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Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome.
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Altered CO2 sensitivity of connexin26 mutant hemichannels in vitro.
Physiol Rep. 2016 Nov;4(22). doi: 10.14814/phy2.13038.
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Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness.
Am J Physiol Cell Physiol. 2007 Jul;293(1):C337-45. doi: 10.1152/ajpcell.00626.2006. Epub 2007 Apr 11.
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The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity.
Am J Physiol Cell Physiol. 2013 Jun 15;304(12):C1150-8. doi: 10.1152/ajpcell.00374.2012. Epub 2013 Feb 27.
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The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome.
Hum Mol Genet. 2011 Jan 1;20(1):28-39. doi: 10.1093/hmg/ddq429. Epub 2010 Oct 6.

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Sensing molecular carbon dioxide: a translational focus for respiratory disease.
Physiol Rev. 2025 Oct 1;105(4):2657-2691. doi: 10.1152/physrev.00022.2024. Epub 2025 Jul 16.
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Molecular Mechanisms and Clinical Phenotypes of Missense Variants.
Biology (Basel). 2023 Mar 27;12(4):505. doi: 10.3390/biology12040505.
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Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes.
J Invest Dermatol. 2020 May;140(5):1035-1044.e7. doi: 10.1016/j.jid.2019.09.022. Epub 2019 Nov 6.
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The syndromic deafness mutation G12R impairs fast and slow gating in Cx26 hemichannels.
J Gen Physiol. 2018 May 7;150(5):697-711. doi: 10.1085/jgp.201711782. Epub 2018 Apr 11.
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Evolutionary adaptation of the sensitivity of connexin26 hemichannels to CO2.
Proc Biol Sci. 2017 Feb 8;284(1848). doi: 10.1098/rspb.2016.2723.
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Altered CO2 sensitivity of connexin26 mutant hemichannels in vitro.
Physiol Rep. 2016 Nov;4(22). doi: 10.14814/phy2.13038.
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Connexinopathies: a structural and functional glimpse.
BMC Cell Biol. 2016 May 24;17 Suppl 1(Suppl 1):17. doi: 10.1186/s12860-016-0092-x.

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A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation.
J Invest Dermatol. 2004 Aug;123(2):291-3. doi: 10.1111/j.0022-202X.2004.23204.x.
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A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness.
J Invest Dermatol. 2003 Nov;121(5):1221-3. doi: 10.1046/j.1523-1747.2003.12550_4.x.
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Effect of donor age on cultivation of human oral mucosal keratinocytes.
Arch Gerontol Geriatr. 2004 Mar-Apr;38(2):114-22. doi: 10.1016/j.archger.2003.08.006.
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Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.
Br J Dermatol. 2003 Apr;148(4):649-53. doi: 10.1046/j.1365-2133.2003.05245.x.
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Connexin mutations in hearing loss, dermatological and neurological disorders.
Trends Mol Med. 2002 May;8(5):205-12. doi: 10.1016/s1471-4914(02)02327-4.
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