Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome

スポンサーリンク

概要

• 論文の詳細を見る
• Nature Publishing Groupの論文
• 2010-03-01

著者

• Kishino T

  Department Of Pediatrics Nagasaki University School Of Medicine

• Kondoh Tatsuro

  長崎大学 医学部小児科

• Kondoh Tatsuro

  長崎大学 看

• Kondoh Tatsuro

  長崎大学 医歯薬学研究科人類遺伝学

• Kondoh Tatsuro

  東北大学 医学部遺伝病学分野

• Yoshiura Koh-ichiro

  長崎大学 医歯薬学総合研究科人類遺伝学

• Yoshiura Koh‐ichiro

  Jst‐sorst Kawaguchi Jpn

• Kinoshita Akira

  長崎大学 医歯薬学総合研究科人類遺伝学

• Kinoshita Akira

  長崎大学 医歯薬学研究科人類遺伝学

• Yoshimura Shuichiro

  長崎大学 医歯薬学総合研究科人類遺伝学

• Kinoshita A

  Tokyo Denki Univ. Hiki Jpn

• Kudo T

  Department Of Medical Genetics Tohoku University School Of Medicine

• Kudo Takayuki

  Department Of Otorhinolaryngology Tohoku University School Of Medicine

• YAMASAKI Kentaro

  Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences

• Yamada Yoshihisa

  Department Of Cardiology Gifu University Graduate School Of Medicine

• Matsuzaka Tetsuo

  Department Of Pediatrics Nagasaki University School Of Medicine

• Kayashima Tomohiko

  Department Of Human Genetics Nagasaki University School Of Medicine

• Yamada Koki

  Department Of Human Genetics University Of Chicago

• Kitaoka Takashi

  Department Of Anatomy Faculty Cf Medicine Kyoto University

• Tashiro Kasumi

  Department Of Pediatrics Nagasaki University School Of Medicine

• Yoshiura Koh-ichiro

  Department Of Human Genetics Nagasaki University Graduate School Of Biomedical Sciences

• Kondoh Tatsuro

  Department Of Pediatrics Nagasaki University Graduate School Of Biomedical Sciences

• Ono Shinji

  Department Of Nephrology And Hypertension Mitsubishi Kyoto Hospital

• Kinoshita Akira

  Department Of Applied Science Faculty Of Engineering Tokyo Electrical Engineering College

• Kinoshita Akira

  Department Of Human Genetics Nagasaki University Graduate School Of Biomedical Sciences

• Kimura Akitsugu

  Department Of Materials Sciene And Engineering National Defense Academy

• Ono Shinji

  Department Of Psychiatry Nagasaki University Hospital

• TAKAHATA Taichi

  Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University

• Takayama Tosifumi

  Department Of Ophthalmology And Visual Sciences Graduate School Of Biomedical Sciences Nagasaki University

• Matsuzaka Tetsuo

  Department Of Pediatrics Graduate School Of Biomedical Sciences Nagasaki University

• Kitaoka Takashi

  Department of Anatomy 2, Toyama Medical and Pharmaceutical University Faculty of Medicine

関連論文

• PJ-163 Oxytocin Treatment after Myocardial Infarction Promotes Cardiac Repair and Neovascularization through Activation of Multiple Pro-survival Signals(PJ028,Cardiovascular Pharmacology (Basic), Cost-health care system/DPC/Laws (H),Poster Session (Japane
• Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
• A novel KCNQ4 one-base deletion in a large pedigree with hearing loss : implication for the genotype-phenotype correlation
• Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
• Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia
• Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection
• Large Mass Scale by Strong Gauge Dynamics with Infrared Fixed Point(Particles and Fields)
• Large Mass Scale by Strong Gauge Dynamics with Infrared Fixed Point
• Identification of Water Molecules in Low Humidity and Possibility of Quantitative Gas Analysis using Porous Silicon Gas Sensor
• Gas Identification by a Single Gas Sensor using Porous Silicon as the Sensitive Material
• A Comparative Study of Visible Photoluminescence from Anodized and from Chemically Stained Silicon Wafers
• PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese : population-based and family-based candidate gene analyses
• The IHPK1 gene is disrupted at the 3p21. 31 breakpoint of t(3 ; 9) in a family with type 2 diabetes mellitus
• A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway
• Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
• Probable Noonan syndrome in a boy without PTPN11 mutation, manifesting unusual complications.
• Mirror duplication of chromosome 21 with complete phenotype of Down syndrome.
• A Genome-wide Linkage Analysis and Mutation Analysis of Hereditary Congenital Blepharoptosis in a Japanese Family
• A Japanese patient with a mild Lenz-Majewski syndrome
• Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain
• The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression
• Two infantile cases of congenital myotonic dystrophy with cholelithiasis/cholestasis
• Genotype-phenotype correlation of 5p- syndrome : pitfall of diagnosis
• A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
• Phenotype-genotype correlation in two patients with 12q proximal deletion
• Renal tubular dysgenesis complicated with severe cranium hypoplasia
• LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density
• On the conflicting reports of imprinting status of mouse ATPIOa in the adult brain : strain-background-dependent imprinting?
• Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy
• Protein-losing enteropathy complicated with recurrent convulsions and developmental delay in a 4-month-old boy
• Sensitive and Real-Time Method for Evaluating Corneal Barrier Considering Tear Flow
• Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid
• Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family
• A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
• Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)
• A 1.5-Mb PAC/BAC Contig Spanning the Prader-Willi Syndrome Critical Region (PWCR)
• Genetic Counseling System in Nagasaki University Hospital and Genetic Services in Nagasaki Prefecture-Now and Future
• Special Report A Genetic Counseling System in Nagasaki Prefecture: The Course and Current Status of the Genetic Counseling Unit in Nagasaki University Hospital
• Photoacoustic Spectra from Co Doped ZnO with Different Grain or Cluster Sizes
• Early Manifestation of Vogt-Koyanagi-Harada Disease as Unilateral Posterior Scleritis
• The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
• EMI Reduction by Spread-Spectrum Clocking in Digitally-Controlled DC-DC Converters
• A Case of Basal Cell Adenocarcinoma of the Parotid Gland
• A Case of Leiomyosarcoma of the Sphenoid Sinus
• Does increased nuchal translucency indicate a fetal abnormality? A retrospective study to clarify the clinical significance of nuchal translucency in Japan
• Congenital diaphragmatic hernia : an evaluation of the prognostic value of the lung-to-head ratio
• Prenatal Vitamin E Treatment Improves Lung Growth in Fetal Rats with Congenital Diaphragmatic Hernia
• Histological and Immunohistochemical Analysis of Fetal Hypoplastic Lungs: Preliminary Study
• Repeat-directed isolation of a novel gene preferentially expressed from the maternal allele in human placenta
• Fetal Arterial Blood Flow Waveforms in Premature Labor and Effect of Ritodrine Infusion
• Size Effects on Photoacoustic Spectra for GaAs Fine Powder
• Photoacoustic Spectra on the Bi or Pr Doped ZnO Varistors
• Photoacoustic Spectra on the ZnO and CdO Compound Semiconductor
• Review Article Children with Chronic Granulomatous Disease
• A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy
• A case of megalocornea-mental retardation syndrome complicated with bilateral sensorineural hearing impairment
• Autosomal dominant onychodystrophy and congenital sensorineural deafness
• A severe case of Moebius syndrome with calcification on the fourth ventricular floor
• New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome
• A NAGER ACROFACIAL DYSOSTOSIS SYNDROME PATIENT WITH SEVERE RESPIRATORY DISTRESS SYNDROME (RDS)
• CYTOCHEMICAL DEMONSTRATION OF LECTIN BINDING SITES IN ROD PHOTORECEPTOR CELLS AND INTERPHOTORECEPTOR MATRIX OF RAT RETINAS BY LABELING FROZEN THIN-SECTIONS WITH VARIOUS LECTINS
• Candesartan Decreases Carotid Intima-Media Thickness by Enhancing Nitric Oxide and Decreasing Oxidative Stress in Patients with Hypertension
• Photoacoustic Spectra of ZnO-Co Alloy Semiconductors
• Photoacoustic Spectra for Porous Silicon Using Piezoelectric Transducer and Microphone
• Evaluation of ZnO Varistors by Photoacoustic Spectroscopy
• INTRAOSSEOUS GLOMUS TUMOR OF THE ULNA:　A CASE REPORT WITH RADIOGRAPHIC FINDINGS　AND A REVIEW OF THE LITERATURE
• OJ-079 Candesartan Decreases Carotid Intima-media Thickness through Enhancing Nitric Oxide and Decreasing Oxidative Stress in Patients with Hypertension(Hypertension, clinical-3 (H) OJ14,Oral Presentation (Japanese),The 70th Anniversary Annual Scientific
• Epidemiological and clinical studies of West syndrome in Nagasaki
• Developmental Assessment-Based Surgical Intervention for Intractable Epilepsies in Infants and Young Children
• A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia
• Quantitative EEG Analyses and Surgical Outcome After Corpus Callosotomy
• Bilateral Drug-induced Cataract in a Patient Receiving Anticonvulsant Therapy
• Maternal Uniparental Disomy for Chromosome 14 with Diabetes Mellitus
• The calming effect of a maternal breast milk odor on the human newborn infant
• A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12
• Applying secondary ion mass spectrometry to the analysis of elements in goblet cells of conjunctiva
• High Performance Ultrasonic Transducers Employing ZnO/Pyrex-glass Diaphragm Structure on a Si Substrate : Ultrasonic Transduction
• Reducing Spurious Output of Balanced Modulators by Dynamic Matching of I, Q Quadrature Paths(AD/DA, Analog Circuit and Device Technologies)
• LECTIN BINDING SITES OF RAT ROD OUTER SEGMENT AND THE EFFECT OF NEURAMINIDASE
• Retinal Vascular Obstruction and Asymptomatic Cerebral Infarction
• Immunohistochemical study of p53, p21, and PCNA in pterygium
• A Case of Uveal, Palpebral, and Orbital Invasions in Adult T-Cell Leukemia
• ACCUMULATION OF INTER-α-TRYPSIN INHIBITOR CHAINS IN HUMAN BENIGN AND MALIGNANT LIPOMATOUS TUMORS.
• Elements and organic substances in epiretinal proliferative tissue excised during vitreous surgery : analysis by time-of -flight secondary-ion mass spectrometry
• Clinical improvement of membranous nephropathy after endoscopic resection of double early gastrointestinal cancers
• 長崎県妊婦におけるサイトメガロウイルス感染の血清疫学的調査
• Micromachining of Optical Fiber Using Reactive Ion Etching and Its Application
• Miller syndrome with novel dihydroorotate dehydrogenase gene mutations
• Conjunctival swabs and corneoscleral rim cultures from corneal transplantation donors as possible early indicators for posttransplant endopthalmitis
• Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
• Comparing central retinal thickness in diabetic macular edema measured by two different spectral-domain optical coherence tomography devices
• Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
• Epidemiology of human papillomavirus genotypes in pregnant Japanese women
• Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders
• Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome
• A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12
• Japanese map of the earwax gene frequency : a nationwide collaborative study by Super Science High School Consortium
• Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
• Identification and Characterization of a Gene Encoding an ABC Transporter Expressed in the Dicarboxylic Acid-Producing Yeast Candida maltosa
• Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer

もっと見る 閉じる

スポンサーリンク