Zobrazeno 1 - 10
of 23
pro vyhledávání: '"MESH: Connexins"'
Autor:
Imane AitRaise, Ghita Amalou, Amale Bousfiha, Hicham Charoute, Hassan Rouba, Houria Abdelghaffar, Crystel Bonnet, Christine Petit, Adbelhamid Barakat
Publikováno v:
Molecular Biology Reports
Molecular Biology Reports, 2022, 49 (5), pp.3949-3954. ⟨10.1007/s11033-022-07245-z⟩
Molecular Biology Reports, 2022, 49 (5), pp.3949-3954. ⟨10.1007/s11033-022-07245-z⟩
International audience; Background: Deafness is the most prevalent human sensorineural defect. It may occur as a result of an external auditory canal involvement, or a deficiency in the sound conduction mechanism, or an impairment of the cochlea, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a7013bd19b08c22094a168078bf3c5
https://doi.org/10.1007/s11033-022-07245-z
https://doi.org/10.1007/s11033-022-07245-z
Autor:
Crystel Bonnet, Sonia Talbi, Christine Petit, Mohammed Tahar Mansouri, Farid Boudjenah, Fatima Ammar Khodja
Publikováno v:
International Journal of Pediatric Otorhinolaryngology
International Journal of Pediatric Otorhinolaryngology, 2019, 124, pp.157-160. ⟨10.1016/j.ijporl.2019.05.036⟩
International Journal of Pediatric Otorhinolaryngology, Elsevier, 2019, 124, pp.157-160. ⟨10.1016/j.ijporl.2019.05.036⟩
International Journal of Pediatric Otorhinolaryngology, 2019, 124, pp.157-160. ⟨10.1016/j.ijporl.2019.05.036⟩
International Journal of Pediatric Otorhinolaryngology, Elsevier, 2019, 124, pp.157-160. ⟨10.1016/j.ijporl.2019.05.036⟩
International audience; Introduction: DFNB1, caused by mutations of GJB2 or GJB6, is the most prevalent genetic form of nonsyndromic (i.e., isolated) congenital deafness in countries located around the Mediterranean Sea. Because some mutations are re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b30a753cbbc743fc44529d1c3e27103
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219629
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219629
Autor:
Patricia Ramos, María José Sánchez-Soler, Alison Stewart, Nicolas Chassaing, Jonathan Bruty, Patrick Calvas, Domingo Aguilera-Garcia, Helen Stewart, Dominic J. McMullan, Dorine Bax, Yvonne Wallis, Alan Fryer, Anand Saggar, Carmen Ayuso, Cristina Villaverde, Fabiola Ceroni, Marta Corton, Luciana Rodrigues Jacy da Silva, Lisa Cooper-Charles, Michael J. Griffiths, Victoria McKay, Jonathan Hoffman, Maria Tarilonte, David J. Bunyan, María Juliana Ballesta-Martínez, Nicola K. Ragge, Richard J. Holt, Katherine Lachlan, Fiona Blanco-Kelly, Joelle Roume, Pascal Dureau
Publikováno v:
Human Genetics
Human Genetics, 2019, 138 (8-9), pp.1027-1042. ⟨10.1007/s00439-018-1875-2⟩
Human Genetics, 2019, 138 (8-9), pp.1027-1042. ⟨10.1007/s00439-018-1875-2⟩
International audience; GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mutations and ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::122f27747b3dc12ebac73973e54e0086
https://ut3-toulouseinp.hal.science/hal-03542896
https://ut3-toulouseinp.hal.science/hal-03542896
Autor:
Fatima Ammar-Khodja, Christine Petit, Malika Dahmani, Fabienne Wong Jun Tai, Malek Louha, Jean-Pierre Hardelin, Farid Boudjenah, Zied Riahi, Crystel Bonnet, Sonia Talbi
Publikováno v:
International Journal of Pediatric Otorhinolaryngology
International Journal of Pediatric Otorhinolaryngology, Elsevier, 2018, 112, pp.1-5. ⟨10.1016/j.ijporl.2018.06.012⟩
International Journal of Pediatric Otorhinolaryngology, 2018, 112, pp.1-5. ⟨10.1016/j.ijporl.2018.06.012⟩
International Journal of Pediatric Otorhinolaryngology, Elsevier, 2018, 112, pp.1-5. ⟨10.1016/j.ijporl.2018.06.012⟩
International Journal of Pediatric Otorhinolaryngology, 2018, 112, pp.1-5. ⟨10.1016/j.ijporl.2018.06.012⟩
International audience; Background: Consanguinity rate is high in Algeria, and the population is thus at high risk for genetic diseases transmitted on an autosomal recessive mode. Inherited congenital hearing impairment (HI) is a highly heterogeneous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15100fce6bc1958062d23c995bb02a78
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219637
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219637
Autor:
C Le Marechal, R Birkenhäger, Jill L. Elfenbein, Rachel Fisher, S M Da Silva-Costa, Arti Pandya, Edi Lúcia Sartorato, Karen H. Friderici, H Bolz, Eberhard Schneider, G. Van Camp, Richard J.H. Smith, Christian Kubisch, Hela Azaiez, Ellen Wilch, Hannie Kremer, Alessandra Murgia, Thomas Haaf, L. H. Hoefsloot, I del Castillo, Wim Wuyts
Publikováno v:
Clinical Genetics, 78, 267-74
Clinical Genetics, 78, 3, pp. 267-74
Clinical genetics
Clinical Genetics
Clinical Genetics, Wiley, 2010, 78 (3), pp.267-274. ⟨10.1111/j.1399-0004.2010.01387.x⟩
Clinical Genetics, 78, 3, pp. 267-74
Clinical genetics
Clinical Genetics
Clinical Genetics, Wiley, 2010, 78 (3), pp.267-274. ⟨10.1111/j.1399-0004.2010.01387.x⟩
Contains fulltext : 87760_1.pdf (author's version ) (Open Access) Contains fulltext : 87760_2.pdf (Publisher’s version ) (Closed access) Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d81a22f13f414b1582a35773d0e8a9c0
https://doi.org/10.1111/j.1399-0004.2010.01387.x
https://doi.org/10.1111/j.1399-0004.2010.01387.x
Autor:
Xavier Estivill, Frédéric Venail, Maria L. Arbonés, Ester Ballana, Jing Wang, Assumpció Bosch, Jean-Luc Puel
Publikováno v:
Neuroscience Letters
Neuroscience Letters, Elsevier, 2008, 442 (2), pp.134-9. ⟨10.1016/j.neulet.2008.06.060⟩
Neuroscience Letters, Elsevier, 2008, 442 (2), pp.134-9. ⟨10.1016/j.neulet.2008.06.060⟩
International audience; Congenital deafness, affecting 1 in 1000 neonates, can lead to major problems in speech, cognitive and psychosocial development. Congenital deafness is mainly caused by mutations in connexins, hemi-channel proteins forming gap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::199d21659ba073866e5e373bb4f03489
https://doi.org/10.1016/j.neulet.2008.06.060
https://doi.org/10.1016/j.neulet.2008.06.060
Autor:
Barbara E. Nickel, Wattamon Srisakuldee, Stéphane Tanguy, Janna Makazan, David C. Spray, Xitong Dang, Madhumathy Jeyaraman, Dumitru A. Iacobas, Elissavet Kardami
Publikováno v:
Progress in Biophysics and Molecular Biology
Progress in Biophysics and Molecular Biology, Elsevier, 2007, 94 (1-2), pp.245-64. ⟨10.1016/j.pbiomolbio.2007.03.009⟩
Progress in Biophysics and Molecular Biology, Elsevier, 2007, 94 (1-2), pp.245-64. ⟨10.1016/j.pbiomolbio.2007.03.009⟩
International audience; The purpose of this paper is to provide a brief overview of current thinking on the role of connexins, in particular Cx43, in growth regulation, and a more detailed discussion as to potential mechanisms involved with an emphas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cdf80dee50764904b1f384c529e2494
https://doi.org/10.1016/j.pbiomolbio.2007.03.009
https://doi.org/10.1016/j.pbiomolbio.2007.03.009
Autor:
Syed Qasim Raza, Héla Saïdi, Jean Kanellopoulos, Claire Séror, Marie Thérèse Melki, David M. Ojcius, Gian Maria Fimia, Christophe Lamaze, Jean-François Mouscadet, Audrey Paoletti, Isabelle Martins, Rita Casetti, Laurent Voisin, Marlène Bras, Mauro Piacentini, Alessandra Amendola, Guido Kroemer, Frédéric Law, Frédéric Subra, Fabiola Ciccosanti, Florence Niedergang, Marie-Lise Gougeon, Didier Métivier, Olivier Delelis, Najwane Said-Sadier, Ali A. Abdul-Sater, Laura Falasca, Nazanine Modjtahedi, Jérôme Estaquier, Jean-Luc Perfettini, Sylvain Thierry, Roberta Nardacci
Publikováno v:
Journal of Experimental Medicine; Vol 208
Journal of Experimental Medicine
Journal of Experimental Medicine, Rockefeller University Press, 2011, 208 (9), pp.1823-1834. ⟨10.1084/jem.20101805⟩
The Journal of Experimental Medicine
Journal of Experimental Medicine, 2011, 208 (9), pp.1823-1834. ⟨10.1084/jem.20101805⟩
Journal of Experimental Medicine
Journal of Experimental Medicine, Rockefeller University Press, 2011, 208 (9), pp.1823-1834. ⟨10.1084/jem.20101805⟩
The Journal of Experimental Medicine
Journal of Experimental Medicine, 2011, 208 (9), pp.1823-1834. ⟨10.1084/jem.20101805⟩
Contact with HIV-1 envelope protein elicits release of ATP through pannexin-1 channels on target cells; by activating purinergic receptors and Pyk2 kinase in target cells, this extracellular ATP boosts HIV-1 infectivity.
Extracellular adenosine
Extracellular adenosine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de8255f06ecca1664b78c8748ed44621
http://hdl.handle.net/2108/19411
http://hdl.handle.net/2108/19411
Autor:
Isabelle Dreyfus, Christine Chiaverini, Jean-Philippe Lacour, Juliette Mazereeuw-Hautier, Aude Maza, Nathalie Jonca, Christophe Perrin, Nathalie Cardot-Leccia, Eric Bieth
Publikováno v:
Acta Dermato-Venereologica
Acta Dermato-Venereologica, 2014, 94 (5), pp.591-592. ⟨10.2340/00015555-1818⟩
Acta Dermato-Venereologica, 2014, 94 (5), pp.591-592. ⟨10.2340/00015555-1818⟩
International audience; Keratosis–Ichthyosis–Deafness (KID) syndrome is a rare form of ichthyosis caused by mutations in the gene GJB2 encoding the gap junction protein connexin 26 (Cx26). Connexins are a family of integral membrane proteins form
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eb91117b6fb3abe9fdd62236951c06a
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03474031
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03474031
Autor:
Harinath Kasiganesan, Brett S. Harris, Lucile Miquerol, Daniel Gros, Mary S. Rackley, Terrence X. O'Brien, Dimitri Scholz, Rupak Mukherjee, Nicole Haghshenas, Catalin F. Baicu
Publikováno v:
AJP-Heart and Circulatory Physiology
AJP-Heart and Circulatory Physiology, American Physiological Society, 2012, 302 (8), pp.H1712-25. ⟨10.1152/ajpheart.00621.2011⟩
AJP-Heart and Circulatory Physiology, 2012, 302 (8), pp.H1712-25. ⟨10.1152/ajpheart.00621.2011⟩
AJP-Heart and Circulatory Physiology, American Physiological Society, 2012, 302 (8), pp.H1712-25. ⟨10.1152/ajpheart.00621.2011⟩
AJP-Heart and Circulatory Physiology, 2012, 302 (8), pp.H1712-25. ⟨10.1152/ajpheart.00621.2011⟩
How chronic pressure overload affects the Purkinje fibers of the ventricular peripheral conduction system (PCS) is not known. Here, we used a connexin (Cx)40 knockout/enhanced green fluorescent protein knockin transgenic mouse model to specifically l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::512e6c9e7077ea2ed3eef18c65ec2c01
https://hal.archives-ouvertes.fr/hal-00839105
https://hal.archives-ouvertes.fr/hal-00839105