Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia
スポンサーリンク
概要
- 論文の詳細を見る
- Springer Japanの論文
- 2007-08-01
著者
-
INAZAWA Johji
Department of Molecular Cytogenetics, Medical Research Institute and School of Biomedical Science, T
-
KOBAYASHI KAZUHIRO
Division of Urology, Department of Regenerative and Transplant Medicine, Graduate School of Medical
-
戸田 達史
大阪大学 大学院医学系研究科臨床遺伝学
-
戸田 達史
大阪大学 大学院 医学系研究科 ポストゲノム疾患解析学 講座 ゲノム機能分野
-
Inazawa Johji
Department Of Hygiene Kyoto Prefectural University Of Medicine
-
TODA Tatsushi
Division of Clinical Genetics, Osaka University Graduate School of Medicine
-
MIZUSAWA Hidehiro
Department of Neurology and Neurological Science, Tokyo Medical and Dental University
-
ISHIKAWA Kinya
Department of Neurology and Neurological Science, Tokyo Medical and Dental University Graduate Schoo
-
MURATA Miho
Department of Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, Nation
-
TORU Shuta
Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, To
-
TSUNEMI Taiji
Department of Neurology, Tokyo Medical and Dental University Graduate School of Medicine
-
Murata Miho
Department Of Medicine Jichi Medical University Saitama Medical Center
-
Murata Miho
Department Of Neurology Musashi Hospital National Center Of Neurology And Psychiatry
-
Shuta Toru
Department Of Neurology And Neurological Science Graduate School Tokyo Medical And Dental University
-
Toda T
Division Of Clinical Genetics Department Of Medical Genetics Osaka University Graduate School Of Med
-
Tsunemi Taiji
Department Of Neurology And Neurological Science Graduate School Tokyo Medical And Dental University
-
Ishikawa Kinya
Department Of Neurology And Neurological Science Tokyo Medical And Dental University Graduate School
-
Ishikawa Kinya
Department Of Neurology And Neurological Science Graduate School Of Medical And Dental Sciences Toky
-
AMINO Takeshi
Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental Universi
-
ISHIGURO Taro
Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental Universi
-
SATO Nozomu
Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental Universi
-
Sato Nozomu
Department Of Neurology And Neurological Science Graduate School Tokyo Medical And Dental University
-
Amino Takeshi
Department Of Neurology And Neurological Science Graduate School Tokyo Medical And Dental University
-
Ishiguro Taro
Department Of Neurology And Neurological Science Graduate School Tokyo Medical And Dental University
-
Toda Tatsushi
Division Of Clinical Genetics Department Of Medical Genetics Osaka University Graduate School Of Med
-
Mizusawa Hidehiro
Department Of Neurology And Neurological Science Graduate School Tokyo Medical And Dental University
-
Mizusawa Hidehiro
Department Of Neurology And Neurological Science (chairman: Prof. Hidehiro Mizusawa) Graduate School
-
Inazawa Johji
Department Of Molecular Cytogenetics Medical Research Institute And School Of Biomedical Science Tok
-
Kobayashi Kazuhiro
Division Of Clinical Genetics Department Of Medical Genetics Osaka University Graduate School Of Med
-
MURATA Miho
Department of Degenerative Neurological Diseases, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)
関連論文
- 福山型筋ジストロフィーの発見とその類縁疾患における病態
- 福山型と遺伝学的に異なる先天性筋ジストロフィーの免疫組織化学的検討
- 孤発性パーキンソン病のゲノムワイドスクリーニング (特集 神経変性疾患とゲノム)
- 神経疾患とゲノム (臨床遺伝子学'07--ゲノム科学の臨床へのインパクト) -- (多因子病のゲノム研究は今)
- パーキンソン病の分子遺伝学 (特集 パーキンソン病の分子遺伝学--最近の知見)
- O2-59 福山型先天性筋ジストロフィーにみられるてんかんの治療及び遺伝子変異と発作の関連(遺伝・生理,一般演題(口演),第40回 日本てんかん学会)
- Overexpressed Skp2 within 5p amplification detected by array-based comparative genomic hybridization is associated with poor prognosis of glioblastomas
- Array-based comparative genomic hybridization analysis of high-grade neuroendocrine tumors of the lung
- Obstruction of the ileal ureter by mesenteric vessels occurring 5 years after total ureteral substitution for bilateral ureteral stenosis due to systemic lupus erythematosus
- Gasless Laparoscopy-Assisted Live Donor Nephrectomy(1)(Endoscopic Live Donor Nephrectomy)
- IQGAP1, a negative regulator of cell-cell adhesion, is upregulated by gene amplification at 15q26 in gastric cancer cell lines HSC39 and 40A
- Identification of SMURF1 as a possible target for 7q21.3-22.1 amplification detected in a pancreatic cancer cell line by in-house array-based comparative genomic hybridization
- Philadelphia chromosome-negative cells with trisomy 8 after busulfan and interferon treatment of Ph^1-positive chronic myelogenous leukemia
- Genomic Structure and Mapping of Human Orphan Receptor LXR Alpha : Upregulation of LXRa mRNA During Monocyte to Macrophage Differentiation
- LRRK2 P755L variant in sporadic Parkinson's disease
- Geographic Difference of Mortality of Creutzfeldt-Jakob Disease in Japan
- ITCH is a putative target for a novel 20q11.22 amplification detected in anaplastic thyroid carcinoma cells by array-based comparative genomic hybridization
- Aging of the human limbic system: Observations of centenarian brains and analyses of genetic risk factors for senile changes
- A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6
- Frequent silencing of a putative tumor suppressor gene melatonin receptor 1 A (MTNR1A) in oral squamous-cell carcinoma
- PIK3CA mutation is an oncogenic aberration at advanced stages of oral squamous cell carcinoma
- Detection of Numerical alterations of Chromosomes 3,7,17 and X in Low-grade Intracystic Papillary Tumors of the Breast by Multi-color Fluorescence In Situ Hybridization
- Skp2 overexpression is a p27^-independent predictor of poor prognosis in patients with biliary tract cancers
- Differentially Regulated Genes as Putative Targets of Amplifications at 20q in Ovarian Cancers
- Molecular cloning, tissue expression, and chromosomal assignment of a novel gene encoding a subunit of the human signal-recognition particle
- Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan
- Identification of CAG repeat-containing genes expressed in human brain as candidate genes for autosomal dominant spinocerebellar ataxias and other neurodegenerative diseases
- Immunohistochemical Diagnosis of Cryptococcus neoformans var. gattii Infection in Chronic Meningoencephalitis : the First Case in Japan
- 福山型遺伝子フクチン同定のヒント, 幸運とそれから
- Identification of a novel fusion gene in a pre-B acute lymphoblastic leukemia with t(1 ; 19)(q23 ; p13)
- MYEOV, a gene at 11q13, is coamplified with CCND1, but epigenetically inactivated in a subset of esophageal squamous cell carcinomas
- Nonrandom Chromosomal Imbalances in Esophageal Squamous Cell Carcinoma Cell Lines : Possible Involvement of the ATF3 and CENPF Genes in the 1q32 Amplicon
- Successful Imatinib Treatment of Cardiac Involvement of FIP1L1-PDGFRA-Positive Chronic Eosinophilic Leukemia Followed by Severe Hepatotoxicity
- Activation of B-Myb by E2F1 in hepatocellular carcinoma
- Association of over-expressed TFDP1 with progression of hepatocellular carcinomas
- Multi-color FISH : Application to the Simultaneous Detection of Chromosome Aberrations in Neuro-epithelial Tumor Cell Lines
- A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano
- Repeat-directed isolation of a novel gene preferentially expressed from the maternal allele in human placenta
- Ultrastructural and MRI study of the substantia nigra evolving exofocal post-ischemic neuronal death in the rat
- Spermatogenic ability is different among males in different Y chromosome lineage
- Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage
- パーキンソン病におけるオーダーメイド医療をめざして (特集 オーダーメイド医療--臨床応用への着実なアプローチ)
- Glycosylation in Congenital Muscular Dystrophies
- Genomic structure and chromosomal localization of the gene encoding TRAX, a Translin-associated factor X
- A Novel Amplicon at 9p23-24 in Squamous Cell Carcinoma of the Esophagus That Lies Proximal to GASC1 and Harbors NFIB
- Induction of mcl1/EAT, Bcl-2 Related Gene, by Retinoic Acid or Heat Shock in the Human Embryonal Carcinoma Cells, NCR-G3
- Molecular Cytogenetic Analysis of 17 Renal Cancer Cell Lines: Increased Copy Number at 5q31-33 in Cell Lines from Nonpapillary Carcinomas
- Genetic or epigenetic silencing of low density lipoprotein receptor-related protein 1B expression in oral squamous cell carcinoma
- Caffeine yields aneuploidy through asymmetrical cell division caused by misalignment of chromosomes
- CARCINOEMBRYONIC ANTIGEN (CEA) FAMILY GENES ARE LOCATED ON HUMAN CHROMOSOME 19 AT BAND q13.2 (In situ Hybridization III. : Application for Medical Investigation)
- Human arylhydrocarbon receptor repressor (AHRR) gene : genomic structure and analysis of polymorphism in endometriosis
- The human caspase-activated DNase gene (hCAD) : genomic structure, exonic single-nucleotide polymorphisms, and a highly polymorphic dinucleotide repeat at the hCAD locus
- Molecular Cloning and Genomic Analysis of Mouse Glucuronyltransferase Involved in Biosynthesis of the HNK-1 Epitope
- TNF-related apoptosis-inducing ligand (TRAIL) induces neuronal apoptosis in HIV-encephalopathy
- Identification of novel cancer-related genes through genomic and epigenomic analyses of gastrointestinal cancer
- Translocation (1 ; 22)(p36 ; q11.2) with concurrent del(22)(q11.2) resulted in homozygous deletion of SNF5/INI1 in a newly established cell line derived from extrarenal rhabdoid tumor
- Identification of PAK4 as a putative target gene for amplification within 19q13.12-q13.2 in oral squamous-cell carcinoma
- Genome-wide DNA methylation profiles in urothelial carcinomas and urothelia at the precancerous stage
- Comparative genomic hybridization (CGH)-arrays pave the way for identification of novel cancer-related genes
- GPC5 is a possible target for the 13q31-q32 amplification detected in lymphoma cell lines
- Coexistence of CJD and Alzheimer's disease : An autopsy case showing typical clinical features of CJD
- REEXAMINATION OF CHROMOSOMAL LOCI OF HUMAN MUSCLE ACTIN GENES BY FLUORESCENCE IN SITU HYBRIDIZATION
- Human Gene for β-Microseminoprotein: Its Promoter Structure and Chromosomal Localization^1
- UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles)
- A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan
- 神経疾患と遺伝素因 (特集 ポストゲノム時代の医療) -- (ゲノム解析からの病態解明)
- Introduction of Short Interfering RNA to Silence Endogenous E-Selectin in Vascular Endothelium Leads to Successful Inhibition of Leukocyte Adhesion
- Fukuyama-type congenital muscular dystrophy (FCMD) and α-dystroglycanopathy
- Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia
- Down-regulation of SKP2 induces apoptosis in lunq-cancer cells
- Two region-dependent pathways of eosinophilic neuronal death after transient cerebral ischemia
- Direct and accurate measurement of CAG repeat configuration in the ataxin-1 (ATXN-1) gene by "dual-fluorescence labeled PCR-restriction fragment length analysis"
- Alzheimer病と遺伝 (特集 生活習慣病は遺伝するか?--家族性生活習慣病?)
- 福山型筋ジストロフィー (特集 筋疾患の病態と診断,治療戦略の最前線) -- (病態と診断)
- αジストログリカノパチー(福山, MEB, etc) : 糖鎖異常と筋ジストロフィー
- Overview 新たな時代にいかにして多因子疾患に迫るか (特集 多因子疾患への多面的アプローチ)
- 福山型先天性筋ジストロフィーとαジストログリカノパチー (神経糖鎖生物学) -- (糖鎖と神経・筋疾患,病態モデル)
- BIO REVIEW 神経変性疾患ポリグルタミン病に対する治療ペプチドQBP1
- 糖鎖と筋ジストロフィー (特集 糖鎖の新たな機能と疾患へのかかわり) -- (REVIEW2:疾患と糖鎖)
- Walker-Warburg症候群と糖鎖修飾酵素異常 (ミオパチーの治療戦略)
- フクチン,フクチン関連蛋白異常による先天性筋ジストロフィー--福山型と関連疾患 (ミオパチーの治療戦略)
- 筋ジストロフィーの分子遺伝学 (特集 精神・神経疾患とゲノム)
- 多因子性神経疾患 (〔2002年〕9月第1土曜特集 多因子疾患--遺伝要因の解明と現状) -- (臨床疾患へのアプローチ)
- NEWS&TOPICS 筋ジストロフィー,神経細胞移動障害に糖鎖が関与する--muscle-eye-brain病原因遺伝子の解明
- The genetic and molecular basis of muscular dystrophy : roles of cell-matrix linkage in the pathogenesis
- Dermokine as a novel biomarker for early-stage colorectal cancer
- A NOVEL (CA)_n POLYMORPHISM ON 6p21.1-21.2
- 話題 神経内科学 Santavuori病原因遺伝子の解明--糖鎖が筋ジストロフィー,神経細胞移動障害に関与
- ポストゲノム時代の神経科学
- 神経性ならびに特殊疾患 先天性筋ジストロフィー--とくに福山型の遺伝子診断 (〔2001年〕6月第5土曜特集 予防医学のミレニアム--遺伝子診断の動向とそれに伴う問題点) -- (ミレニアム医学の構築)
- 福山型先天性筋ジストロフィー
- 単一遺伝子病 (特集 ゲノム時代の遺伝医学)
- Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation
- Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
- HRAS mutants identified in Costello syndrome patients can induce cellular senescence : possible implications for the pathogenesis of Costello syndrome
- Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion
- Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis
- Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation
- Molecular cloning of t(2;7)(p24.3;p14.2), a novel chromosomal translocation in myelodysplastic syndrome-derived acute myeloid leukemia
- Molecular Cloning and Genomic Analysis of Mouse Glucuronyltransferase Involved in Biosynthesis of the HNK-1 Epitope.