A novel N14Y mutation in connexin26 in keratitis- ichthyosis-deafness syndrome : Analyses of altered gap junctional communication and molecular structure of N terminus of mutated connexin26
- Author
- ARITA, Ken1 ; AKIYAMA, Masashi1 ; AIZAWA, Tomoyasu2 ; UMETSU, Yoshitaka2 ; SEGAWA, Ikuo3 ; GOTO, Maki1 ; SAWAMURA, Daisuke1 ; DEMURA, Makoto2 ; KAWANO, Keiichi2 ; SHIMIZU, Hiroshi1
[1] Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
[2] Laboratory of Structural Bio-Macromolecular Science III, Division of Biological Science, Hokkaido University, Sapporo, Japan
[3] Department of Dermatology, Iwate Prefectural Central Hospital, Iwate, Japan - Source
The American journal of pathology. 2006, Vol 169, Num 2, pp 416-423, 8 p ; ref : 29 ref
- CODEN
- AJPAA4
- ISSN
- 0002-9440
- Scientific domain
- Medical oncology; Medical laboratory techniques; General medicine general surgery
- Publisher
- American Society for Investigative Pathology, Bethesda, MD
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Anatomopathologie Communication Génétique Jonction communicante KID syndrome Mutation Structure moléculaire Séquence N terminale Dyskératose Jonction cellulaire ORL pathologie Oeil pathologie Peau pathologie Syndrome complexe Trouble audition
- Keyword (en)
- Anatomic pathology Communication Genetics Gap junction KID syndrome Mutation Molecular structure N terminal-Sequence Dyskeratosis Cell junction ENT disease Eye disease Skin disease Complex syndrome Auditory disorder
- Keyword (es)
- Anatomía patológica Comunicación Genética Unión comunicante KID síndrome Mutación Estructura molecular Secuencia N terminal Disqueratosis Unión celular ORL patología Ojo patología Piel patología Síndrome complejo Trastorno auditivo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B24 Investigative techniques, diagnostic techniques (general aspects) / 002B24O Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques
- Discipline
- Medical genetics Scanning and diagnostic techniques
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 17986550
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
Install on your browser
"O:13:\"PanistOpenUrl\":36:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000idc\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:189:\"A novel N14Y mutation in connexin26 in keratitis- ichthyosis-deafness syndrome : Analyses of altered gap junctional communication and molecular structure of N terminus of mutated connexin26\";s:9:\"\u0000*\u0000jtitle\";s:33:\"The American journal of pathology\";s:9:\"\u0000*\u0000stitle\";s:13:\"Am. j. pathol\";s:7:\"\u0000*\u0000date\";s:4:\"2006\";s:9:\"\u0000*\u0000volume\";s:3:\"169\";s:8:\"\u0000*\u0000issue\";s:1:\"2\";s:8:\"\u0000*\u0000spage\";s:3:\"416\";s:8:\"\u0000*\u0000epage\";s:3:\"423\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0002-9440\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"ARITA\";s:10:\"\u0000*\u0000aufirst\";s:3:\"Ken\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:16:\"AKIYAMA, Masashi\";i:1;s:16:\"AIZAWA, Tomoyasu\";i:2;s:17:\"UMETSU, Yoshitaka\";i:3;s:12:\"SEGAWA, Ikuo\";i:4;s:10:\"GOTO, Maki\";i:5;s:17:\"SAWAMURA, Daisuke\";i:6;s:14:\"DEMURA, Makoto\";i:7;s:15:\"KAWANO, Keiichi\";i:8;s:16:\"SHIMIZU, Hiroshi\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJPAA4\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:189:\"A novel N14Y mutation in connexin26 in keratitis- ichthyosis-deafness syndrome : Analyses of altered gap junctional communication and molecular structure of N terminus of mutated connexin26\";s:8:\"\u0000*\u0000place\";s:12:\"Bethesda, MD\";s:6:\"\u0000*\u0000pub\";s:44:\"American Society for Investigative Pathology\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Panist access
"O:12:\"IstexOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:189:\"A novel N14Y mutation in connexin26 in keratitis- ichthyosis-deafness syndrome : Analyses of altered gap junctional communication and molecular structure of N terminus of mutated connexin26\";s:9:\"\u0000*\u0000jtitle\";s:33:\"The American journal of pathology\";s:9:\"\u0000*\u0000stitle\";s:13:\"Am. j. pathol\";s:7:\"\u0000*\u0000date\";s:4:\"2006\";s:9:\"\u0000*\u0000volume\";s:3:\"169\";s:8:\"\u0000*\u0000issue\";s:1:\"2\";s:8:\"\u0000*\u0000spage\";s:3:\"416\";s:8:\"\u0000*\u0000epage\";s:3:\"423\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0002-9440\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"ARITA\";s:10:\"\u0000*\u0000aufirst\";s:3:\"Ken\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:16:\"AKIYAMA, Masashi\";i:1;s:16:\"AIZAWA, Tomoyasu\";i:2;s:17:\"UMETSU, Yoshitaka\";i:3;s:12:\"SEGAWA, Ikuo\";i:4;s:10:\"GOTO, Maki\";i:5;s:17:\"SAWAMURA, Daisuke\";i:6;s:14:\"DEMURA, Makoto\";i:7;s:15:\"KAWANO, Keiichi\";i:8;s:16:\"SHIMIZU, Hiroshi\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJPAA4\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:189:\"A novel N14Y mutation in connexin26 in keratitis- ichthyosis-deafness syndrome : Analyses of altered gap junctional communication and molecular structure of N terminus of mutated connexin26\";s:8:\"\u0000*\u0000place\";s:12:\"Bethesda, MD\";s:6:\"\u0000*\u0000pub\";s:44:\"American Society for Investigative Pathology\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Istex access
"O:16:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:189:\"A novel N14Y mutation in connexin26 in keratitis- ichthyosis-deafness syndrome : Analyses of altered gap junctional communication and molecular structure of N terminus of mutated connexin26\";s:9:\"\u0000*\u0000jtitle\";s:33:\"The American journal of pathology\";s:9:\"\u0000*\u0000stitle\";s:13:\"Am. j. pathol\";s:7:\"\u0000*\u0000date\";s:4:\"2006\";s:9:\"\u0000*\u0000volume\";s:3:\"169\";s:8:\"\u0000*\u0000issue\";s:1:\"2\";s:8:\"\u0000*\u0000spage\";s:3:\"416\";s:8:\"\u0000*\u0000epage\";s:3:\"423\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0002-9440\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"ARITA\";s:10:\"\u0000*\u0000aufirst\";s:3:\"Ken\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:16:\"AKIYAMA, Masashi\";i:1;s:16:\"AIZAWA, Tomoyasu\";i:2;s:17:\"UMETSU, Yoshitaka\";i:3;s:12:\"SEGAWA, Ikuo\";i:4;s:10:\"GOTO, Maki\";i:5;s:17:\"SAWAMURA, Daisuke\";i:6;s:14:\"DEMURA, Makoto\";i:7;s:15:\"KAWANO, Keiichi\";i:8;s:16:\"SHIMIZU, Hiroshi\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJPAA4\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:189:\"A novel N14Y mutation in connexin26 in keratitis- ichthyosis-deafness syndrome : Analyses of altered gap junctional communication and molecular structure of N terminus of mutated connexin26\";s:8:\"\u0000*\u0000place\";s:12:\"Bethesda, MD\";s:6:\"\u0000*\u0000pub\";s:44:\"American Society for Investigative Pathology\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Europe PubMed Central access
"O:11:\"BaseOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:189:\"A novel N14Y mutation in connexin26 in keratitis- ichthyosis-deafness syndrome : Analyses of altered gap junctional communication and molecular structure of N terminus of mutated connexin26\";s:9:\"\u0000*\u0000jtitle\";s:33:\"The American journal of pathology\";s:9:\"\u0000*\u0000stitle\";s:13:\"Am. j. pathol\";s:7:\"\u0000*\u0000date\";s:4:\"2006\";s:9:\"\u0000*\u0000volume\";s:3:\"169\";s:8:\"\u0000*\u0000issue\";s:1:\"2\";s:8:\"\u0000*\u0000spage\";s:3:\"416\";s:8:\"\u0000*\u0000epage\";s:3:\"423\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0002-9440\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"ARITA\";s:10:\"\u0000*\u0000aufirst\";s:3:\"Ken\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:16:\"AKIYAMA, Masashi\";i:1;s:16:\"AIZAWA, Tomoyasu\";i:2;s:17:\"UMETSU, Yoshitaka\";i:3;s:12:\"SEGAWA, Ikuo\";i:4;s:10:\"GOTO, Maki\";i:5;s:17:\"SAWAMURA, Daisuke\";i:6;s:14:\"DEMURA, Makoto\";i:7;s:15:\"KAWANO, Keiichi\";i:8;s:16:\"SHIMIZU, Hiroshi\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJPAA4\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:189:\"A novel N14Y mutation in connexin26 in keratitis- ichthyosis-deafness syndrome : Analyses of altered gap junctional communication and molecular structure of N terminus of mutated connexin26\";s:8:\"\u0000*\u0000place\";s:12:\"Bethesda, MD\";s:6:\"\u0000*\u0000pub\";s:44:\"American Society for Investigative Pathology\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Base Search access
"O:12:\"ArXivOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:189:\"A novel N14Y mutation in connexin26 in keratitis- ichthyosis-deafness syndrome : Analyses of altered gap junctional communication and molecular structure of N terminus of mutated connexin26\";s:9:\"\u0000*\u0000jtitle\";s:33:\"The American journal of pathology\";s:9:\"\u0000*\u0000stitle\";s:13:\"Am. j. pathol\";s:7:\"\u0000*\u0000date\";s:4:\"2006\";s:9:\"\u0000*\u0000volume\";s:3:\"169\";s:8:\"\u0000*\u0000issue\";s:1:\"2\";s:8:\"\u0000*\u0000spage\";s:3:\"416\";s:8:\"\u0000*\u0000epage\";s:3:\"423\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0002-9440\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"ARITA\";s:10:\"\u0000*\u0000aufirst\";s:3:\"Ken\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:16:\"AKIYAMA, Masashi\";i:1;s:16:\"AIZAWA, Tomoyasu\";i:2;s:17:\"UMETSU, Yoshitaka\";i:3;s:12:\"SEGAWA, Ikuo\";i:4;s:10:\"GOTO, Maki\";i:5;s:17:\"SAWAMURA, Daisuke\";i:6;s:14:\"DEMURA, Makoto\";i:7;s:15:\"KAWANO, Keiichi\";i:8;s:16:\"SHIMIZU, Hiroshi\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJPAA4\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:189:\"A novel N14Y mutation in connexin26 in keratitis- ichthyosis-deafness syndrome : Analyses of altered gap junctional communication and molecular structure of N terminus of mutated connexin26\";s:8:\"\u0000*\u0000place\";s:12:\"Bethesda, MD\";s:6:\"\u0000*\u0000pub\";s:44:\"American Society for Investigative Pathology\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
arXiv access
