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Wyszukujesz frazę ""Mizuguchi, T."" wg kryterium: Autor


Wyświetlanie 1-14 z 14
Tytuł :
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.
Autorzy :
Okubo M; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
Doi H; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
Fukai R; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
Fujita A; Department of Human Genetics, Yokohama City University, Yokohama, Japan.
Mitsuhashi S; Department of Human Genetics, Yokohama City University, Yokohama, Japan.
Hashiguchi S; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
Kishida H; Department of Neurology, Yokohama City University Medical Center, Yokohama, Japan.
Ueda N; Department of Neurology, Yokohama City University Medical Center, Yokohama, Japan.
Morihara K; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
Ogasawara A; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
Kawamoto Y; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
Takahashi T; Department of Neurology, National Hospital Organization Yokohama Medical Center, Yokohama, Japan.
Takahashi K; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
Nakamura H; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
Kunii M; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
Tada M; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
Katsumoto A; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
Fukuda H; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.; Department of Human Genetics, Yokohama City University, Yokohama, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University, Yokohama, Japan.
Miyake N; Department of Human Genetics, Yokohama City University, Yokohama, Japan.
Suzuki J; Department of Neurology, Toyota Memorial Hospital, Toyota, Japan.
Ito Y; Department of Neurology, Toyota Memorial Hospital, Toyota, Japan.
Sone J; Department of Neurology, National Hospital Organization, Suzuka National Hospital, Suzuka, Japan.; Department of Neurology , Nagoya University Graduate School of Medicine, Nagoya, Japan.
Sobue G; Department of Neurology , Nagoya University Graduate School of Medicine, Nagoya, Japan.; Brain and Mind Research Center, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Aichi Medical University, Nagakute, Japan.
Takeuchi H; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University, Yokohama, Japan.
Tanaka F; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
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Źródło :
Annals of neurology [Ann Neurol] 2019 Dec; Vol. 86 (6), pp. 962-968. Date of Electronic Publication: 2019 Oct 22.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann. Neurol. Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
Biallelic COLGALT1 variants are associated with cerebral small vessel disease.
Autorzy :
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Schneeberger S; Institute of Physiology, University of Zurich, Zurich, Switzerland.
Koyama N; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Japan.
Yokochi K; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Japan.; Department of Pediatrics, Seirei Mikatahara General Hospital, Shizuoka, Japan.
Ohmura K; Department of Pediatric Neurology, Morinomiya Hospital, Osaka, Japan.
Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Mori H; Department of Radiology, Graduate School and Faculty of Medicine, University of Tokyo, Tokyo, Japan.
Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Frith MC; Artificial Intelligence Research Center, National Institute of Advanced Industrial Science and Technology, Tokyo, Japan.; Graduate School of Frontier Sciences, University of Tokyo, Chiba, Japan.; Computational Bio Big-Data Open Innovation Laboratory, National Institute of Advanced Industrial Science and Technology, Tokyo, Japan.
Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Satoh M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Taguri M; Department of Data Science, Yokohama City University School of Data Science, Yokohama, Japan.
Tomono Y; Division of Molecular and Cell Biology, Shigei Medical Research Institute, Okayama, Japan.
Takahashi K; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Doi H; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Takeuchi H; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan.
Tanaka F; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Hennet T; Institute of Physiology, University of Zurich, Zurich, Switzerland.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Pokaż więcej
Źródło :
Annals of neurology [Ann Neurol] 2018 Dec; Vol. 84 (6), pp. 843-853. Date of Electronic Publication: 2018 Nov 30.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann. Neurol.
MeSH Terms :
Cerebral Small Vessel Diseases/*genetics
Collagen Type IV/*genetics
Genetic Predisposition to Disease/*genetics
Mutation/*genetics
Cell Line, Transformed ; Cerebral Small Vessel Diseases/diagnostic imaging ; Child ; DNA Mutational Analysis ; Glucosyltransferases/metabolism ; Humans ; Magnetic Resonance Imaging ; Male ; Models, Molecular ; Mutagenesis ; RNA, Messenger/metabolism ; Transfection
Czasopismo naukowe
Tytuł :
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
Autorzy :
Belal H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Higashi-ku, Hamamatsu, Japan.
Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Higashi-ku, Hamamatsu, Japan.; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa-ku, Yokohama, Japan.
Matsumoto H; Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan.
Yokochi K; Department of Pediatric Neurology, Seirei-Mikatahara General Hospital, Kita-ku, Hamamatsu, Japan.; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aotake-cho, Toyohashi, Japan.
Taniguchi-Ikeda M; Department of Pediatrics, Kobe University Graduate School of Medicine, Chuo-ku, Kobe, Japan.; Department of Clinical Genetics, Fujita Health University Hospital, Dengakugakubo, Toyoake, Aichi, Japan.
Aoto K; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Higashi-ku, Hamamatsu, Japan.
Amin MB; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Higashi-ku, Hamamatsu, Japan.; Enteric and Food Microbiology Laboratory, ICDDR,B, Dhaka, Bangladesh.
Maruyama A; Department of Neurology, Hyogo Prefectural Kobe Children's Hospital, Chuo-ku, Kobe, Japan.
Nagase H; Department of Pediatrics, Kobe University Graduate School of Medicine, Chuo-ku, Kobe, Japan.
Mizuguchi T; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa-ku, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa-ku, Yokohama, Japan.
Miyake N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa-ku, Yokohama, Japan.
Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine, Chuo-ku, Kobe, Japan.
Nonoyama S; Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan.
Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa-ku, Yokohama, Japan.
Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Higashi-ku, Hamamatsu, Japan.
Pokaż więcej
Źródło :
Human mutation [Hum Mutat] 2018 Aug; Vol. 39 (8), pp. 1070-1075. Date of Electronic Publication: 2018 May 25.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum. Mutat. Subsets: MEDLINE
MeSH Terms :
Epilepsy/*genetics
Epilepsy/*pathology
GTP-Binding Proteins/*genetics
Tumor Suppressor Proteins/*genetics
rho GTP-Binding Proteins/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Young Adult
Czasopismo naukowe
Tytuł :
Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.
Autorzy :
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan.
Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
Sawaishi Y; Department of Pediatrics, Akita Prefectural Center on Development and Disability, Akita, Japan.
Saito T; Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Japan.
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
Pokaż więcej
Źródło :
Annals of neurology [Ann Neurol] 2018 Jul; Vol. 84 (1), pp. 159-161. Date of Electronic Publication: 2018 Jul 30.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't; Comment
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann. Neurol.
MeSH Terms :
Polymicrogyria*
Spasms, Infantile*
Humans ; Mutation ; NAV1.3 Voltage-Gated Sodium Channel ; Sodium Channels
SCR Disease Name :
Infantile Epileptic-Dyskinetic Encephalopathy
Raport
Tytuł :
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
Autorzy :
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
Aoto K; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Belal H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Mukaida S; Department of Pediatric Neurology, National Hospital Organization Utano Hospital, Kyoto, Japan.
Kumada S; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
Sato A; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.
Zerem A; Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel- Aviv, Israel.
Lerman-Sagie T; Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel- Aviv, Israel.
Lev D; Institute of Medical Genetics, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel- Aviv.
Leong HY; Genetic Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
Tsurusaki Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
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Źródło :
Annals of neurology [Ann Neurol] 2018 Apr; Vol. 83 (4), pp. 794-806.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann. Neurol.
MeSH Terms :
Adaptor Proteins, Signal Transducing/*genetics
Arginine/*genetics
Mutation/*genetics
Spasms, Infantile/*genetics
Adaptor Proteins, Signal Transducing/chemistry ; Adaptor Proteins, Signal Transducing/metabolism ; Animals ; Brain/diagnostic imaging ; Cell Line, Transformed ; Child ; Child, Preschool ; Electroencephalography ; Female ; Gene Expression Regulation, Developmental/genetics ; Green Fluorescent Proteins/genetics ; Green Fluorescent Proteins/metabolism ; HEK293 Cells ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Mice ; Models, Molecular ; Pedigree ; Spasms, Infantile/diagnostic imaging ; Transfection ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions.
Autorzy :
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan.
Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
Shirai I; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo, Japan.
Kumada S; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo, Japan.
Nakata Y; Department of Neuroradiology, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo, Japan.
Kamemaru A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
Pokaż więcej
Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2018 Jan; Vol. 33 (1), pp. 177-179. Date of Electronic Publication: 2017 Nov 22.
Typ publikacji :
Case Reports; Letter; Research Support, Non-U.S. Gov't; Video-Audio Media
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov. Disord. Subsets: MEDLINE
MeSH Terms :
Family Health*
Chorea/*genetics
Chorea/*pathology
Corpus Striatum/*pathology
Mutation/*genetics
Phosphoric Diester Hydrolases/*genetics
Adolescent ; Adult ; Aged, 80 and over ; Chorea/diagnostic imaging ; Corpus Striatum/diagnostic imaging ; DNA Mutational Analysis ; Female ; Humans ; Japan ; Male ; Middle Aged ; Tomography, Emission-Computed, Single-Photon
Raport
Tytuł :
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.
Autorzy :
Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Higashimoto K; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, Japan.
Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Numakura C; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
Okamoto N; Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Matsunaga S; Department of Microbiology, Yokohama City University School of Medicine, Yokohama, Japan.
Ryo A; Department of Microbiology, Yokohama City University School of Medicine, Yokohama, Japan.
Sato Y; Department of Molecular Biology, Yokohama City University School of Medicine, Yokohama, Japan.
Sanefuji M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Ihara K; Department of Pediatrics, Faculty of Medicine, Oita University, Yufu, Japan.
Takada Y; Department of Pediatrics, Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan.
Nishimura G; Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Soejima H; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Pokaż więcej
Źródło :
Human mutation [Hum Mutat] 2017 Jun; Vol. 38 (6), pp. 637-648. Date of Electronic Publication: 2017 Mar 15.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum. Mutat. Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple/*genetics
Congenital Hypothyroidism/*genetics
Craniofacial Abnormalities/*genetics
Cullin Proteins/*genetics
Enhancer of Zeste Homolog 2 Protein/*genetics
Hand Deformities, Congenital/*genetics
Polycomb Repressive Complex 2/*genetics
Abnormalities, Multiple/pathology ; Adult ; Child ; Child, Preschool ; Congenital Hypothyroidism/pathology ; Craniofacial Abnormalities/pathology ; DNA-Binding Proteins/genetics ; Female ; Hand Deformities, Congenital/pathology ; Heterozygote ; Histones/genetics ; Humans ; Male ; Methylation ; Mutation ; Pedigree ; Protein Interaction Maps
SCR Disease Name :
Weaver syndrome
Czasopismo naukowe
Tytuł :
Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.
Autorzy :
Komoike Y; International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Shinjuku-ward, Tokyo, Japan.
Fujii K
Nishimura A
Hiraki Y
Hayashidani M
Shimojima K
Nishizawa T
Higashi K
Yasukawa K
Saitsu H
Miyake N
Mizuguchi T
Matsumoto N
Osawa M
Kohno Y
Higashinakagawa T
Yamamoto T
Pokaż więcej
Źródło :
Genesis (New York, N.Y. : 2000) [Genesis] 2010 Apr; Vol. 48 (4), pp. 233-43.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 100931242 Publication Model: Print Cited Medium: Internet ISSN: 1526-968X (Electronic) Linking ISSN: 1526954X NLM ISO Abbreviation: Genesis Subsets: MEDLINE
MeSH Terms :
14-3-3 Proteins/*genetics
Cardiomegaly/*genetics
Spasms, Infantile/*genetics
Williams Syndrome/*genetics
Zebrafish/*genetics
Zebrafish Proteins/*genetics
14-3-3 Proteins/metabolism ; Animals ; Brain/metabolism ; Brain/pathology ; Calmodulin/genetics ; Calmodulin/metabolism ; Cardiomegaly/metabolism ; Cardiomegaly/pathology ; Chromosome Deletion ; Chromosomes, Human, Pair 7/genetics ; Chromosomes, Human, Pair 7/metabolism ; Comparative Genomic Hybridization ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Female ; Gene Knockdown Techniques ; Humans ; Infant ; Infant, Newborn ; Male ; Myocardium/metabolism ; Myocardium/pathology ; Oligonucleotide Array Sequence Analysis ; Organ Size/genetics ; Spasms, Infantile/metabolism ; Spasms, Infantile/pathology ; Telomere/genetics ; Telomere/metabolism ; Telomere/pathology ; Williams Syndrome/metabolism ; Williams Syndrome/pathology ; Zebrafish/metabolism ; Zebrafish Proteins/metabolism
Czasopismo naukowe
Tytuł :
Gene expression analysis identifies over-expression of CXCL1, SPARC, SPP1, and SULF1 in gastric cancer.
Autorzy :
Junnila S; Institute of Biomedicine/Medical Biochemistry and Developmental Biology, Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland.
Kokkola A
Mizuguchi T
Hirata K
Karjalainen-Lindsberg ML
Puolakkainen P
Monni O
Pokaż więcej
Źródło :
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2010 Jan; Vol. 49 (1), pp. 28-39.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9007329 Publication Model: Print Cited Medium: Internet ISSN: 1098-2264 (Electronic) Linking ISSN: 10452257 NLM ISO Abbreviation: Genes Chromosomes Cancer Subsets: MEDLINE
MeSH Terms :
Gene Expression Regulation, Neoplastic*
Chemokine CXCL1/*genetics
Osteonectin/*genetics
Osteopontin/*genetics
Stomach Neoplasms/*genetics
Sulfotransferases/*genetics
Adult ; Aged ; Aged, 80 and over ; Female ; Finland/epidemiology ; Gene Expression Profiling ; Humans ; Japan/epidemiology ; Male ; Middle Aged ; Reverse Transcriptase Polymerase Chain Reaction ; Up-Regulation
Czasopismo naukowe
    Wyświetlanie 1-14 z 14

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