    Tsubaki Masanobu

    … To gain insight into <i>BCR-ABL1</i>-independent imatinib resistance mechanisms, we performed an array-based comparative genomic hybridization. …

    YAKUGAKU ZASSHI 138(12), 1461-1466, 2018

    J-STAGE  Ichushi Web 

  • Construction of a BAC library and selection of BACs containing orthologs of <i>Bombyx mori</i> genes in <i>Stenopsyche marmorata</i> (Trichoptera: Stenopsychidae)

    Fujimoto Toshiaki , Okumura Azusa , Yoshido Atsuo , Yasukochi Yuji , Suzuki Go , Sahara Ken

    … These BACs will be used for gene-based comparative mapping by fluorescence <i>in situ</i> … hybridization (FISH) to identify regions of conserved synteny between the trichopteran and lepidopteran genomes.<br> …

    Journal of Insect Biotechnology and Sericology 87(2), 2_061-2_069, 2018

    J-STAGE 

  • Cytogenetic, genomic, and epigenetic characterization of the HSC-3 tongue cell line with lymph node metastasis

    Ribeiro Ilda P. , Rodrigues Joana M. , Mascarenhas Alexandra , Kosyakova Nadezda , Caramelo Francisco , Liehr Thomas , Melo Joana B. , Carreira Isabel M.

    … Herein, we performed a comprehensive genomic and epigenetic characterization of the HSC-3 cell line through karyotyping, multicolor fluorescence in situ hybridization, array comparative genomic hybridization, and methylation-specific multiplex ligation-dependent probe amplification. …

    Journal of Oral Science 60(1), 70-81, 2018

    J-STAGE  Ichushi Web 

  • The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features

    Hanafusa Hiroaki , Morisada Naoya , Ishida Yusuke , Sakata Ryosuke , Morita Keiichi , Miura Shizu , Ye Ming Juan , Yamamoto Toshiyuki , Okamoto Nobuhiko , Nozu Kandai , Iijima Kazumoto

    … The deleted region was identified by array-based comparative genomic hybridization and is the smallest reported for a 20q11.2 microdeletion. …

    Human Genome Variation (4), 17050, 2017-11-30

    IR 

  • Genomic copy number variation analysis in multiple system atrophy

    Hama Yuka , Katsu Masataka , Takigawa Ichigaku , Yabe Ichiro , Matsushima Masaaki , Takahashi Ikuko , Katayama Takayuki , Utsumi Jun , Sasaki Hidenao

    Genomic variation includes single-nucleotide variants, small insertions or deletions (indels), and copy number variants (CNVs). …

    Molecular brain (10), 54, 2017-11-29

    IR 

  • Fenton reaction-induced renal carcinogenesis in Mutyh-deficient mice exhibits less chromosomal aberrations than the rat model

    Li Guang Hua , Akatsuka Shinya , Chew Shan Hwu , Jiang Li , Nishiyama Takahiro , Sakamoto Akihiko , Takahashi Takashi , Futakuchi Mitsuru , Suzuki Hiromu , Sakumi Kunihiko , Nakabeppu Yusaku , Toyokuni Shinya

    … Array-based comparative genome hybridization analyses revealed, in RCC, the loss of heterozygosity in chromosomes 4 and 12 without p16INK[4]A inactivation; … Lymphomas showed a preference for genomic amplifications. … Fe-NTA-induced murine RCCs revealed significantly less genomic aberrations than those in rats, demonstrating a marked species difference. …

    PATHOLOGY INTERNATIONAL 67(11), 564-574, 2017-11

    IR  Ichushi Web 

  • Astroblastoma: a distinct tumor entity characterized by alterations of the X chromosome and MN1 rearrangement

    Hirose Takanori , Nobusawa Sumihito , Sugiyama Kazuhiko , Amatya Vishwa J. , Fujimoto Naomi , Sasaki Atsushi , Mikami Yoshiki , Kakita Akiyoshi , Tanaka Shinya , Yokoo Hideaki

    … Array comparative genomic hybridization revealed numerous heterozygous deletions on chromosome X in the four tumors studied, and break-apart fluorescence in situ hybridization demonstrated rearrangement of MN1 in five tumors with successful testing. …

    Brain Pathology 28(5), 684-694, 2017-10-09

    IR 

  • Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver–Russell syndrome

    Dateki Sumito , Kagami Masayo , Matsubara Keiko , Izumi Kei , Watanabe Satoshi , Nakatomi Akiko , Kondoh Tatsuro , Fukami Maki , Moriuchi Hiroyuki

    … Methylation analyses, array comparative genomic hybridization, and a FISH analysis revealed the hypomethylation of the H19-DMR and a maternally derived interstitial 5.7 Mb duplication at 15q11.2-q13.1 encompassing the Prader–Willi/Angelman critical region in the patient. …

    Journal of Human Genetics 62(10), 919-922, 2017-10-01

    IR  Ichushi Web 

  • VII. 共同利用研究, 2.研究成果, (2)一般個人研究  [in Japanese]

    B-2 1次視覚野をバイパスする頭頂運合野への視覚入力の解明B-3 サル類における聴覚事象関連電位の記録B-4 新世界ザル苦渋受容体TAS2Rに対するリガンド感受性多様性の検証B-5 霊長類の各種組織の加齢変化B-6 行動の時間配分バランスと分派行動の起こりやすさの関係B-7 ニホンザルにおける歯の組織構造と成長B-8 マーモセットにおける養育個体のオキシトシン濃度B-9 アフリカ中新世霊長類化石 …

    霊長類研究所年報 = Annual Reports of the Primate Research Institute Kyoto University (46), 94-113, 2017-02-03

    IR 

  • A case of West syndrome with a deletion at chromosome 2q24.3-q31.3  [in Japanese]

    Hattori Yuka , Kawawaki Hisashi , Horino Asako , Thuji Hitomi , Nukui Megumi , Kuki Ichiro , Okazaki Shin , Tomiwa Kiyotaka

    … 特徴的な顔貌, 母趾の異常, 発達遅滞を有し, 染色体G分染法で2番染色体長腕の中間部欠失を認め, array comparative genomic hybridization (アレイCGH) 解析でarr 2q24.3q31.3 (166,303,447-180,982.972) ×1 (build19) であった. …

    NO TO HATTATSU 49(2), 131-135, 2017

    J-STAGE  Ichushi Web 

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