Results 311 to 320 of about 75,295 (332)
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Connexin-30 Deletion Analysis in Connexin-26 Heterozygotes
Genetic Testing, 2003Mutations in the Connexin-26 gene (Cx 26, GJB2) are the most common cause of hereditary nonsyndromic sensorineural hearing loss (SNHL). DNA analysis of the Cx 26 gene in deaf or hard-of-hearing individuals frequently demonstrates heterozygosity despite the fact that most mutations are known to be recessive. A 342-kb deletion in a gene adjacent to Cx 26,
Masamichi Ito +2 more
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Connexin disorders of the skin
Clinics in Dermatology, 2005Over the past decade, the molecular basis of most disorders of cornification has been unveiled. Among these, a distinct group has emerged because of primary defects in cell-cell communication due to faulty gap junction proteins also known as connexins.
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Connexin mutations in X-linked Charcot-Marie-Tooth disease.
Science, 1993X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1. The gene for the gap junction protein connexin32 is located in the same chromosomal segment, which
J. Bergoffen +9 more
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Life Cycle of Connexins: Regulation of Connexin Synthesis and Degradation
2006Gap-junction-forming connexins (Cx) exhibit a complex life cycle which is regulated at various levels. First, the promoter regions and binding of transcription factors to them control the transcription of the connexin genes. Translation of Cx-mRNA seems to be enabled by internal ribosome entry site elements allowing translation even under stress ...
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2009
Vascular function requires the highly coordinated behavior of individual cells. The modulation of vascular resistance and blood flow required to match oxygen delivery to a wide dynamic range of tissue needs can be achieved only by coordinated diameter changes over large distances along the vessel.
Stephanie E. Wölfle, Cor de Wit
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Vascular function requires the highly coordinated behavior of individual cells. The modulation of vascular resistance and blood flow required to match oxygen delivery to a wide dynamic range of tissue needs can be achieved only by coordinated diameter changes over large distances along the vessel.
Stephanie E. Wölfle, Cor de Wit
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2009
Pannexins are a family of three vertebrate proteins that have moderate sequence homology with the innexin proteins, which compose gap junction channels in protostomes, including most invertebrates. However, it appears that in contrast to innexins, pannexins do not have the ability to form gap junction channels.
Andrew L. Harris, Gerhard Dahl
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Pannexins are a family of three vertebrate proteins that have moderate sequence homology with the innexin proteins, which compose gap junction channels in protostomes, including most invertebrates. However, it appears that in contrast to innexins, pannexins do not have the ability to form gap junction channels.
Andrew L. Harris, Gerhard Dahl
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2009
Vertebrate gap junctions, composed of integral membrane proteins encoded by the connexin gene family, are critically important in regulation of embryonic development, coordinated contraction of excitable cells, tissue homeostasis, normal cell growth, and differentiation.
Joell L. Solan, Paul D. Lampe
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Vertebrate gap junctions, composed of integral membrane proteins encoded by the connexin gene family, are critically important in regulation of embryonic development, coordinated contraction of excitable cells, tissue homeostasis, normal cell growth, and differentiation.
Joell L. Solan, Paul D. Lampe
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The connexin 43 C-terminus: A tail of many tales.
Biochimica et Biophysica Acta - Biomembranes, 2018E. Leithe, M. Mesnil, T. Aasen
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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
Nature, 1997D. Kelsell +7 more
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