| scholarly article | Q13442814 |
| P50 | author | Eric C. Beyer | Q37370738 |
| P2093 | author name string | Viviana M Berthoud | |
| Jun-Jie Tong | |||
| Lisa Ebihara | |||
| Peter J Minogue | |||
| Tung-Ling Chen | |||
| Wenji Guo | |||
| P2860 | cites work | GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation | Q48261886 |
| The cataract-inducing S50P mutation in Cx50 dominantly alters the channel gating of wild-type lens connexins | Q48772753 | ||
| Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness | Q48795296 | ||
| Connexin46 mutations linked to congenital cataract show loss of gap junction channel function | Q48886178 | ||
| Characterization of a mouse Cx50 mutation associated with the No2 mouse cataract. | Q48913945 | ||
| Molecular mechanism underlying a Cx50-linked congenital cataract | Q48915915 | ||
| Expression of gap junctional proteins in Xenopus oocyte pairs. | Q50795605 | ||
| GJB2mutations in keratitis-ichthyosis-deafness syndrome including its fatal form | Q57637012 | ||
| Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness | Q73168949 | ||
| Connexin channels in Schwann cells and the development of the X-linked form of Charcot-Marie-Tooth disease | Q73635193 | ||
| Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation | Q24294428 | ||
| A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract | Q24655185 | ||
| Structure of the connexin 26 gap junction channel at 3.5 A resolution | Q27654539 | ||
| Connexin 26 mutations in hereditary non-syndromic sensorineural deafness | Q28115871 | ||
| Connexin32 and X-linked Charcot-Marie-Tooth disease | Q28253962 | ||
| Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome | Q33950693 | ||
| Xenopus connexin38 forms hemi-gap-junctional channels in the nonjunctional plasma membrane of Xenopus oocytes | Q34040301 | ||
| Distinct behavior of connexin56 and connexin46 gap junctional channels can be predicted from the behavior of their hemi-gap-junctional channels | Q34129363 | ||
| Structural and functional diversity of connexin genes in the mouse and human genome | Q34137753 | ||
| Hemichannel and junctional properties of connexin 50. | Q34177646 | ||
| Structural determinants for the differences in voltage gating of chicken Cx56 and Cx45.6 gap-junctional hemichannels | Q35012370 | ||
| Molecular genetic basis of inherited cataract and associated phenotypes | Q35757138 | ||
| Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome | Q35764888 | ||
| Regulation of connexin hemichannels by monovalent cations | Q36295532 | ||
| Molecular determinants of electrical rectification of single channel conductance in gap junctions formed by connexins 26 and 32. | Q36436236 | ||
| Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannels | Q36445008 | ||
| A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin | Q36479042 | ||
| A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin | Q36731337 | ||
| Loop gating of connexin hemichannels involves movement of pore-lining residues in the first extracellular loop domain | Q37094208 | ||
| Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50 | Q37222714 | ||
| Conformational changes in a pore-forming region underlie voltage-dependent "loop gating" of an unapposed connexin hemichannel | Q37268155 | ||
| An aberrant sequence in a connexin46 mutant underlies congenital cataracts. | Q37288625 | ||
| A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. | Q37373627 | ||
| Bovine connexin44, a lens gap junction protein: molecular cloning, immunologic characterization, and functional expression. | Q38304561 | ||
| Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fiber protein MP70 | Q40241212 | ||
| Loss of function and impaired degradation of a cataract-associated mutant connexin50. | Q40640625 | ||
| A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels | Q42605336 | ||
| A mutant connexin50 with enhanced hemichannel function leads to cell death | Q42699037 | ||
| Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract | Q43006704 | ||
| Connexin 26 gene linked to a dominant deafness | Q47991729 | ||
| P433 | issue | 5 | |
| P304 | page(s) | C1055-64 | |
| P577 | publication date | 2011-01-12 | |
| P1433 | published in | American Journal of Physiology - Cell Physiology | Q2227080 |
| P1476 | title | Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50 | |
| P478 | volume | 300 |
| Q37012453 | A connexin50 mutant, CX50fs, that causes cataracts is unstable, but is rescued by a proteasomal inhibitor |
| Q38615181 | Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract |
| Q21129235 | Connexin and Pannexin hemichannels are regulated by redox potential |
| Q38191602 | Connexin hemichannels in the lens. |
| Q36763879 | Connexin mutants and cataracts |
| Q36031035 | Connexinopathies: a structural and functional glimpse |
| Q26797404 | Diseases associated with leaky hemichannels |
| Q37575363 | Functional effects of Cx50 mutations associated with congenital cataracts. |
| Q37261641 | Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract |
| Q39321400 | Gap junction structure: unraveled, but not fully revealed |
| Q37426508 | Heterozygous connexin 50 mutation affects metabolic syndrome attributes in spontaneously hypertensive rat. |
| Q34652632 | Identification and functional analysis of GJA8 mutation in a Chinese family with autosomal dominant perinuclear cataracts |
| Q36928431 | Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts |
| Q41634572 | Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing |
| Q36951964 | Insights on the mechanisms of Ca(2+) regulation of connexin26 hemichannels revealed by human pathogenic mutations (D50N/Y). |
| Q85592038 | Mutant connexin 50 (S276F) inhibits channel and hemichannel functions inducing cataract |
| Q49723099 | New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. |
| Q41546939 | PASE: a novel method for functional prediction of amino acid substitutions based on physicochemical properties |
| Q36836123 | Properties of two cataract-associated mutations located in the NH2 terminus of connexin 46. |
| Q90286819 | Structural determinants underlying permeant discrimination of the Cx43 hemichannel |
| Q40998290 | Structure-function correlation analysis of connexin50 missense mutations causing congenital cataract: electrostatic potential alteration could determine intracellular trafficking fate of mutants. |
| Q35857325 | The First Extracellular Domain Plays an Important Role in Unitary Channel Conductance of Cx50 Gap Junction Channels |
| Q36288351 | The unfolded protein response is activated in connexin 50 mutant mouse lenses. |
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