المؤلفون: Dobrić Bojana, Radivojević Danijela, Ječmenica Jovana, Fanis Pavlos, Neocleous Vassos, Phylactou Leonidas A., Đurišić Marina

المصدر: Genetika, Vol 54, Iss 1, Pp 447-456 (2022)

مصطلحات موضوعية: autosomal recessive non-syndromic hearing loss, gjb2 gene, gjb6 gene, variants, Genetics, QH426-470

العلاقة: https://doaj.org/toc/0534-0012Test; https://doaj.org/toc/1820-6069Test; https://doaj.org/article/bab5d6430d0b47dba60278ef33def58dTest

الإتاحة: https://doi.org/10.2298/GENSR2201447DTest
https://doaj.org/article/bab5d6430d0b47dba60278ef33def58dTest

المؤلفون: Lu, Yuting, Zhang, Ruili, Wang, Zhenying, Zhou, Shuhua, Song, Yali, Chen, Lamei, Chen, Nan, Liu, Wenmin, Ji, Canan, Wu, Wangli, Zhang, Li

المصدر: Brazilian Journal of Medical and Biological Research. January 2018 51(9)

مصطلحات موضوعية: Clouston syndrome, GJB6 gene, Connexin 30, Caspase, Apoptosis

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000900611Test

المؤلفون: Yuting Lu, Ruili Zhang, Zhenying Wang, Shuhua Zhou, Yali Song, Lamei Chen, Nan Chen, Wenmin Liu, Canan Ji, Wangli Wu, Li Zhang

المصدر: Brazilian Journal of Medical and Biological Research, Vol 51, Iss 9 (2018)

مصطلحات موضوعية: Clouston syndrome, GJB6 gene, Connexin 30, Caspase, Apoptosis, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000900611&lng=en&tlng=enTest; https://doaj.org/toc/1414-431XTest

الوصول الحر: https://doaj.org/article/2bf0997ff3604ee6a31f0f5f4d1e8f39Test

المؤلفون: Li Zhang, Wenmin Liu, Yali Song, Wangli Wu, Rui-Li Zhang, Shuhua Zhou, Zhenying Wang, Lamei Chen, Nan Chen, Canan Ji, Yuting Lu

المصدر: Brazilian Journal of Medical and Biological Research v.51 n.9 2018
Brazilian Journal of Medical and Biological Research
Associação Brasileira de Divulgação Científica (ABDC)
instacron:ABDC
Brazilian Journal of Medical and Biological Research, Vol 51, Iss 9 (2018)
Brazilian Journal of Medical and Biological Research, Volume: 51, Issue: 9, Article number: e7560, Published: 23 JUL 2018

مصطلحات موضوعية: 0301 basic medicine, Physiology, Immunology, Mutant, Biophysics, Ocean Engineering, Apoptosis, Biochemistry, Cell Line, Flow cytometry, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Western blot, Ectodermal Dysplasia, medicine, Connexin 30, Humans, General Pharmacology, Toxicology and Pharmaceutics, lcsh:QH301-705.5, Research Articles, Cells, Cultured, Cell Proliferation, lcsh:R5-920, medicine.diagnostic_test, integumentary system, Chemistry, Cell growth, General Neuroscience, Cell Biology, General Medicine, Transfection, Flow Cytometry, GJB6 gene, Molecular biology, Clouston syndrome, Caspase, HaCaT, 030104 developmental biology, lcsh:Biology (General), Cell culture, Caspases, Doxycycline, Mutation, lcsh:Medicine (General)

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5988dfe7aba3102f8b06b65dcd982faTest
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000900611Test

المؤلفون: Manzoli, Gabrielle N., Abe-Sandes, Kiyoko, Bittles, Alan H, da Silva, Danniel, Fernandes, Luciene, Paulon, Roberta, de Castro, Iza Cristina, Padovani, Carla, Acosta, Angelina

المصدر: Research outputs 2013

مصطلحات موضوعية: C.35delG, Connexin, Consanguinity, GJB2, Nonsyndromic hearing impairment, P.Arg75 Gln connexin 26, connexin 30, adolescent, adult, article, Brazil, child, ethnicity, familial disease, female, gene, gene mutation, genetic heterogeneity, GJB2 gene, GJB6 gene, hearing impairment, heterozygote, homozygote, human, major clinical study, male, MTRNR1 gene, preschool child, priority journal, school child

العلاقة: https://ro.ecu.edu.au/ecuworks2013/73Test

الإتاحة: https://ro.ecu.edu.au/ecuworks2013/73Test

المؤلفون: Gros, Daniel, Theveniau-Ruissy, Magali, Bernard, Monique, Calmels, Thierry, Kober, Frank, Soehl, Goran, Willecke, Klaus, Nargeot, Joel, Jongsma, Habo J., Mangoni, Matteo E.

المصدر: Gros , D , Theveniau-Ruissy , M , Bernard , M , Calmels , T , Kober , F , Soehl , G , Willecke , K , Nargeot , J , Jongsma , H J & Mangoni , M E 2010 , ' Connexin 30 is expressed in the mouse sino-atrial node and modulates heart rate ' , Cardiovascular Research , vol. 85 , no. 1 , pp. 45-55 . https://doi.org/10.1093/cvr/cvp280Test ; ISSN:0008-6363

مصطلحات موضوعية: Gjb6 gene, Connexin 30, Gap junction, Intercellular coupling, Sinoatrial node, Pacemaker, Mouse heart, Heart rate, GAP JUNCTION PROTEIN, IMPULSE PROPAGATION, MOLECULAR-CLONING, CONDUCTION SYSTEM, MICE, CHANNELS, DELETION, FAILURE, MODELS, FAMILY

الإتاحة: https://doi.org/10.1093/cvr/cvp280Test
http://hdl.handle.net/11370/b72efb7b-fa1c-4cb3-8d42-d71b064d9b43Test
https://research.rug.nl/en/publications/connexin-30-is-expressed-in-the-mouse-sinoatrial-node-and-modulates-heart-rateTest(b72efb7b-fa1c-4cb3-8d42-d71b064d9b43).html

المؤلفون: Manzoli, Gabrielle Novais

مرشدي الرسالة: Abe-Sandes, Kiyoko, Silva, Luciano Kalabric, Mingroni Netto, Regina Célia, Acosta, Angelina Xavier

المصدر: Repositório Institucional da FIOCRUZFundação Oswaldo CruzFIOCRUZ.

مصطلحات موضوعية: Surdez, Conexinas, Gene GJB2, c35delG, p.R75Q, Gene GJB6, Deafness, Connexins, GJB2 gene, c.35delG, GJB6 gene

الإتاحة: https://www.arca.fiocruz.br/handle/icict/4207Test

المؤلفون: Daniel Gros, Joël Nargeot, Goran Söhl, Thierry Calmels, Habo J. Jongsma, Matteo E. Mangoni, Magali Théveniau-Ruissy, Klaus Willecke, Frank Kober, Monique Bernard

المساهمون: Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie du Développement de Marseille (IBDM), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Institut de Génomique Fonctionnelle (IGF), Université de Montpellier (UM)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS), University of Groningen, Université Montpellier 1 (UM1)-Université Montpellier 2 - Sciences et Techniques (UM2)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Cardiovascular Research
Cardiovascular Research, 2010, 85 (1), pp.45-55. ⟨10.1093/cvr/cvp280⟩
Cardiovascular Research, Oxford University Press (OUP), 2010, 85 (1), pp.45-55
Cardiovascular Research, Oxford University Press (OUP), 2010, 85 (1), pp.45-55. ⟨10.1093/cvr/cvp280⟩
Cardiovascular Research, 85(1), 45-55. Oxford University Press

مصطلحات موضوعية: Male, Physiology, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, Gap junction, IMPULSE PROPAGATION, 030204 cardiovascular system & hematology, Connexins, Electrocardiography, 0302 clinical medicine, FAILURE, ComputingMilieux_MISCELLANEOUS, 0303 health sciences, Ejection fraction, Ventricular Remodeling, Stroke volume, FAMILY, Pacemaker, medicine.anatomical_structure, Gjb6 gene, CONDUCTION SYSTEM, Female, Electrical conduction system of the heart, Cardiology and Cardiovascular Medicine, Interbeat interval, Genetically modified mouse, medicine.medical_specialty, Heart rate, MODELS, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, GAP JUNCTION PROTEIN, Sinoatrial node, 03 medical and health sciences, Physiology (medical), Internal medicine, medicine, Connexin 30, Animals, Rats, Wistar, Ventricular remodeling, Mouse heart, 030304 developmental biology, MOLECULAR-CLONING, CHANNELS, Myocardium, DELETION, medicine.disease, Rats, Mice, Inbred C57BL, MICE, [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, Endocrinology, Intercellular coupling

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef8c8cc550cc79e97e9d81d8ef2774d1Test
https://hal.science/hal-00617759Test

المؤلفون: Buonfiglio, Paula Inés, Bruque, Carlos David, Menazzi, Sebastian, Francipane, Liliana, Lotersztein, Vanesa, Elgoyhen, Ana Belen, Dalamon, Viviana Karina

مصطلحات موضوعية: GJB2 Gene, GJB6 Gene, HEARING LOSS, https://purl.org/becyt/ford/3.1Test, https://purl.org/becyt/ford/3Test

جغرافية الموضوع: Internacional

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/reference/url/https://ri.conicet.gov.ar/handle/11336/128457Test; info:eu-repo/semantics/altIdentifier/url/https://www.nature.com/articles/s41431-021-01026-1Test; http://hdl.handle.net/11336/202704Test; Genetic Variant Curation in GJB2 and GJB6 genes from an Argentinean cohort of hearing loss patients; 54th European Society of Human Genetics (ESHG) Conference; Viena; Austria; 2021; 125-125; CONICET Digital; CONICET

الإتاحة: https://doi.org/10.1038/s41431-021-01026-1Test
http://hdl.handle.net/11336/202704Test

المصدر: Research outputs 2013

مصطلحات الفهرس: C.35delG, Connexin, Consanguinity, GJB2, Nonsyndromic hearing impairment, P.Arg75 Gln connexin 26, connexin 30, adolescent, adult, article, Brazil, child, ethnicity, familial disease, female, gene, gene mutation, genetic heterogeneity, GJB2 gene, GJB6 gene, hearing impairment, heterozygote, homozygote, human, major clinical study, male, MTRNR1 gene, nonsyndromic hearing impairment, preschool child, priority journal, school child, Adolescent, Adult, Aged, Child, Preschool, Connexins, Ethnic Groups, Female, Hearing Loss, Humans, Male, Middle Aged, Mutation, Orphan Nuclear Receptors, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Rural Population, Young Adult, Medical Genetics, Speech and Hearing Science, text

URL: https://ro.ecu.edu.au/ecuworks2013/73Test