Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation
Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation. It is often characterized by isolated conduction disturbance of the His-Purkinje system, but it is rarely described as a syndromic form. The authors sou...
Saved in:
| Published in | Journal of the American College of Cardiology Vol. 70; no. 3; pp. 358 - 370 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
18.07.2017
Elsevier Limited Elsevier |
| Series | Equipe I |
| Subjects | |
| Online Access | Get full text |
Cover
Loading…
| Abstract | Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation. It is often characterized by isolated conduction disturbance of the His-Purkinje system, but it is rarely described as a syndromic form.
The authors sought to identify the genetic defect in families with a novel bradyarrhythmia syndrome associated with bone malformation.
The authors genetically screened 15 European cases with genotype-negative de novo atrioventricular (AV) block and their parents by trio whole-exome sequencing, plus 31 Japanese cases with genotype-negative familial AV block or sick sinus syndrome by targeted exon sequencing of 457 susceptibility genes. Functional consequences of the mutation were evaluated using an in vitro cell expression system and in vivo knockout mice.
The authors identified a connexin-45 (Cx45) mutation (p.R75H) in 2 unrelated families (a de novo French case and a 3-generation Japanese family) who presented with progressive AV block, which resulted in atrial standstill without ventricular conduction abnormalities. Affected individuals shared a common extracardiac phenotype: a brachyfacial pattern, finger deformity, and dental dysplasia. Mutant Cx45 expressed in Neuro-2a cells showed normal hemichannel assembly and plaque formation. However, Lucifer yellow dye transfer and gap junction conductance between cell pairs were severely impaired, which suggested that mutant Cx45 impedes gap junction communication in a dominant-negative manner. Tamoxifen-induced, cardiac-specific Cx45 knockout mice showed sinus node dysfunction and atrial arrhythmia, recapitulating the intra-atrial disturbance.
Altogether, the authors showed that Cx45 mutant p.R75H is responsible for a novel disease entity of progressive atrial conduction system defects associated with craniofacial and dentodigital malformation.
[Display omitted] |
|---|---|
| AbstractList | BACKGROUND: Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation. It is often characterized by isolated conduction disturbance of the His-Purkinje system, but it is rarely described as a syndromic form. OBJECTIVES: The authors sought to identify the genetic defect in families with a novel bradyarrhythmia syndrome associated with bone malformation. METHODS: The authors genetically screened 15 European cases with genotype-negative de novo atrioventricular (AV) block and their parents by trio whole-exome sequencing, plus 31 Japanese cases with genotype-negative familial AV block or sick sinus syndrome by targeted exon sequencing of 457 susceptibility genes. Functional consequences of the mutation were evaluated using an in vitro cell expression system and in vivo knockout mice. RESULTS: The authors identified a connexin-45 (Cx45) mutation (p.R75H) in 2 unrelated families (a de novo French case and a 3-generation Japanese family) who presented with progressive AV block, which resulted in atrial standstill without ventricular conduction abnormalities. Affected individuals shared a common extracardiac phenotype: a brachyfacial pattern, finger deformity, and dental dysplasia. Mutant Cx45 expressed in Neuro-2a cells showed normal hemichannel assembly and plaque formation. However, Lucifer yellow dye transfer and gap junction conductance between cell pairs were severely impaired, which suggested that mutant Cx45 impedes gap junction communication in a dominant-negative manner. Tamoxifen-induced, cardiac-specific Cx45 knockout mice showed sinus node dysfunction and atrial arrhythmia, recapitulating the intra-atrial disturbance. CONCLUSIONS: Altogether, the authors showed that Cx45 mutant p.R75H is responsible for a novel disease entity of progressive atrial conduction system defects associated with craniofacial and dentodigital malformation. Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation. It is often characterized by isolated conduction disturbance of the His-Purkinje system, but it is rarely described as a syndromic form. The authors sought to identify the genetic defect in families with a novel bradyarrhythmia syndrome associated with bone malformation. The authors genetically screened 15 European cases with genotype-negative de novo atrioventricular (AV) block and their parents by trio whole-exome sequencing, plus 31 Japanese cases with genotype-negative familial AV block or sick sinus syndrome by targeted exon sequencing of 457 susceptibility genes. Functional consequences of the mutation were evaluated using an in vitro cell expression system and in vivo knockout mice. The authors identified a connexin-45 (Cx45) mutation (p.R75H) in 2 unrelated families (a de novo French case and a 3-generation Japanese family) who presented with progressive AV block, which resulted in atrial standstill without ventricular conduction abnormalities. Affected individuals shared a common extracardiac phenotype: a brachyfacial pattern, finger deformity, and dental dysplasia. Mutant Cx45 expressed in Neuro-2a cells showed normal hemichannel assembly and plaque formation. However, Lucifer yellow dye transfer and gap junction conductance between cell pairs were severely impaired, which suggested that mutant Cx45 impedes gap junction communication in a dominant-negative manner. Tamoxifen-induced, cardiac-specific Cx45 knockout mice showed sinus node dysfunction and atrial arrhythmia, recapitulating the intra-atrial disturbance. Altogether, the authors showed that Cx45 mutant p.R75H is responsible for a novel disease entity of progressive atrial conduction system defects associated with craniofacial and dentodigital malformation. BACKGROUNDInherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation. It is often characterized by isolated conduction disturbance of the His-Purkinje system, but it is rarely described as a syndromic form.OBJECTIVESThe authors sought to identify the genetic defect in families with a novel bradyarrhythmia syndrome associated with bone malformation.METHODSThe authors genetically screened 15 European cases with genotype-negative de novo atrioventricular (AV) block and their parents by trio whole-exome sequencing, plus 31 Japanese cases with genotype-negative familial AV block or sick sinus syndrome by targeted exon sequencing of 457 susceptibility genes. Functional consequences of the mutation were evaluated using an in vitro cell expression system and in vivo knockout mice.RESULTSThe authors identified a connexin-45 (Cx45) mutation (p.R75H) in 2 unrelated families (a de novo French case and a 3-generation Japanese family) who presented with progressive AV block, which resulted in atrial standstill without ventricular conduction abnormalities. Affected individuals shared a common extracardiac phenotype: a brachyfacial pattern, finger deformity, and dental dysplasia. Mutant Cx45 expressed in Neuro-2a cells showed normal hemichannel assembly and plaque formation. However, Lucifer yellow dye transfer and gap junction conductance between cell pairs were severely impaired, which suggested that mutant Cx45 impedes gap junction communication in a dominant-negative manner. Tamoxifen-induced, cardiac-specific Cx45 knockout mice showed sinus node dysfunction and atrial arrhythmia, recapitulating the intra-atrial disturbance.CONCLUSIONSAltogether, the authors showed that Cx45 mutant p.R75H is responsible for a novel disease entity of progressive atrial conduction system defects associated with craniofacial and dentodigital malformation. Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation. It is often characterized by isolated conduction disturbance of the His-Purkinje system, but it is rarely described as a syndromic form. The authors sought to identify the genetic defect in families with a novel bradyarrhythmia syndrome associated with bone malformation. The authors genetically screened 15 European cases with genotype-negative de novo atrioventricular (AV) block and their parents by trio whole-exome sequencing, plus 31 Japanese cases with genotype-negative familial AV block or sick sinus syndrome by targeted exon sequencing of 457 susceptibility genes. Functional consequences of the mutation were evaluated using an in vitro cell expression system and in vivo knockout mice. The authors identified a connexin-45 (Cx45) mutation (p.R75H) in 2 unrelated families (a de novo French case and a 3-generation Japanese family) who presented with progressive AV block, which resulted in atrial standstill without ventricular conduction abnormalities. Affected individuals shared a common extracardiac phenotype: a brachyfacial pattern, finger deformity, and dental dysplasia. Mutant Cx45 expressed in Neuro-2a cells showed normal hemichannel assembly and plaque formation. However, Lucifer yellow dye transfer and gap junction conductance between cell pairs were severely impaired, which suggested that mutant Cx45 impedes gap junction communication in a dominant-negative manner. Tamoxifen-induced, cardiac-specific Cx45 knockout mice showed sinus node dysfunction and atrial arrhythmia, recapitulating the intra-atrial disturbance. Altogether, the authors showed that Cx45 mutant p.R75H is responsible for a novel disease entity of progressive atrial conduction system defects associated with craniofacial and dentodigital malformation. [Display omitted] Background Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation. It is often characterized by isolated conduction disturbance of the His-Purkinje system, but it is rarely described as a syndromic form. Objectives The authors sought to identify the genetic defect in families with a novel bradyarrhythmia syndrome associated with bone malformation. Methods The authors genetically screened 15 European cases with genotype-negative de novo atrioventricular (AV) block and their parents by trio whole-exome sequencing, plus 31 Japanese cases with genotype-negative familial AV block or sick sinus syndrome by targeted exon sequencing of 457 susceptibility genes. Functional consequences of the mutation were evaluated using an in vitro cell expression system and in vivo knockout mice. Results The authors identified a connexin-45 (Cx45) mutation (p.R75H) in 2 unrelated families (a de novo French case and a 3-generation Japanese family) who presented with progressive AV block, which resulted in atrial standstill without ventricular conduction abnormalities. Affected individuals shared a common extracardiac phenotype: a brachyfacial pattern, finger deformity, and dental dysplasia. Mutant Cx45 expressed in Neuro-2a cells showed normal hemichannel assembly and plaque formation. However, Lucifer yellow dye transfer and gap junction conductance between cell pairs were severely impaired, which suggested that mutant Cx45 impedes gap junction communication in a dominant-negative manner. Tamoxifen-induced, cardiac-specific Cx45 knockout mice showed sinus node dysfunction and atrial arrhythmia, recapitulating the intra-atrial disturbance. Conclusions Altogether, the authors showed that Cx45 mutant p.R75H is responsible for a novel disease entity of progressive atrial conduction system defects associated with craniofacial and dentodigital malformation. |
| Author | Redon, Richard Otsuki, Saki Kimoto, Hiroki Urano, Mari Le Marec, Hervé Horie, Minoru Probst, Vincent Makita, Naomasa Saito, Kayoko Ohno, Seiko Schott, Jean-Jacques Baruteau, Alban-Elouen Barc, Julien Parent, Philippe Shibata, Yosaburo Bonnaud, Stéphanie Perrin, Jean-Philippe Hagiwara, Nobuhisa Mercier, Sandra Nishii, Kiyomasa Yoshiura, Koh-Ichiro Mishima, Hiroyuki Daumy, Xavier Seki, Akiko Sasaki, Ryo Ishikawa, Taisuke Fouchard, Swanny Thollet, Aurelie |
| Author_xml | – sequence: 1 givenname: Akiko surname: Seki fullname: Seki, Akiko organization: Department of Cardiology, Tokyo Women’s Medical University, Tokyo, Japan – sequence: 2 givenname: Taisuke surname: Ishikawa fullname: Ishikawa, Taisuke organization: Department of Molecular Physiology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan – sequence: 3 givenname: Xavier surname: Daumy fullname: Daumy, Xavier organization: INSERM, CNRS, UNIV Nantes, L’Institut du Thorax, Nantes, France – sequence: 4 givenname: Hiroyuki surname: Mishima fullname: Mishima, Hiroyuki organization: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan – sequence: 5 givenname: Julien surname: Barc fullname: Barc, Julien organization: INSERM, CNRS, UNIV Nantes, L’Institut du Thorax, Nantes, France – sequence: 6 givenname: Ryo surname: Sasaki fullname: Sasaki, Ryo organization: Department of Oral and Maxillofacial Surgery, Tokyo Women’s Medical University, Tokyo, Japan – sequence: 7 givenname: Kiyomasa surname: Nishii fullname: Nishii, Kiyomasa organization: Department of Anatomy and Neurobiology, National Defense Medical College, Tokorozawa, Japan – sequence: 8 givenname: Kayoko surname: Saito fullname: Saito, Kayoko organization: Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan – sequence: 9 givenname: Mari surname: Urano fullname: Urano, Mari organization: Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan – sequence: 10 givenname: Seiko surname: Ohno fullname: Ohno, Seiko organization: Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Japan – sequence: 11 givenname: Saki surname: Otsuki fullname: Otsuki, Saki organization: Department of Molecular Physiology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan – sequence: 12 givenname: Hiroki surname: Kimoto fullname: Kimoto, Hiroki organization: Department of Molecular Physiology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan – sequence: 13 givenname: Alban-Elouen surname: Baruteau fullname: Baruteau, Alban-Elouen organization: INSERM, CNRS, UNIV Nantes, L’Institut du Thorax, Nantes, France – sequence: 14 givenname: Aurelie surname: Thollet fullname: Thollet, Aurelie organization: CHU Nantes, L’institut du thorax, Service de Cardiologie, Nantes, France – sequence: 15 givenname: Swanny surname: Fouchard fullname: Fouchard, Swanny organization: CHU Nantes, L’institut du thorax, Service de Cardiologie, Nantes, France – sequence: 16 givenname: Stéphanie surname: Bonnaud fullname: Bonnaud, Stéphanie organization: INSERM, CNRS, UNIV Nantes, L’Institut du Thorax, Nantes, France – sequence: 17 givenname: Philippe surname: Parent fullname: Parent, Philippe organization: CHRU Brest, Service de Génétique, Brest, France – sequence: 18 givenname: Yosaburo surname: Shibata fullname: Shibata, Yosaburo organization: Fukuoka Prefectural University, Tagawa, Japan – sequence: 19 givenname: Jean-Philippe surname: Perrin fullname: Perrin, Jean-Philippe organization: CHU Nantes, Service de Chirurgie Maxillo-Faciale et Stomatologie, Nantes, France – sequence: 20 givenname: Hervé surname: Le Marec fullname: Le Marec, Hervé organization: INSERM, CNRS, UNIV Nantes, L’Institut du Thorax, Nantes, France – sequence: 21 givenname: Nobuhisa surname: Hagiwara fullname: Hagiwara, Nobuhisa organization: Department of Cardiology, Tokyo Women’s Medical University, Tokyo, Japan – sequence: 22 givenname: Sandra surname: Mercier fullname: Mercier, Sandra organization: CHU Nantes, Service de Génétique Médicale, Nantes, France – sequence: 23 givenname: Minoru surname: Horie fullname: Horie, Minoru organization: Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Japan – sequence: 24 givenname: Vincent surname: Probst fullname: Probst, Vincent organization: INSERM, CNRS, UNIV Nantes, L’Institut du Thorax, Nantes, France – sequence: 25 givenname: Koh-Ichiro surname: Yoshiura fullname: Yoshiura, Koh-Ichiro organization: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan – sequence: 26 givenname: Richard surname: Redon fullname: Redon, Richard organization: INSERM, CNRS, UNIV Nantes, L’Institut du Thorax, Nantes, France – sequence: 27 givenname: Jean-Jacques surname: Schott fullname: Schott, Jean-Jacques email: jjschott@univ-nantes.fr organization: INSERM, CNRS, UNIV Nantes, L’Institut du Thorax, Nantes, France – sequence: 28 givenname: Naomasa surname: Makita fullname: Makita, Naomasa email: makitan@nagasaki-u.ac.jp organization: Department of Molecular Physiology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/28705318$$D View this record in MEDLINE/PubMed https://hal.science/hal-01832148$$DView record in HAL |
| BookMark | eNp9kU1v1DAQhi3Uim4Lf4ADisSlHBLsxI5ticuyfBRpKziAOFqOPWYdZeNiJ6v23-N02x44cBrJ88yr8Tzn6GQMIyD0iuCKYNK-66teG1PVmPAKswo38hlaEcZE2TDJT9AK84aVBEt-hs5T6jHGrSDyOTqrBcesIWKFdt9j-B0hJX-AYj1Fr4diE0Y7m8mHsfgIDsyUinVKwXg9gS1--WlXfMibFNd6cCHu9T250XPK3e6u0EvACLd-LCkrrufpHniBTp0eErx8qBfo5-dPPzZX5fbbl6-b9bY0tK2n0uCaCAlct1ZyYizrrJaWO0ldS8E50lItjQbZWKkb44AB40J0jNJOCsDNBXp7zN3pQd1Ev9fxTgXt1dV6q5Y3TERTEyoOJLOXR_Ymhj8zpEntfTIwDHqEMCdFZL6tpC1f0Df_oH2Y45h_kqnMUMEEy1R9pEwMKUVwTxsQrBZnqleLM7U4U5ip7CwPvX6Inrs92KeRR0kZeH8EIN_t4CGqZDyMBqyP2Y6ywf8v_y93baiw |
| CitedBy_id | crossref_primary_10_1161_CIRCRESAHA_117_312576 crossref_primary_10_3390_biology11040489 crossref_primary_10_1016_j_jacc_2017_06_003 crossref_primary_10_1016_j_yjmcc_2020_04_004 crossref_primary_10_1161_CIRCEP_120_008712 crossref_primary_10_1161_CIRCRESAHA_119_315539 crossref_primary_10_1016_j_trsl_2021_02_008 crossref_primary_10_1016_j_tcb_2021_07_007 crossref_primary_10_1093_europace_euac030 crossref_primary_10_1186_s12864_018_5379_1 crossref_primary_10_1002_joa3_12717 crossref_primary_10_1042_BCJ20240016 crossref_primary_10_3390_ijms22157832 crossref_primary_10_1080_14728222_2024_2351501 crossref_primary_10_1002_ccr3_1865 crossref_primary_10_1042_BCJ20230081 crossref_primary_10_1152_ajpheart_00618_2022 crossref_primary_10_3390_ijms23084255 crossref_primary_10_1152_physrev_00021_2022 crossref_primary_10_1016_j_hrthm_2022_03_1225 crossref_primary_10_3389_fonc_2018_00646 crossref_primary_10_1155_2020_2415850 crossref_primary_10_3390_biology12030346 crossref_primary_10_1016_j_hrthm_2020_12_033 |
| Cites_doi | 10.1016/j.mod.2016.02.003 10.1161/01.CIR.99.11.1508 10.1002/cphy.c110051 10.1172/JCI15183 10.1007/s00439-005-0029-5 10.1161/CIRCRESAHA.112.270561 10.1016/j.nbd.2010.01.010 10.1006/nbdi.2002.0545 10.1016/S0033-0620(64)80001-3 10.1038/nature07869 10.1097/HCO.0000000000000134 10.1136/jmg.2004.018333 10.1242/dev.127.16.3501 10.1002/humu.9220 10.1074/jbc.M112.392670 10.1161/CIRCEP.111.967604 10.1016/S0033-0620(64)80005-0 10.1093/cvr/cvu195 10.1016/j.yexcr.2014.01.003 10.1038/ng0197-21 10.1038/ng0396-254 10.1056/NEJM197712012972203 10.1161/hh1301.092687 10.1161/CIRCULATIONAHA.111.069161 10.1074/jbc.M100303200 10.1016/j.cardiores.2006.07.026 10.1086/346090 10.1091/mbc.9.8.2249 10.1111/j.1399-0004.2005.00468.x 10.1038/ng0197-30 10.4161/chan.5.6.18523 10.1016/j.yjmcc.2008.12.007 10.1161/CIRCULATIONAHA.110.942284 |
| ContentType | Journal Article |
| Copyright | 2017 American College of Cardiology Foundation Copyright © 2017 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved. Copyright Elsevier Limited Jul 18, 2017 Distributed under a Creative Commons Attribution 4.0 International License |
| Copyright_xml | – notice: 2017 American College of Cardiology Foundation – notice: Copyright © 2017 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved. – notice: Copyright Elsevier Limited Jul 18, 2017 – notice: Distributed under a Creative Commons Attribution 4.0 International License |
| DBID | 6I. AAFTH CGR CUY CVF ECM EIF NPM AAYXX CITATION 7T5 7TK H94 K9. NAPCQ 7X8 1XC VOOES |
| DOI | 10.1016/j.jacc.2017.05.039 |
| DatabaseName | ScienceDirect Open Access Titles Elsevier:ScienceDirect:Open Access Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed CrossRef Immunology Abstracts Neurosciences Abstracts AIDS and Cancer Research Abstracts ProQuest Health & Medical Complete (Alumni) Nursing & Allied Health Premium MEDLINE - Academic Hyper Article en Ligne (HAL) Hyper Article en Ligne (HAL) (Open Access) |
| DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) CrossRef AIDS and Cancer Research Abstracts ProQuest Health & Medical Complete (Alumni) Nursing & Allied Health Premium Immunology Abstracts Neurosciences Abstracts MEDLINE - Academic |
| DatabaseTitleList | MEDLINE MEDLINE - Academic AIDS and Cancer Research Abstracts |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| EISSN | 1558-3597 |
| EndPage | 370 |
| ExternalDocumentID | oai_HAL_hal_01832148v1 10_1016_j_jacc_2017_05_039 28705318 S0735109717374971 |
| Genre | Journal Article |
| GroupedDBID | --- --K --M .1- .FO .~1 0R~ 18M 1B1 1P~ 1~. 1~5 2WC 3V. 4.4 457 4G. 53G 5GY 5RE 5VS 6I. 6PF 7-5 71M 7RV 8P~ AABNK AABVL AACTN AAEDT AAEDW AAFTH AAIAV AAIKJ AAKUH AAOAW AAQFI AAXUO ABBQC ABFNM ABFRF ABJNI ABLJU ABMAC ABMZM ABOCM ABVKL ACGFO ACGFS ACIUM ACJTP ACPRK ADBBV ADEZE AEFWE AEKER AENEX AEVXI AEXQZ AFRAH AFRHN AFTJW AGYEJ AHMBA AITUG AJOXV AJRQY ALMA_UNASSIGNED_HOLDINGS AMFUW AMRAJ BAWUL BENPR BLXMC BPHCQ CS3 DIK DU5 E3Z EBS EFLBG EJD EO8 EO9 EP2 EP3 F5P FDB FEDTE FNPLU G-Q GBLVA GX1 HVGLF IHE IXB J1W K-O KQ8 L7B LCYCR MO0 N9A NAHTW NCXOZ O-L O9- OA. OAUVE OK1 OL~ OZT P-8 P-9 P2P PC. PQQKQ PROAC Q38 RIG ROL RPZ SCC SDF SDG SDP SES SSZ T5K TR2 UNMZH UV1 W8F WH7 WOQ WOW YYM YZZ Z5R ZA5 0SF AALRI ADVLN AFCTW AFETI AKRWK CGR CUY CVF ECM EIF H13 NPM .55 .GJ 1CY 29L 3O- AAQQT AAQXK AAYOK AAYXX ABXDB ADMUD AFFNX AGHFR ASPBG AVWKF AZFZN CITATION FGOYB HX~ HZ~ J5H N4W QTD R2- SEW X7M XPP YYP ZGI ZXP 7T5 7TK H94 K9. NAPCQ 7X8 1XC VOOES |
| ID | FETCH-LOGICAL-c462t-c02189e7a6d971cd5bda9d7f94f64eff164a9cae93d9a3cfe5e5788b544b98e03 |
| IEDL.DBID | IXB |
| ISSN | 0735-1097 |
| IngestDate | Fri Oct 18 06:44:55 EDT 2024 Fri Oct 25 11:40:47 EDT 2024 Thu Nov 07 04:37:26 EST 2024 Thu Sep 12 17:28:39 EDT 2024 Wed Oct 16 00:49:53 EDT 2024 Fri Feb 23 02:23:10 EST 2024 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 3 |
| Keywords | congenital atrioventricular block knockout mice GJ dentodigital dysplasia CCD brachyfacial pattern ECG connexin-45 SA ODDD SSS AV Cx N2A whole-exome sequencing PM WT |
| Language | English |
| License | This article is made available under the Elsevier license. Copyright © 2017 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved. Distributed under a Creative Commons Attribution 4.0 International License: http://creativecommons.org/licenses/by/4.0 |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c462t-c02189e7a6d971cd5bda9d7f94f64eff164a9cae93d9a3cfe5e5788b544b98e03 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
| ORCID | 0000-0002-9578-9475 0000-0002-6627-8748 0000-0003-2548-7858 0000-0001-7751-2280 0000-0003-4106-5946 |
| OpenAccessLink | https://www.sciencedirect.com/science/article/pii/S0735109717374971 |
| PMID | 28705318 |
| PQID | 1919448585 |
| PQPubID | 2031078 |
| PageCount | 13 |
| ParticipantIDs | hal_primary_oai_HAL_hal_01832148v1 proquest_miscellaneous_1920194671 proquest_journals_1919448585 crossref_primary_10_1016_j_jacc_2017_05_039 pubmed_primary_28705318 elsevier_sciencedirect_doi_10_1016_j_jacc_2017_05_039 |
| PublicationCentury | 2000 |
| PublicationDate | 2017-07-18 |
| PublicationDateYYYYMMDD | 2017-07-18 |
| PublicationDate_xml | – month: 07 year: 2017 text: 2017-07-18 day: 18 |
| PublicationDecade | 2010 |
| PublicationPlace | United States |
| PublicationPlace_xml | – name: United States – name: New York |
| PublicationSeriesTitle | Equipe I |
| PublicationTitle | Journal of the American College of Cardiology |
| PublicationTitleAlternate | J Am Coll Cardiol |
| PublicationYear | 2017 |
| Publisher | Elsevier Inc Elsevier Limited Elsevier |
| Publisher_xml | – name: Elsevier Inc – name: Elsevier Limited – name: Elsevier |
| References | Baruteau, Probst, Abriel (bib6) 2015; 30 Sohal, Nghiem, Crackower (bib19) 2001; 89 Pizzuti, Flex, Mingarelli, Salpietro, Zelante, Dallapiccola (bib30) 2004; 23 Michaelsson, Engle (bib11) 1972; 4 Ricketts, Bench, Gugino, Hilgers, Schulhof (bib15) 1979 Nishii, Seki, Kumai (bib18) 2016; 140 Makita, Seki, Sumitomo (bib17) 2012; 5 Brink, Torrington (bib23) 1977; 52 Basson, Bachinsky, Lin (bib9) 1997; 15 Li, Newbury-Ecob, Terrett (bib8) 1997; 15 Burdon, Wirth, Mackey (bib33) 2004; 41 Piazza, Beltramello, Menniti (bib16) 2005; 68 Agullo-Pascual, Lin, Leo-Macias (bib29) 2014; 104 Hagendorff, Schumacher, Kirchhoff, Luderitz, Willecke (bib20) 1999; 99 Paznekas, Boyadjiev, Shapiro (bib25) 2003; 72 Chameides, Truex, Vetter, Rashkind, Galioto, Noonan (bib12) 1977; 297 Baruteau, Behaghel, Fouchard (bib13) 2012; 126 Nielsen, Axelsen, Sorgen, Verma, Delmar, Holstein-Rathlou (bib26) 2012; 2 Olgin, Zipes (bib14) 2001 Bell (bib21) 1951 Lenègre (bib3) 1964; 6 Laing, Manley-Markowski, Koval, Civitelli, Steinberg (bib28) 2001; 276 Maeda, Nakagawa, Suga (bib22) 2009; 458 Ambrosi, Sonesson, Wahren-Herlenius (bib2) 2014; 325 Yum, Kleopa, Shumas, Scherer (bib31) 2002; 11 Frank, Wirth, Andrie (bib36) 2012; 111 Yamamoto, Dobrzynski, Tellez (bib37) 2006; 72 Bao, Kanter, Huang (bib38) 2011; 5 Tristani-Firouzi, Jensen, Donaldson (bib7) 2002; 110 Abrams, Islam, Mahmoud, Kwon, Bargiello, Freidin (bib34) 2013; 288 Fernandez, Moolman-Smook, Brink, Corfield (bib24) 2005; 118 Lecanda, Towler, Ziambaras (bib27) 1998; 9 Lev (bib4) 1964; 6 Park, Fishman (bib5) 2011; 123 Nagano, Koga, Ogawa (bib10) 1996; 12 Kreuzberg, Liebermann, Segschneider (bib35) 2009; 46 Kumai, Nishii, Nakamura, Takeda, Suzuki, Shibata (bib1) 2000; 127 Yum, Zhang, Scherer (bib32) 2010; 38 28705319 - J Am Coll Cardiol. 2017 Jul 18;70(3):371-372 Lev (10.1016/j.jacc.2017.05.039_bib4) 1964; 6 Piazza (10.1016/j.jacc.2017.05.039_bib16) 2005; 68 Ambrosi (10.1016/j.jacc.2017.05.039_bib2) 2014; 325 Sohal (10.1016/j.jacc.2017.05.039_bib19) 2001; 89 Ricketts (10.1016/j.jacc.2017.05.039_bib15) 1979 Abrams (10.1016/j.jacc.2017.05.039_bib34) 2013; 288 Yum (10.1016/j.jacc.2017.05.039_bib32) 2010; 38 Baruteau (10.1016/j.jacc.2017.05.039_bib13) 2012; 126 Park (10.1016/j.jacc.2017.05.039_bib5) 2011; 123 Laing (10.1016/j.jacc.2017.05.039_bib28) 2001; 276 Fernandez (10.1016/j.jacc.2017.05.039_bib24) 2005; 118 Burdon (10.1016/j.jacc.2017.05.039_bib33) 2004; 41 Makita (10.1016/j.jacc.2017.05.039_bib17) 2012; 5 Nishii (10.1016/j.jacc.2017.05.039_bib18) 2016; 140 Tristani-Firouzi (10.1016/j.jacc.2017.05.039_bib7) 2002; 110 Lecanda (10.1016/j.jacc.2017.05.039_bib27) 1998; 9 Olgin (10.1016/j.jacc.2017.05.039_bib14) 2001 Paznekas (10.1016/j.jacc.2017.05.039_bib25) 2003; 72 Kreuzberg (10.1016/j.jacc.2017.05.039_bib35) 2009; 46 Frank (10.1016/j.jacc.2017.05.039_bib36) 2012; 111 Bell (10.1016/j.jacc.2017.05.039_bib21) 1951 Kumai (10.1016/j.jacc.2017.05.039_bib1) 2000; 127 Bao (10.1016/j.jacc.2017.05.039_bib38) 2011; 5 Brink (10.1016/j.jacc.2017.05.039_bib23) 1977; 52 Chameides (10.1016/j.jacc.2017.05.039_bib12) 1977; 297 Hagendorff (10.1016/j.jacc.2017.05.039_bib20) 1999; 99 Yum (10.1016/j.jacc.2017.05.039_bib31) 2002; 11 Li (10.1016/j.jacc.2017.05.039_bib8) 1997; 15 Agullo-Pascual (10.1016/j.jacc.2017.05.039_bib29) 2014; 104 Nielsen (10.1016/j.jacc.2017.05.039_bib26) 2012; 2 Lenègre (10.1016/j.jacc.2017.05.039_bib3) 1964; 6 Nagano (10.1016/j.jacc.2017.05.039_bib10) 1996; 12 Maeda (10.1016/j.jacc.2017.05.039_bib22) 2009; 458 Yamamoto (10.1016/j.jacc.2017.05.039_bib37) 2006; 72 Baruteau (10.1016/j.jacc.2017.05.039_bib6) 2015; 30 Michaelsson (10.1016/j.jacc.2017.05.039_bib11) 1972; 4 Pizzuti (10.1016/j.jacc.2017.05.039_bib30) 2004; 23 Basson (10.1016/j.jacc.2017.05.039_bib9) 1997; 15 |
| References_xml | – volume: 38 start-page: 226 year: 2010 end-page: 236 ident: bib32 article-title: Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30 publication-title: Neurobiol Dis contributor: fullname: Scherer – volume: 6 start-page: 409 year: 1964 end-page: 444 ident: bib3 article-title: Etiology and pathology of bilateral bundle branch block in relation to complete heart block publication-title: Prog Cardiovasc Dis contributor: fullname: Lenègre – volume: 89 start-page: 20 year: 2001 end-page: 25 ident: bib19 article-title: Temporally regulated and tissue-specific gene manipulations in the adult and embryonic heart using a tamoxifen-inducible Cre protein publication-title: Circ Res contributor: fullname: Crackower – volume: 9 start-page: 2249 year: 1998 end-page: 2258 ident: bib27 article-title: Gap junctional communication modulates gene expression in osteoblastic cells publication-title: Mol Biol Cell contributor: fullname: Ziambaras – volume: 30 start-page: 33 year: 2015 end-page: 39 ident: bib6 article-title: Inherited progressive cardiac conduction disorders publication-title: Curr Opin Cardiol contributor: fullname: Abriel – volume: 72 start-page: 408 year: 2003 end-page: 418 ident: bib25 article-title: Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia publication-title: Am J Hum Genet contributor: fullname: Shapiro – volume: 12 start-page: 254 year: 1996 end-page: 259 ident: bib10 article-title: Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy publication-title: Nat Genet contributor: fullname: Ogawa – volume: 41 start-page: e106 year: 2004 ident: bib33 article-title: A novel mutation in the connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance publication-title: J Med Genet contributor: fullname: Mackey – volume: 6 start-page: 317 year: 1964 end-page: 326 ident: bib4 article-title: The pathology of complete atrioventricular block publication-title: Prog Cardiovasc Dis contributor: fullname: Lev – volume: 118 start-page: 133 year: 2005 end-page: 137 ident: bib24 article-title: A gene locus for progressive familial heart block type II (PFHBII) maps to chromosome 1q32.2-q32.3 publication-title: Hum Genet contributor: fullname: Corfield – volume: 325 start-page: 2 year: 2014 end-page: 9 ident: bib2 article-title: Molecular mechanisms of congenital heart block publication-title: Exp Cell Res contributor: fullname: Wahren-Herlenius – volume: 2 start-page: 1981 year: 2012 end-page: 2035 ident: bib26 article-title: Gap junctions publication-title: Compr Physiol contributor: fullname: Holstein-Rathlou – volume: 4 start-page: 85 year: 1972 end-page: 101 ident: bib11 article-title: Congenital complete heart block: an international study of the natural history publication-title: Cardiovasc Clin contributor: fullname: Engle – year: 1951 ident: bib21 article-title: Brachydactyly and Symphalangism contributor: fullname: Bell – volume: 297 start-page: 1204 year: 1977 end-page: 1207 ident: bib12 article-title: Association of maternal systemic lupus erythematosus with congenital complete heart block publication-title: N Engl J Med contributor: fullname: Noonan – volume: 276 start-page: 23051 year: 2001 end-page: 23055 ident: bib28 article-title: Connexin45 interacts with zonula occludens-1 and connexin43 in osteoblastic cells publication-title: J Biol Chem contributor: fullname: Steinberg – volume: 111 start-page: 1528 year: 2012 end-page: 1538 ident: bib36 article-title: Connexin45 provides optimal atrioventricular nodal conduction in the adult mouse heart publication-title: Circ Res contributor: fullname: Andrie – volume: 104 start-page: 371 year: 2014 end-page: 381 ident: bib29 article-title: Super-resolution imaging reveals that loss of the C-terminus of connexin43 limits microtubule plus-end capture and NaV1.5 localization at the intercalated disc publication-title: Cardiovasc Res contributor: fullname: Leo-Macias – volume: 126 start-page: 1469 year: 2012 end-page: 1477 ident: bib13 article-title: Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block publication-title: Circulation contributor: fullname: Fouchard – volume: 99 start-page: 1508 year: 1999 end-page: 1515 ident: bib20 article-title: Conduction disturbances and increased atrial vulnerability in Connexin40-deficient mice analyzed by transesophageal stimulation publication-title: Circulation contributor: fullname: Willecke – volume: 123 start-page: 904 year: 2011 end-page: 915 ident: bib5 article-title: The cardiac conduction system publication-title: Circulation contributor: fullname: Fishman – volume: 15 start-page: 30 year: 1997 end-page: 35 ident: bib9 article-title: Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome publication-title: Nat Genet contributor: fullname: Lin – volume: 127 start-page: 3501 year: 2000 end-page: 3512 ident: bib1 article-title: Loss of connexin45 causes a cushion defect in early cardiogenesis publication-title: Development contributor: fullname: Shibata – volume: 46 start-page: 553 year: 2009 end-page: 559 ident: bib35 article-title: Human connexin31.9, unlike its orthologous protein connexin30.2 in the mouse, is not detectable in the human cardiac conduction system publication-title: J Mol Cell Cardiol contributor: fullname: Segschneider – volume: 11 start-page: 43 year: 2002 end-page: 52 ident: bib31 article-title: Diverse trafficking abnormalities of connexin32 mutants causing CMTX publication-title: Neurobiol Dis contributor: fullname: Scherer – volume: 458 start-page: 597 year: 2009 end-page: 602 ident: bib22 article-title: Structure of the connexin 26 gap junction channel at 3.5 A resolution publication-title: Nature contributor: fullname: Suga – volume: 23 start-page: 286 year: 2004 ident: bib30 article-title: A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype publication-title: Hum Mutat contributor: fullname: Dallapiccola – volume: 52 start-page: 53 year: 1977 end-page: 59 ident: bib23 article-title: Progressive familial heart block–two types publication-title: S Afr Med J contributor: fullname: Torrington – volume: 68 start-page: 161 year: 2005 end-page: 166 ident: bib16 article-title: Functional analysis of R75Q mutation in the gene coding for connexin 26 identified in a family with nonsyndromic hearing loss publication-title: Clin Genet contributor: fullname: Menniti – volume: 15 start-page: 21 year: 1997 end-page: 29 ident: bib8 article-title: Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family publication-title: Nat Genet contributor: fullname: Terrett – volume: 140 start-page: 41 year: 2016 end-page: 52 ident: bib18 article-title: Connexin45 contributes to global cardiovascular development by establishing myocardial impulse propagation publication-title: Mech Dev contributor: fullname: Kumai – start-page: 59 year: 1979 ident: bib15 article-title: Bioprogressive therapy contributor: fullname: Schulhof – volume: 288 start-page: 3609 year: 2013 end-page: 3619 ident: bib34 article-title: Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32 publication-title: J Biol Chem contributor: fullname: Freidin – volume: 5 start-page: 489 year: 2011 end-page: 499 ident: bib38 article-title: Residual Cx45 and its relationship to Cx43 in murine ventricular myocardium publication-title: Channels (Austin) contributor: fullname: Huang – start-page: 815 year: 2001 end-page: 899 ident: bib14 article-title: Specific arrhythmias: diagnosis and treatment publication-title: Heart Disease: A Textbook of Cardiovascular Medicine contributor: fullname: Zipes – volume: 5 start-page: 163 year: 2012 end-page: 172 ident: bib17 article-title: A connexin40 mutation associated with a malignant variant of progressive familial heart block type I publication-title: Circ Arrhythm Electrophysiol contributor: fullname: Sumitomo – volume: 110 start-page: 381 year: 2002 end-page: 388 ident: bib7 article-title: Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome) publication-title: J Clin Invest contributor: fullname: Donaldson – volume: 72 start-page: 271 year: 2006 end-page: 281 ident: bib37 article-title: Extended atrial conduction system characterised by the expression of the HCN4 channel and connexin45 publication-title: Cardiovasc Res contributor: fullname: Tellez – volume: 140 start-page: 41 year: 2016 ident: 10.1016/j.jacc.2017.05.039_bib18 article-title: Connexin45 contributes to global cardiovascular development by establishing myocardial impulse propagation publication-title: Mech Dev doi: 10.1016/j.mod.2016.02.003 contributor: fullname: Nishii – volume: 99 start-page: 1508 year: 1999 ident: 10.1016/j.jacc.2017.05.039_bib20 article-title: Conduction disturbances and increased atrial vulnerability in Connexin40-deficient mice analyzed by transesophageal stimulation publication-title: Circulation doi: 10.1161/01.CIR.99.11.1508 contributor: fullname: Hagendorff – volume: 2 start-page: 1981 year: 2012 ident: 10.1016/j.jacc.2017.05.039_bib26 article-title: Gap junctions publication-title: Compr Physiol doi: 10.1002/cphy.c110051 contributor: fullname: Nielsen – volume: 110 start-page: 381 year: 2002 ident: 10.1016/j.jacc.2017.05.039_bib7 article-title: Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome) publication-title: J Clin Invest doi: 10.1172/JCI15183 contributor: fullname: Tristani-Firouzi – volume: 118 start-page: 133 year: 2005 ident: 10.1016/j.jacc.2017.05.039_bib24 article-title: A gene locus for progressive familial heart block type II (PFHBII) maps to chromosome 1q32.2-q32.3 publication-title: Hum Genet doi: 10.1007/s00439-005-0029-5 contributor: fullname: Fernandez – volume: 111 start-page: 1528 year: 2012 ident: 10.1016/j.jacc.2017.05.039_bib36 article-title: Connexin45 provides optimal atrioventricular nodal conduction in the adult mouse heart publication-title: Circ Res doi: 10.1161/CIRCRESAHA.112.270561 contributor: fullname: Frank – volume: 38 start-page: 226 year: 2010 ident: 10.1016/j.jacc.2017.05.039_bib32 article-title: Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30 publication-title: Neurobiol Dis doi: 10.1016/j.nbd.2010.01.010 contributor: fullname: Yum – volume: 11 start-page: 43 year: 2002 ident: 10.1016/j.jacc.2017.05.039_bib31 article-title: Diverse trafficking abnormalities of connexin32 mutants causing CMTX publication-title: Neurobiol Dis doi: 10.1006/nbdi.2002.0545 contributor: fullname: Yum – volume: 6 start-page: 409 year: 1964 ident: 10.1016/j.jacc.2017.05.039_bib3 article-title: Etiology and pathology of bilateral bundle branch block in relation to complete heart block publication-title: Prog Cardiovasc Dis doi: 10.1016/S0033-0620(64)80001-3 contributor: fullname: Lenègre – volume: 458 start-page: 597 year: 2009 ident: 10.1016/j.jacc.2017.05.039_bib22 article-title: Structure of the connexin 26 gap junction channel at 3.5 A resolution publication-title: Nature doi: 10.1038/nature07869 contributor: fullname: Maeda – volume: 30 start-page: 33 year: 2015 ident: 10.1016/j.jacc.2017.05.039_bib6 article-title: Inherited progressive cardiac conduction disorders publication-title: Curr Opin Cardiol doi: 10.1097/HCO.0000000000000134 contributor: fullname: Baruteau – volume: 41 start-page: e106 year: 2004 ident: 10.1016/j.jacc.2017.05.039_bib33 article-title: A novel mutation in the connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance publication-title: J Med Genet doi: 10.1136/jmg.2004.018333 contributor: fullname: Burdon – volume: 127 start-page: 3501 year: 2000 ident: 10.1016/j.jacc.2017.05.039_bib1 article-title: Loss of connexin45 causes a cushion defect in early cardiogenesis publication-title: Development doi: 10.1242/dev.127.16.3501 contributor: fullname: Kumai – volume: 23 start-page: 286 year: 2004 ident: 10.1016/j.jacc.2017.05.039_bib30 article-title: A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype publication-title: Hum Mutat doi: 10.1002/humu.9220 contributor: fullname: Pizzuti – volume: 288 start-page: 3609 year: 2013 ident: 10.1016/j.jacc.2017.05.039_bib34 article-title: Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32 publication-title: J Biol Chem doi: 10.1074/jbc.M112.392670 contributor: fullname: Abrams – volume: 5 start-page: 163 year: 2012 ident: 10.1016/j.jacc.2017.05.039_bib17 article-title: A connexin40 mutation associated with a malignant variant of progressive familial heart block type I publication-title: Circ Arrhythm Electrophysiol doi: 10.1161/CIRCEP.111.967604 contributor: fullname: Makita – year: 1951 ident: 10.1016/j.jacc.2017.05.039_bib21 contributor: fullname: Bell – volume: 6 start-page: 317 year: 1964 ident: 10.1016/j.jacc.2017.05.039_bib4 article-title: The pathology of complete atrioventricular block publication-title: Prog Cardiovasc Dis doi: 10.1016/S0033-0620(64)80005-0 contributor: fullname: Lev – volume: 104 start-page: 371 year: 2014 ident: 10.1016/j.jacc.2017.05.039_bib29 article-title: Super-resolution imaging reveals that loss of the C-terminus of connexin43 limits microtubule plus-end capture and NaV1.5 localization at the intercalated disc publication-title: Cardiovasc Res doi: 10.1093/cvr/cvu195 contributor: fullname: Agullo-Pascual – volume: 325 start-page: 2 year: 2014 ident: 10.1016/j.jacc.2017.05.039_bib2 article-title: Molecular mechanisms of congenital heart block publication-title: Exp Cell Res doi: 10.1016/j.yexcr.2014.01.003 contributor: fullname: Ambrosi – volume: 15 start-page: 21 year: 1997 ident: 10.1016/j.jacc.2017.05.039_bib8 article-title: Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family publication-title: Nat Genet doi: 10.1038/ng0197-21 contributor: fullname: Li – volume: 12 start-page: 254 year: 1996 ident: 10.1016/j.jacc.2017.05.039_bib10 article-title: Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy publication-title: Nat Genet doi: 10.1038/ng0396-254 contributor: fullname: Nagano – volume: 297 start-page: 1204 year: 1977 ident: 10.1016/j.jacc.2017.05.039_bib12 article-title: Association of maternal systemic lupus erythematosus with congenital complete heart block publication-title: N Engl J Med doi: 10.1056/NEJM197712012972203 contributor: fullname: Chameides – volume: 89 start-page: 20 year: 2001 ident: 10.1016/j.jacc.2017.05.039_bib19 article-title: Temporally regulated and tissue-specific gene manipulations in the adult and embryonic heart using a tamoxifen-inducible Cre protein publication-title: Circ Res doi: 10.1161/hh1301.092687 contributor: fullname: Sohal – volume: 126 start-page: 1469 year: 2012 ident: 10.1016/j.jacc.2017.05.039_bib13 article-title: Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block publication-title: Circulation doi: 10.1161/CIRCULATIONAHA.111.069161 contributor: fullname: Baruteau – volume: 276 start-page: 23051 year: 2001 ident: 10.1016/j.jacc.2017.05.039_bib28 article-title: Connexin45 interacts with zonula occludens-1 and connexin43 in osteoblastic cells publication-title: J Biol Chem doi: 10.1074/jbc.M100303200 contributor: fullname: Laing – start-page: 815 year: 2001 ident: 10.1016/j.jacc.2017.05.039_bib14 article-title: Specific arrhythmias: diagnosis and treatment contributor: fullname: Olgin – volume: 72 start-page: 271 year: 2006 ident: 10.1016/j.jacc.2017.05.039_bib37 article-title: Extended atrial conduction system characterised by the expression of the HCN4 channel and connexin45 publication-title: Cardiovasc Res doi: 10.1016/j.cardiores.2006.07.026 contributor: fullname: Yamamoto – volume: 72 start-page: 408 year: 2003 ident: 10.1016/j.jacc.2017.05.039_bib25 article-title: Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia publication-title: Am J Hum Genet doi: 10.1086/346090 contributor: fullname: Paznekas – volume: 9 start-page: 2249 year: 1998 ident: 10.1016/j.jacc.2017.05.039_bib27 article-title: Gap junctional communication modulates gene expression in osteoblastic cells publication-title: Mol Biol Cell doi: 10.1091/mbc.9.8.2249 contributor: fullname: Lecanda – volume: 4 start-page: 85 year: 1972 ident: 10.1016/j.jacc.2017.05.039_bib11 article-title: Congenital complete heart block: an international study of the natural history publication-title: Cardiovasc Clin contributor: fullname: Michaelsson – volume: 52 start-page: 53 year: 1977 ident: 10.1016/j.jacc.2017.05.039_bib23 article-title: Progressive familial heart block–two types publication-title: S Afr Med J contributor: fullname: Brink – volume: 68 start-page: 161 year: 2005 ident: 10.1016/j.jacc.2017.05.039_bib16 article-title: Functional analysis of R75Q mutation in the gene coding for connexin 26 identified in a family with nonsyndromic hearing loss publication-title: Clin Genet doi: 10.1111/j.1399-0004.2005.00468.x contributor: fullname: Piazza – start-page: 59 year: 1979 ident: 10.1016/j.jacc.2017.05.039_bib15 contributor: fullname: Ricketts – volume: 15 start-page: 30 year: 1997 ident: 10.1016/j.jacc.2017.05.039_bib9 article-title: Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome publication-title: Nat Genet doi: 10.1038/ng0197-30 contributor: fullname: Basson – volume: 5 start-page: 489 year: 2011 ident: 10.1016/j.jacc.2017.05.039_bib38 article-title: Residual Cx45 and its relationship to Cx43 in murine ventricular myocardium publication-title: Channels (Austin) doi: 10.4161/chan.5.6.18523 contributor: fullname: Bao – volume: 46 start-page: 553 year: 2009 ident: 10.1016/j.jacc.2017.05.039_bib35 article-title: Human connexin31.9, unlike its orthologous protein connexin30.2 in the mouse, is not detectable in the human cardiac conduction system publication-title: J Mol Cell Cardiol doi: 10.1016/j.yjmcc.2008.12.007 contributor: fullname: Kreuzberg – volume: 123 start-page: 904 year: 2011 ident: 10.1016/j.jacc.2017.05.039_bib5 article-title: The cardiac conduction system publication-title: Circulation doi: 10.1161/CIRCULATIONAHA.110.942284 contributor: fullname: Park |
| SSID | ssj0006819 |
| Score | 2.4088688 |
| Snippet | Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation. It is often... Background Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation.... BACKGROUNDInherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation.... BACKGROUND: Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation.... |
| SourceID | hal proquest crossref pubmed elsevier |
| SourceType | Open Access Repository Aggregation Database Index Database Publisher |
| StartPage | 358 |
| SubjectTerms | Abnormalities Action potential Adolescent Adult Animals Arrhythmia Atrioventricular Block - etiology Atrioventricular Block - genetics Atrioventricular Block - physiopathology brachyfacial pattern Cardiac arrhythmia Cardiology Cardiovascular disease Child Child, Preschool Conductance congenital atrioventricular block Congenital diseases Connexin 45 Connexins - genetics Connexins - metabolism Coronary artery disease dentodigital dysplasia Dentofacial Deformities - complications Dentofacial Deformities - genetics Dentofacial Deformities - metabolism Disease Models, Animal Disease Progression DNA - genetics DNA Mutational Analysis Dysplasia Electrocardiography Female Gene expression Gene sequencing Genes Heart Heart diseases Humans In vitro methods and tests knockout mice Life Sciences Male Mice Mice, Transgenic Middle Aged Mutation Parents Pedigree Phenotype Proteins Tamoxifen Ventricle whole-exome sequencing Young Adult |
| Title | Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation |
| URI | https://dx.doi.org/10.1016/j.jacc.2017.05.039 https://www.ncbi.nlm.nih.gov/pubmed/28705318 https://www.proquest.com/docview/1919448585 https://search.proquest.com/docview/1920194671 https://hal.science/hal-01832148 |
| Volume | 70 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LbxMxEB61RUJcEO-GlsggbmjJumvv2sckpYqgQUhQyM3y2l4lFdpUNKnKpb-9M96HhFQ4cIzXjq2Z9Tx2vpkBeIsqwnGPlpvMUocOitOJFblMZOlsqh0vywgen3_OZ2fi40IudmDa5cIQrLKV_Y1Mj9K6HRm11BxdrFajr_hySoqf8iIrhI555DgQk_gWk14a5yo296DJCc1uE2cajNe5dVTGkDfVO6lh-N3KaXdJKMm_maBRFZ08goetDcnGzTEfw06on8D9eRslfwrLLwS6InzrVWDj2JeDTde1bwrFsuMQIRys40zw7Mdqs2STdR3Y3P7s8xnZ1G4v8Wn5m1kWETHXqzoRks23TQD_GZydfPg2nSVtR4XEifxokzjS6DoUNvdIMOdl6a32RaVFlYtQVeg7We1s0JnXNnNVkAFvtCqlEKVWIc2ew16Nh9kHluEKroLzSnuBa61Fw0AeKV9Ip30uB_CuI6W5aApnmA5Rdm6I8IYIb1JpkPADkB21zR_sNyjZ_7nuDbKm34BqZc_Gp4bGUh6bMKkrPoDDjnOmvaGXBv1Uja4peksDeN0_xrtFARNbh_WW5uBWGlUJ_sWLhuP9VhQgRvmlXv7nyQ_gAf2iz8RcHcLe5tc2vEL7ZlMOYff9DR_CvfHk-6fTYXydbwEf-fjL |
| link.rule.ids | 230,315,783,787,888,3513,4509,27581,27936,27937,45597,45675,45886 |
| linkProvider | Elsevier |
| linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LbxMxEB6VVgIuqC2v0JeLuKFVdrv2rn1M01YpZCskWpGb5bW9Siq0qWhSwb9nxvuQkIBDr2s7tmbseWS-mQH4gCrCJg4tN5HGFh0UqyLDMxGJ0ppY2aQsA3i8uMomN_zTTMw2YNzlwhCsspX9jUwP0rr9MmypObxbLIZf8XIKip8meZpzRXnkW5R2Sdf8cnbai-NMhu4eNDui6W3mTAPyujWW6hgmTflO6hj-d-30ZE4wyX_ZoEEXXWzDi9aIZKPmnDuw4etdeFq0YfKXMP9CqCsCuD54NgqNOdh4WbumUiw78wHDwTrWeMe-LVZzdrqsPSvM9z6hkY3N-h5Hy1_MsACJ-bmoIy5YsW4i-K_g5uL8ejyJ2pYKkeXZySqypNKVz03mkGLWidIZ5fJK8SrjvqrQeTLKGq9Sp0xqKy88PmlZCs5LJX2cvobNGg_zFliKKxLprZPKcVxrDFoG4kS6XFjlMjGAjx0p9V1TOUN3kLJbTYTXRHgdC42EH4DoqK3_4L9G0f7fde-RNf0GVCx7Mppq-hYnoQuTfEgGsN9xTrdP9F6jo6rQN0V3aQDH_TA-LoqYmNov1zQHt1KoS_An3jQc77eiCDEKMPnukSc_gmeT62Kqp5dXn_fgOY3Qf8aJ3IfN1Y-1P0BjZ1Uehsv8GybM-Wg |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Progressive+Atrial+Conduction+Defects+Associated+With+Bone+Malformation+Caused+by+a+Connexin-45+Mutation&rft.jtitle=Journal+of+the+American+College+of+Cardiology&rft.au=Seki%2C+Akiko&rft.au=Ishikawa%2C+Taisuke&rft.au=Daumy%2C+Xavier&rft.au=Mishima%2C+Hiroyuki&rft.date=2017-07-18&rft.issn=0735-1097&rft.volume=70&rft.issue=3&rft.spage=358&rft.epage=370&rft_id=info:doi/10.1016%2Fj.jacc.2017.05.039&rft.externalDBID=n%2Fa&rft.externalDocID=10_1016_j_jacc_2017_05_039 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0735-1097&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0735-1097&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0735-1097&client=summon |