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


Tytuł :
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.
Autorzy :
Hamanaka K; 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.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Zerem A; Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, and Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.
Lev D; Institute of Medical Genetics, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, and Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.
Blumkin L; Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, and Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.
Yokochi K; Department of Pediatric Neurology, Mikatahara General Hospital, Hamamatsu, Japan.
Fujita A; 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.
Iwama K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.
Mitsuhashi S; 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.
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 Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.
van der Knaap MS; Department of Child Neurology, VU University Medical Centre, Amsterdam, Netherlands.
Lerman-Sagie T; Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, and Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2018 Dec; Vol. 63 (12), pp. 1223-1229. Date of Electronic Publication: 2018 Sep 27.
Typ publikacji :
Clinical Trial; Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Mutation*
Phenotype*
Carrier Proteins/*genetics
Hereditary Central Nervous System Demyelinating Diseases/*genetics
Adult ; Female ; Hereditary Central Nervous System Demyelinating Diseases/diagnostic imaging ; Humans ; Male
Czasopismo naukowe
Tytuł :
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.
Autorzy :
Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Oncology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Yanagisawa K; Department of Hematology, Gunma University Graduate School of Medicine, Maebashi, Japan.
Kunishima S; Department of Medical Technology, Gifu University of Medical Science, Seki, Japan.
Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Ogawa Y; Department of Hematology, Gunma University Graduate School of Medicine, Maebashi, Japan.
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.
Hirato J; Department of Pathology, Gunma University Hospital, Maebashi, Japan.
Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Hamanaka K; 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.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Mitsuhashi S; 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.
Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Handa H; Department of Oncology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Matsumoto N; 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.
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Źródło :
Clinical genetics [Clin Genet] 2018 Dec; Vol. 94 (6), pp. 548-553. Date of Electronic Publication: 2018 Sep 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin. Genet. Subsets: MEDLINE
MeSH Terms :
Genetic Predisposition to Disease*
Mutation*
Cytochromes c/*chemistry
Cytochromes c/*genetics
Protein Domains/*genetics
Thrombocytopenia/*diagnosis
Thrombocytopenia/*genetics
Amino Acid Substitution ; Biomarkers ; Cytokines/blood ; DNA Mutational Analysis ; Female ; Genetic Association Studies ; Humans ; Japan ; Male ; Middle Aged ; Pedigree ; Protein Conformation, alpha-Helical ; Structure-Activity Relationship ; Thrombocytopenia/blood
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.
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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 :
Novel SUZ12 mutations in Weaver-like syndrome.
Autorzy :
Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Albuquerque EVA; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.
Isidor B; Service de Génétique Médicale, Hôpital Hôtel-Dieu, Nantes, France.
Mitsuhashi S; 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.
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.
Boguszewski MCS; Department of Pediatrics, Federal University of Paraná, Curitiba, Brazil.
Boguszewski CL; Department of Internal Medicine, Endocrine Division (SEMPR), Federal University of Paraná, Curitiba, Brazil.
Lerario AM; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.; Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, Michigan.
Funari MA; Laboratorio de Hormonios e Genetica Molecular (LIM/42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
Jorge AAL; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
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Źródło :
Clinical genetics [Clin Genet] 2018 Nov; Vol. 94 (5), pp. 461-466. Date of Electronic Publication: 2018 Aug 06.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin. Genet. Subsets: MEDLINE
MeSH Terms :
Genetic Association Studies*
Genetic Predisposition to Disease*
Mutation*
Phenotype*
Abnormalities, Multiple/*diagnosis
Abnormalities, Multiple/*genetics
Congenital Hypothyroidism/*diagnosis
Congenital Hypothyroidism/*genetics
Craniofacial Abnormalities/*diagnosis
Craniofacial Abnormalities/*genetics
Hand Deformities, Congenital/*diagnosis
Hand Deformities, Congenital/*genetics
Polycomb Repressive Complex 2/*genetics
Alleles ; Amino Acid Substitution ; Facies ; Female ; Genotype ; Humans ; Male ; Pedigree
SCR Disease Name :
Weaver-Like Syndrome
Czasopismo naukowe
Tytuł :
A novel SLC9A1 mutation causes cerebellar ataxia.
Autorzy :
Iwama K; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Osaka H; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Ikeda T; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Mitsuhashi S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Takata A; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Miyake N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Ito S; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Mizuguchi T; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2018 Oct; Vol. 63 (10), pp. 1049-1054. Date of Electronic Publication: 2018 Jul 17.
Typ publikacji :
Case Reports; Clinical Trial; Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Mutation*
Cerebellar Ataxia/*genetics
Sodium-Hydrogen Exchanger 1/*genetics
Adolescent ; Adult ; Cerebellar Ataxia/diagnostic imaging ; Cerebellar Ataxia/physiopathology ; Child ; Child, Preschool ; Female ; Humans ; Male ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia.
Autorzy :
Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Gunma, Japan.
Ogawa Y; Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Gunma, Japan.
Kunishima S; Department of Advanced Diagnosis, Clinical Research Centre, National Hospital Organization Nagoya Medical Centre, Nagoya, Japan.
Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Yanagisawa K; Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Gunma, Japan.
Yokohama A; Division of Blood Transfusion Service, Gunma University Hospital, Gunma, Japan.
Imagawa E; 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.
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.
Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Handa H; Department of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Gunma, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
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Źródło :
British journal of haematology [Br J Haematol] 2018 Jun; Vol. 181 (6), pp. 843-847. Date of Electronic Publication: 2017 Apr 25.
Typ publikacji :
Case Reports; Letter; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br. J. Haematol. Subsets: MEDLINE
MeSH Terms :
Mutation*
Proto-Oncogene Proteins/*genetics
Repressor Proteins/*genetics
Thrombocytopenia/*congenital
Female ; Humans ; Middle Aged ; Thrombocytopenia/pathology ; Zinc Fingers
Raport
Tytuł :
A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.
Autorzy :
Sekiguchi F; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Nasiri J; Department of Pediatric Neurology, Faculty of Medicine, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, 8174675346, Iran.
Sedghi M; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, 8174675731, Iran.
Salehi M; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, 8174675731, Iran.
Hosseinzadeh M; Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, 1417613151, Iran.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, 594-1101, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, 236-0004, Japan.
Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. .
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2018 Apr; Vol. 63 (4), pp. 487-491. Date of Electronic Publication: 2018 Feb 06.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Homozygote*
Mutation*
Phenotype*
Craniofacial Abnormalities/*diagnosis
Craniofacial Abnormalities/*genetics
Intellectual Disability/*diagnosis
Intellectual Disability/*genetics
Minor Histocompatibility Antigens/*genetics
Tumor Suppressor Proteins/*genetics
Brain/abnormalities ; Brain/diagnostic imaging ; Child ; Child, Preschool ; Consanguinity ; Female ; Genetic Association Studies ; Humans ; Magnetic Resonance Imaging ; Male ; Pedigree ; Siblings ; Tomography, X-Ray Computed
Czasopismo naukowe
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 homozygous NOP14 variant is likely to cause recurrent pregnancy loss.
Autorzy :
Suzuki T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.
Behnam M; Medical Genetics Center of Genome, Isfahan, Iran.
Ronasian F; Medical Genetics Center of Genome, Isfahan, Iran.
Salehi M; Division of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Sekiguchi F; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Mizuguchi T; 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.
Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Takeda S; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.
Matsumoto N; 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. .
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Źródło :
Journal of human genetics [J Hum Genet] 2018 Apr; Vol. 63 (4), pp. 425-430. Date of Electronic Publication: 2018 Feb 13.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Genetic Association Studies*
Genetic Predisposition to Disease*
Homozygote*
Mutation*
Abortion, Habitual/*diagnosis
Abortion, Habitual/*genetics
Nuclear Proteins/*genetics
Alleles ; Amino Acid Substitution ; Chromosome Mapping ; Consanguinity ; DNA Copy Number Variations ; Female ; Humans ; Iran ; Pedigree ; Phenotype ; Pregnancy ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.
Autorzy :
Iwama K; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Takaori T; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Fukushima A; Niigata Prefecture Hamagumi Medical Rehabilitation Center for Disabled Children, Niigata, Japan.
Tohyama J; Department of Pediatrics, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
Ishiyama A; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Ohba C; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Mitsuhashi S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Takata A; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Miyake N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Ito S; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Mizuguchi T; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2018 Mar; Vol. 63 (3), pp. 263-270. Date of Electronic Publication: 2018 Jan 16.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Genes, Recessive*
Mutation*
Cell Cycle Proteins/*genetics
Cerebellar Diseases/*diagnosis
Cerebellar Diseases/*genetics
Cytoskeletal Proteins/*genetics
Retinitis Pigmentosa/*diagnosis
Retinitis Pigmentosa/*genetics
Adolescent ; Age of Onset ; Alleles ; Atrophy ; Cell Line ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Genotype ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Pedigree ; Phenotype ; Whole Genome Sequencing
Czasopismo naukowe
Tytuł :
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
Autorzy :
Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
Tsurusaki Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan; Clinical Research Institute, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama 232-8555, Japan.
Fukai R; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan; Clinical Genetics Department, Yokohama City University Hospital, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
Kushima I; Department of Psychiatry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
Okada T; Department of Psychiatry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
Morikawa M; Department of Psychiatry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
Uno Y; Department of Psychiatry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
Ishizuka K; Department of Psychiatry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
Nakamura K; Department of Neuropsychiatry, Hirosaki University Graduate School of Medicine, 5 Zaif-cho, Hirosaki 036-8562, Japan; Department of Psychiatry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu 431-3192, Japan.
Tsujii M; Faculty of Sociology, Chukyo University, 101 Tokodachi, Kaizu-cho, Toyota 470-0393, Japan.
Yoshikawa T; Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako 351-0198, Japan.
Toyota T; Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako 351-0198, Japan.
Okamoto N; Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi 594-1101, Japan.
Hiraki Y; Hiroshima Municipal Center for Child Health and Development, 2-15-55 Hikarimachi, Higashi-ku, Hiroshima 732-0052, Japan.
Hashimoto R; Molecular Research Center for Children's Mental Development, United Graduate School of Child Development, Osaka University, D3, 2-2 Yamadaoka, Suita 565-0871, Japan; Department of Psychiatry, Osaka University Graduate School of Medicine, D3, 2-2 Yamadaoka, Suita 565-0871, Japan.
Yasuda Y; Department of Psychiatry, Osaka University Graduate School of Medicine, D3, 2-2 Yamadaoka, Suita 565-0871, Japan.
Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Kawasumi 1, Mizuho-cho, Mizuho-ku, Nagoya 467-8601, Japan.
Ohashi K; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Kawasumi 1, Mizuho-cho, Mizuho-ku, Nagoya 467-8601, Japan.
Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
Ohga S; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
Hara T; Fukuoka Children's Hospital, 5-1-1 Kashiiteriha, Higashi-ku, Fukuoka 813-0017, Japan.
Kato M; Department of Pediatrics, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku, Tokyo 142-8666, Japan.
Nakamura K; Department of Pediatrics, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.
Ito A; Department of Pediatrics, Yamagata Prefectural Rehabilitation Center for Children with Disabilities, 3-7-1 Kawasaki, Kaminoyama, Yamagata 999-3145, Japan.
Seiwa C; Department of Pediatrics, Yamagata Prefectural Rehabilitation Center for Children with Disabilities, 3-7-1 Kawasaki, Kaminoyama, Yamagata 999-3145, Japan.
Shirahata E; Department of Pediatrics, Yamagata Prefectural Rehabilitation Center for Children with Disabilities, 3-7-1 Kawasaki, Kaminoyama, Yamagata 999-3145, Japan.
Osaka H; Department of Pediatrics, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke 329-0498, Japan.
Matsumoto A; Department of Pediatrics, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke 329-0498, Japan.
Takeshita S; Department of Pediatrics, Yokohama City University Medical Center, 4-57 Urafune, Minami-ku, Yokohama 232-0024, Japan.
Tohyama J; Department of Pediatrics, Nishi-Niigata Chuo National Hospital, 1-14-1 Masago, Nishi-ku, Niigata 950-2085, Japan.
Saikusa T; Departments of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan; Department of Pediatrics, St. Mary's Hospital, 422 Tsubukuhonmach, Kurume 830-8543, Japan.
Matsuishi T; Departments of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan; Department of Pediatrics, St. Mary's Hospital, 422 Tsubukuhonmach, Kurume 830-8543, Japan.
Nakamura T; Laboratory for Molecular Dynamics of Mental Disorders, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako-shi, Saitama 351-0198, Japan; Department of Life Sciences, Graduate School of Arts and Sciences, University of Tokyo, Tokyo 153-8902, Japan.
Tsuboi T; Department of Life Sciences, Graduate School of Arts and Sciences, University of Tokyo, Tokyo 153-8902, Japan.
Kato T; Laboratory for Molecular Dynamics of Mental Disorders, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako-shi, Saitama 351-0198, Japan.
Suzuki T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo 113-8421, Japan.
Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
Tanaka F; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
Mori N; Department of Psychiatry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu 431-3192, Japan.
Ozaki N; Department of Psychiatry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan. Electronic address: .
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Źródło :
Cell reports [Cell Rep] 2018 Jan 16; Vol. 22 (3), pp. 734-747.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE
MeSH Terms :
Autism Spectrum Disorder/*genetics
Mutation/*genetics
Autism Spectrum Disorder/pathology ; Genetic Predisposition to Disease ; Humans
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.
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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 :
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
Autorzy :
Mizuguchi T; 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.
Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
Yamada K; Division of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Aichi, Japan.
Okanishi T; Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Hamamatsu, Japan.
Ekhilevitch N; The Genetics Institute and Metabolic Unit, Rambam Health Care Campus, Haifa, Israel.; Rappaport School of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Mandel H; The Genetics Institute and Metabolic Unit, Rambam Health Care Campus, Haifa, Israel.; Rappaport School of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Eran A; Department of Radiology, Rambam Health Care Campus, Haifa, Israel.
Toyono M; Department of Pediatrics, Akita Prefectural Center on Development and Disability, Akita, Japan.
Sawaishi Y; Department of Pediatrics, Akita Prefectural Center on Development and Disability, Akita, Japan.
Motoi H; Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Hamamatsu, Japan.
Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Ogata K; Department of Biochemistry, 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.
Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; 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 :
Journal of human genetics [J Hum Genet] 2017 Apr; Vol. 62 (5), pp. 525-529. Date of Electronic Publication: 2017 Jan 12.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Amino Acyl-tRNA Synthetases/*genetics
Aspartate-tRNA Ligase/*genetics
Mutation/*genetics
Neurodegenerative Diseases/*genetics
Age of Onset ; Child ; Child, Preschool ; Family ; Female ; Humans ; Infant ; Male ; Pedigree
Czasopismo naukowe
Tytuł :
Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy.
Autorzy :
Folco HD; Laboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Chalamcharla VR; Laboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Sugiyama T; Laboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Thillainadesan G; Laboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Zofall M; Laboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Balachandran V; Laboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Dhakshnamoorthy J; Laboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Mizuguchi T; Laboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Grewal SI; Laboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
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Źródło :
Nature [Nature] 2017 Mar 02; Vol. 543 (7643), pp. 126-130. Date of Electronic Publication: 2017 Feb 15.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural
Journal Info :
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE
MeSH Terms :
Gene Expression Regulation, Fungal*
Models, Biological*
Mutation*
Germ Cells/*metabolism
Schizosaccharomyces/*cytology
Schizosaccharomyces/*genetics
Uniparental Disomy/*genetics
Centromere/metabolism ; Chromosomal Proteins, Non-Histone/metabolism ; Chromosome Segregation/genetics ; Cyclins/deficiency ; Cyclins/genetics ; Diploidy ; Heterochromatin/metabolism ; Humans ; Meiosis/genetics ; Phosphoproteins/deficiency ; Phosphoproteins/genetics ; Phosphoproteins/metabolism ; RNA Interference ; Schizosaccharomyces pombe Proteins/genetics ; Schizosaccharomyces pombe Proteins/metabolism ; Time Factors ; Uniparental Disomy/pathology ; mRNA Cleavage and Polyadenylation Factors/deficiency ; mRNA Cleavage and Polyadenylation Factors/genetics ; mRNA Cleavage and Polyadenylation Factors/metabolism
Czasopismo naukowe
Tytuł :
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
Autorzy :
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa 236-0004, Japan.
Mitsuhashi S; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan; Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan; Biomedical Informatics Laboratory, Department of Molecular Life Science, Tokai University School of Medicine, Isehara, Kanagawa 259-1193, Japan.
Hayashi YK; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan; Department of Pathophysiology, Tokyo Medical University, Shinjuku-ku, Tokyo 160-8402, Japan.
Purevjav E; Department of Pediatrics, The Heart Institute, University of Tennessee Health Science Center, Memphis, TN 38103, USA.
Nishikawa A; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan; Department of Education, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Chuo-shi, Yamanashi 409-3898, Japan.
Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Suzuki M; Department of Neurology, National Hospital Organization Higashisaitama Hospital, Hasuda, Saitama 349-0196, Japan.
Yatabe K; Department of Neurology, National Hospital Organization Higashisaitama Hospital, Hasuda, Saitama 349-0196, Japan.
Tanaka Y; Department of Neurology, National Hospital Organization Higashisaitama Hospital, Hasuda, Saitama 349-0196, Japan.
Ogata K; Department of Neurology, National Hospital Organization Higashisaitama Hospital, Hasuda, Saitama 349-0196, Japan.
Kuru S; Department of Neurology, National Hospital Organization Suzuka National Hospital, Suzuka, Mie 513-8501, Japan.
Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Tsurusaki Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka 431-3192, Japan.
Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Kawai M; Department of Neurology, National Hospital Organization Higashisaitama Hospital, Hasuda, Saitama 349-0196, Japan.
Towbin J; Department of Pediatrics, The Heart Institute, University of Tennessee Health Science Center, Memphis, TN 38103, USA.
Nonaka I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan.
Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2017 Jan 05; Vol. 100 (1), pp. 169-178. Date of Electronic Publication: 2016 Dec 22.
Typ publikacji :
Journal Article
Journal Info :
Publisher: University of Chicago Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Alleles*
Disease Progression*
Mutation*
Muscle Proteins/*genetics
Myopathies, Nemaline/*genetics
Adult ; Age of Onset ; Animals ; Child ; Child, Preschool ; Female ; Gene Knock-In Techniques ; Humans ; Male ; Mice ; Middle Aged ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Muscle, Skeletal/ultrastructure ; Myopathies, Nemaline/pathology ; Pedigree
Czasopismo naukowe
Tytuł :
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
Autorzy :
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan. Electronic address: .
Fukai R; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Ohba C; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Chihara T; Department of Biological Science, Graduate School of Science, Hiroshima University, Hiroshima 739-8526, Japan.
Miura M; Department of Genetics, Graduate School of Pharmaceutical Sciences, The University of Tokyo, Tokyo 113-0033, Japan; Agency for Medical Research and Development-Core Research for Evolutional Medical Science and Technology (AMED-CREST), Japan Agency for Medical Research and Development, Tokyo 100-0004, Japan.
Shimizu H; Department of Pathology, Brain Research Institute, University of Niigata, Niigata 951-8585, Japan.
Kakita A; Department of Pathology, Brain Research Institute, University of Niigata, Niigata 951-8585, Japan.
Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Okuno-Yuguchi J; Department of Neuropediatrics, Nagano Children's Hospital, Azumino 399-8205, Japan.
Fueki N; Division of Rehabilitation, Nagano Children's Hospital, Azumino 399-8205, Japan.
Ogiso Y; Department of Clinical Pathology, Nagano Children's Hospital, Azumino 399-8288, Japan.
Suzumura H; Department of Pediatrics, Dokkyo Medical University School of Medicine, Tochigi 321-0293, Japan.
Watabe Y; Department of Pediatrics, Dokkyo Medical University School of Medicine, Tochigi 321-0293, Japan.
Imataka G; Department of Pediatrics, Dokkyo Medical University School of Medicine, Tochigi 321-0293, Japan.
Leong HY; Genetics Department, Hospital Kuala Lumpur, Kuala Lumpur 50586, Malaysia.
Fattal-Valevski A; Pediatric Neurology Unit, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
Kramer U; Pediatric Neurology Unit, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan.
Okamoto N; Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka 594-1101, Japan.
Sato Y; Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Mitsuhashi S; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan; Department of Medical Genome Development, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan.
Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan; Department of Medical Genome Development, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan.
Kaneko N; Department of Immunology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Nishiyama A; Department of Immunology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Tamura T; Department of Immunology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Tanaka F; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2016 Oct 06; Vol. 99 (4), pp. 950-961. Date of Electronic Publication: 2016 Sep 22.
Typ publikacji :
Journal Article
Journal Info :
Publisher: University of Chicago Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Alleles*
Brain Diseases/*genetics
Microtubule-Associated Proteins/*genetics
Mutation/*genetics
Neurodegenerative Diseases/*genetics
Adolescent ; Age of Onset ; Amino Acid Sequence ; Animals ; Brain Diseases/pathology ; Brain Diseases/physiopathology ; Child ; Child, Preschool ; Drosophila melanogaster/genetics ; Exome ; Female ; Frameshift Mutation/genetics ; GTP-Binding Proteins/metabolism ; Humans ; Infant ; Infant, Newborn ; Male ; Microtubule-Associated Proteins/chemistry ; Microtubule-Associated Proteins/metabolism ; Microtubules/metabolism ; Molecular Chaperones/genetics ; Molecular Chaperones/metabolism ; Neurodegenerative Diseases/pathology ; Neurodegenerative Diseases/physiopathology ; Pedigree ; RNA Splice Sites/genetics ; Tubulin/metabolism ; Young Adult
Czasopismo naukowe
Tytuł :
WDR45 mutations in three male patients with West syndrome.
Autorzy :
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Takano K; Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
Tsuyusaki Y; Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
Yoshitomi S; Department of Pediatrics, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.
Shimono M; Department of Pediatrics, University of Occupational and Environmental Health, Kitakyushu, Japan.
Aoki Y; Department of Pediatrics, Asahi General Hospital, Asahi, Japan.
Kato M; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
Aida N; Department of Radiology, Kanagawa Children's Medical Center, 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.
Osaka H; Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; 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 :
Journal of human genetics [J Hum Genet] 2016 Jul; Vol. 61 (7), pp. 653-61. Date of Electronic Publication: 2016 Mar 31.
Typ publikacji :
Case Reports; Journal Article; Review
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Genetic Association Studies*
Mutation*
Carrier Proteins/*genetics
Spasms, Infantile/*diagnosis
Spasms, Infantile/*genetics
Brain/pathology ; Child ; Child, Preschool ; DNA Mutational Analysis ; Electroencephalography ; Exome ; Female ; Gene Expression ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Microsatellite Repeats ; Pedigree ; Phenotype ; Spasms, Infantile/drug therapy
Czasopismo naukowe
Tytuł :
Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.
Autorzy :
Sakai H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.
Suzuki S
Mizuguchi T
Imoto K
Yamashita Y
Doi H
Kikuchi M
Tsurusaki Y
Saitsu H
Miyake N
Masuda M
Matsumoto N
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Źródło :
Human genetics [Hum Genet] 2012 Apr; Vol. 131 (4), pp. 591-9. Date of Electronic Publication: 2011 Oct 15.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Mutation*
Aneurysm, Dissecting/*genetics
Aortic Aneurysm/*genetics
Genetic Predisposition to Disease/*genetics
Sequence Analysis, DNA/*methods
Actins/genetics ; Adult ; Aged ; Aged, 80 and over ; Amino Acid Sequence ; Aortic Aneurysm, Thoracic/genetics ; Collagen Type III/genetics ; Female ; Fibrillins ; Glucose Transport Proteins, Facilitative/genetics ; Humans ; Male ; Microarray Analysis/methods ; Microfilament Proteins/genetics ; Middle Aged ; Myosin Heavy Chains/genetics ; Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase/genetics ; Protein-Serine-Threonine Kinases/genetics ; Receptor, Transforming Growth Factor-beta Type I ; Receptor, Transforming Growth Factor-beta Type II ; Receptors, Transforming Growth Factor beta/genetics ; Reproducibility of Results ; Sequence Homology, Amino Acid
Czasopismo naukowe
Tytuł :
Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects.
Autorzy :
Hamanoue H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Rahayuningsih SE
Hirahara Y
Itoh J
Yokoyama U
Mizuguchi T
Saitsu H
Miyake N
Hirahara F
Matsumoto N
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Źródło :
Cardiology in the young [Cardiol Young] 2009 Sep; Vol. 19 (5), pp. 482-5. Date of Electronic Publication: 2009 Aug 13.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Cambridge University Press Country of Publication: England NLM ID: 9200019 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1467-1107 (Electronic) Linking ISSN: 10479511 NLM ISO Abbreviation: Cardiol Young Subsets: MEDLINE
MeSH Terms :
Genetic Testing*
Mutation*
GATA4 Transcription Factor/*genetics
Heart Septal Defects, Atrial/*genetics
Tetralogy of Fallot/*genetics
Child, Preschool ; Humans ; Male ; Pedigree
Czasopismo naukowe

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