A novel KCNQ4 one-base deletion in a large pedigree with hearing loss : implication for the genotype-phenotype correlation
スポンサーリンク
概要
- 論文の詳細を見る
- Springer-Verlag Tokyoの論文
- 2006-05-01
著者
-
KOBAYASHI Toshimitsu
Department of Otolaryngology, Nagasaki University School of Medicine
-
Kobayashi Toshimitsu
Department Of Cardiovascular Surgery Tohoku University Graduate School Of Medicine
-
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
-
NARISAWA Ayumi
Department of Neurosurgery, Saitama Red Cross Hospital
-
Matsubara Yoichi
東北大学 医学系研究科遺伝病学分野
-
Matsubara Yoichi
Department Of Medical Genetics Tohoku University School Of Medicine
-
NARUMI Yoko
Department of Medical Genetics, Tohoku University School of Medicine
-
AOKI Yoko
Department of Medical Genetics, Tohoku University School of Medicine
-
NIIHORI Tetsuya
Department of Medical Genetics, Tohoku University School of Medicine
-
KURE Shigeo
Department of Medical Genetics, Tohoku University School of Medicine
-
KAMADA Fumiaki
Department of Medical Genetics, Tohoku University School of Medicine
-
KUDO Takayuki
Department of Medical Genetics, Tohoku University School of Medicine
-
SUZUKI Yoichi
Department of Medical Genetics, Tohoku University School of Medicine
-
OSHIMA Takeshi
Department of Otorhinolaryngology, Head and Neck Surgery, Tohoku University School of Medicine
-
ICHINOHE Akiko
Department of Medical Genetics, Tohoku University School of Medicine
-
KOJIMA Kanako
Department of Medical Genetics, Tohoku University School of Medicine
-
KANNO Junko
Department of Medical Genetics, Tohoku University School of Medicine
-
KATO Kumi
Department of Medical Genetics, Tohoku University School of Medicine
-
IKEDA Katsuhisa
Department of Otorhinolaryngology, Head and Neck Surgery, Tohoku University School of Medicine
-
Narumi Yoko
Department Of Medical Genetics Tohoku University School Of Medicine
-
Kamada Fumiaki
東北大学 医学部遺伝病学
-
Ichinohe Akiko
東北大学 医学部遺伝病学
-
Ichinohe Akiko
Department Of Medical Genetics Tohoku University School Of Medicine
-
Oshima Takeshi
Department Of Otorhinolaryngology Head And Neck Surgery Tohoku University School Of Medicine
-
Oshima Takeshi
東北大学 医学部遺伝病学
-
Kohno Yoichi
Department Of Pediatrics Graduate School Of Medicine Chiba University
-
Oshima Takeshi
Department Of Otorhinolaryngology Tohoku University School Of Medicine
-
Kanno Junko
Department Of Medical Genetics Tohoku University School Of Medicine
-
Kure Shigeo
Tohoku Univ. School Of Medicine Sendai Jpn
-
Kure S
Department Of Medical Genetics Tohoku University School Of Medicine
-
Kure Shigeo
Department Of Medical Genetics Tohoku University Graduate School Of Medicine
-
Kure Shigeo
Department Of Pediatrics And Biochemical Genetics Tohoku University School Of Medicine
-
Kojima Kanako
Department Of Medical Genetics Tohoku University School Of Medicine
-
Kudo T
Department Of Medical Genetics Tohoku University School Of Medicine
-
Kudo Takayuki
Department Of Obstetrics And Gynecology School Of Medicine Hokkaido University
-
Suzuki Yoichi
Department Of Public Health Chiba University Graduate School Of Medicine
-
Suzuki Yoichi
Department Of Medical Genetics Tohoku University School Of Medicine
-
Kohno Yoichi
Pediatrics Graduate School Of Medicine Chiba University
-
Iida Koji
Department of Bioengineering and Robotics, Tohoku University
-
Tabayashi Koichi
Department Of Cardiovascular Surgery Tohoku University Graduate School Of Medicine
-
Kudo Takayuki
Department Of Otorhinolaryngology Tohoku University School Of Medicine
-
Sakata Yoshiyuki
Department Of Medical Genetics Tohoku University School Of Medicine
-
Kayashima Tomohiko
Department Of Human Genetics Nagasaki University School Of Medicine
-
Oshima Takeshi
Department Of Otolaryngology Tohoku University School Of Medicine
-
Kobayashi T
Department Of Cardiovascular Surgery Tohoku University Graduate School Of Medicine
-
Iida Koji
Department Of Bioengineering And Robotics Tohoku University
-
Koike Takuji
Department Of Mechanical Engineering And Intelligent Systems The University Of Electro-communication
-
Suzuki Yoichi
Department Of Applied Chemistry Faculty Of Science And Technology Keio University
-
Suzuki Y
Department Of Medical Genetics Tohoku University School Of Medicine
-
Konno Kazuaki
Department Of Bioengineering And Robotics Tohoku University
-
Narisawa Ayumi
Department Of Neurosurgery Kohnan Hospital:department Of Neurosurgery Tohoku University Graduate Sch
-
SUZUKI Yasuyo
Department of Clinical Genetics, Medical Institute of Bioregulation, Kyushu University
-
Matsubara Y
Department Of Medical Genetics Tohoku University School Of Medicine
-
Ikeda Katsuhisa
Department Of Otolaryngology
-
Tashiro Kasumi
Department Of Pediatrics Nagasaki University School Of Medicine
-
Kudo Takayuki
Department Of Medical Genetics Tohoku University School Of Medicine
-
Ikeda Katsuhisa
Department Of Otorhinolaryngology Head And Neck Surgery Tohoku University School Of Medicine
-
Matsubara Yoichi
Department Of Medical Genetics Tohoku University Of Graduate School Of Medicine
-
Kondoh Tatsuro
Department Of Pediatrics Nagasaki University Graduate School Of Biomedical Sciences
-
YAMAGUCHI Koichi
Japanese Society of Pediatric Allergy and Clinical Immunology
-
Kato Kumi
Department Of Medical Genetics Tohoku University School Of Medicine
-
Koike Takuji
Department Of Mechanical Engineering And Intelligent Systems The University Of Electro-communication
-
Yamaguchi Koichi
Division Of Allergy National Center For Children Health And Development
-
Nagai Toshiro
Tohoku Univ. School Of Medicine Sendai Jpn
-
Narisawa Ayumi
Department Of Medical Genetics Tohoku University School Of Medicine
-
Kamada Fumiaki
Department Of Medical Genetics Tohoku University School Of Medicine
-
AOKI Yoko
Department of Food and Nutrition, Japan Women's University
-
Ikeda Katsuhisa
Department of Bioengineering and Robotics, Tohoku University
関連論文
- Presence of Genes for β-Lactamases of Two Different Classes on a Single Plasmid from a Clinical Isolate of Serratia marcescens
- Takotsubo Cardiomyopathy Induced by Dobutamine Infusion During Hypertensive Therapy for Symptomatic Vasospasm After Subarachnoid Hemorrhage : Case Report
- 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
- A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem
- Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
- Genotyping of Single Nucleotide Polymorphisms (SNPs) Influencing Drug Response by Competitive Allele-specific Short Oligonucleotide Hybridization (CASSOH) with Immunochromatographic Strip
- Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome : two missense mutations (R45Q and P396S) and a 17-kb deletion
- Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population
- 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
- Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations
- A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia
- Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy
- DINUCLEOTIDE REPEAT POLYMORPHISM IN 65k-GLUTAMATE DECARBOXYLASE GENE
- 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
- Association study of the C3 gene with adult and childhood asthma
- No Association of Polymorphisms in the 5' Region of the CD14 Gene and Food Allergy in a Japanese Population
- Effects of Probiotics on the Immune System and Allergic Diseases
- 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)
- Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness
- 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
- INTERACTION OF THE INNER EAR MOTOR PROTEIN PRESTIN WITH CHLORIDE STUDIED BY ISOTHERMAL TITRATION CALORIMETRY(2A1 Micro & Nano Biomechanics IV)
- MISFOLDING AND MISLOCALIZATION BY MUTATIONS OF THE MOTOR PROTEIN PRESTIN(2A1 Micro & Nano Biomechanics IV)
- Effects of Mutation in the Conserved GTSRH Sequence of the Motor Protein Prestin on Its Characteristics(Bioengineering)
- Relationship between Fluorescence Intensity of GFP and the Expression Level of Prestin in a Prestin-Expressing Chinese Hamster Ovary Cell Line(Bioengineering)
- Stable Expression of the Motor Protein Prestin in Chinese Hamster Ovary Cells(Bioengineering)
- Malignant Lymphoma Arising from Heterotopic Warthin's Tumor in the Neck : Case Report and Review of the Literature
- Guidelines for Diagnosis and Management of Pediatric Food Allergy in Japan
- HEAT-STRESS ACTUATED MECHANISM OF THE INNER EAR PROTECTING IT FROM TRAUMATIC NOISE EXPOSURE(2A1 Micro & Nano Biomechanics IV)
- Effects of dividing frequency in filtering for dichotic presentation to reduce masking to a consonant by the preceding vowel
- Effects of Contralateral Noise on the Measurement of Auditory Threshold
- Experimental Assessment of the Performance of an Electromagnetic Hearing Aid in Human Temporal Bones(Bioengineering)
- Effects of Individual Differences in Size and Mobility of the Middle Ear on Hearing(Bioengineering)
- High-Speed Video Observation of Tympanic Membrane Rupture in Guinea Pigs(Bioengineering)
- A Case of Basal Cell Adenocarcinoma of the Parotid Gland
- A Case of Leiomyosarcoma of the Sphenoid Sinus
- 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)
- Masked Patulous Eustachian Tube : An Important Diagnostic Precaution Before Middle Ear Surgery
- Nonrecurrent Inferior Laryngeal Nerve Without Vascular Anomaly as a Genuine Entity
- Effect of Depth of Conical-Shaped Tympanic Membrane on Middle-Ear Sound Transmission
- Measurement of Dynamic Frequency Characteristics of Guinea Pig Middle Ear by a Laser Doppler Velocimeter
- Effects of Various Decalcifying Protocols upon the Detection of DNA Strand Breakes by Terminal dUTP Nick End Labeling in Mouse Maxilla.
- Acute motor axonal neuropathy during intensive immunosuppressive therapy for macrophage activation syndrome
- Expression of Glutamate Transporter GLAST in the Developing Mouse Cochlea
- Relationship between RANTES polymorphisms and respiratory syncytial virus bronchiolitis in a Japanese infant population
- Molecular analysis of methylmalonyl-CoA mutase deficiency : identification of three missense mutations in mut^0 patients
- Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography
- Management of the Patients with Early Stage Oral Tongue Cancers
- A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia
- Maternal Uniparental Disomy for Chromosome 14 with Diabetes Mellitus
- Endoscopic Sinus Surgery in Cases of Cholesterol Granuloma of the Maxillary Sinus
- Surgical Treatment Is Recommended for Advanced Oral Squamous Cell Carcinoma
- Retropharyngeal Abscess Complicated with Torticollis : Case Report and Review of the Literature
- Role of Gbx2 and Otx2 in the formation of cochlear ganglion and endolymphatic duct
- Efficacy and safety of orally administered pilocarpine hydrochloride for patients with juvenile-onset Sjogren's syndrome
- Allelic Loss Correlated with Tissue Specificity in Head and Neck Squamous Cell Carcinomas and the Clinical Features of Patients
- Two Cases of Plunging Ranula Managed by the Intraoral Approach
- A-11 Expression of keratinocyte growth factor (KGF) and its receptor (KGFR) in middle ear cholesteatoma (MEC), Possible involvement of KGF/KGFR in enhanced proliferation of the epithelial cells
- Comparative Immunohistochemical Localizations of Aquaporin-1 and Aquaporin-4 in the Cochleae of Three Different Species of Rodents
- Japanese pediatric guidelines for the treatment and management of bronchial asthma 2008
- Miller syndrome with novel dihydroorotate dehydrogenase gene mutations
- Distinct Features of Second Primary Malignancies in Head and Neck Cancer Patients in Japan
- A New Method to Identify the Internal Auditory Canal during the Middle Cranial Fossa Approach : A Preliminary Report
- Creutzfeldt-Jakob Disease with Paralysis of the Unilateral Vocal Cord and Soft Palate
- Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
- Correct Diagnosis of Warthin Tumor in the Parotid Gland with Dynamic MRI
- 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
- Functional Expression of Prestin, the Outer Hair Cell Motor Protein, Using the Baculovirus/Insect Cell System
- Acquired Idiopathic Laryngomalacia Treated by Laser Supraglottic Laryngoplasty
- Isolated Juvenile Xanthogranuloma in the Larynx of a Three-Year-Old Child