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Keywords: Mutation
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Journal Articles
J Cell Sci (2022) 135 (8): jcs259587.
Published: 25 April 2022
... and K496E variant proteins accumulate in Cajal bodies. However, high-level overexpression of coilin-K496E causes Cajal body disintegration. Thus, a mutation in the C-terminal region of human coilin can disrupt Cajal body assembly. Caution should be used when interpreting data from coilin plasmids...
Includes: Supplementary data
Journal Articles
J Cell Sci (2021) 134 (15): jcs250167.
Published: 3 August 2021
...Sujin Kim; Younglan Lim; So-Young Lee; Han-Na Yoon; Hayan Yi; Kwi-Hoon Jang; Nam-On Ku ABSTRACT Keratin 8 (K8) is the cytoskeletal intermediate filament protein of simple-type epithelia. Mutations in K8 predispose the affected individual and transgenic mouse to liver disease. However, the role...
Includes: Supplementary data
Journal Articles
Journal Articles
J Cell Sci (2014) 127 (8): 1751–1764.
Published: 15 April 2014
... the underlying mechanisms of four autosomal dominant Cx30 gene mutations that are linked to hearing loss and/or various skin diseases. First, the T5M mutant linked to non-syndromic hearing loss formed functional gap junction channels and hemichannels, similar to wild-type Cx30. The loss-of-function V37E mutant...
Includes: Supplementary data
Journal Articles
J Cell Sci (2007) 120 (23): 4107–4116.
Published: 1 December 2007
...Adam M. DeRosa; Chun-Hong Xia; Xiaohua Gong; Thomas W. White Mutations within connexin50 (Cx50) have been linked to various cataract phenotypes. To determine the mechanism behind cataract formation we used the paired Xenopus oocyte system in conjunction with transfected HeLa cells and genetically...
Includes: Supplementary data
Journal Articles
J Cell Sci (2002) 115 (4): 805–816.
Published: 15 February 2002
... is transferred, is either Ser,Asp or Asn, the ω+2 amino acid is always Ser, and the ω+7 amino acid is almost always Lys. In order to determine whether this high conservation is necessary for GPI anchoring, we introduced several mutations into the signal peptide. Surprisingly, changing the most conserved amino...
Journal Articles
Journal Articles
J Cell Sci (1999) 112 (13): 2213–2221.
Published: 1 July 1999
... ovary cells with cDNAs encoding epitope-tagged class I, II, and IVb β-tubulins, as well as a class I β-tubulin with a mutation previously characterized in a paclitaxel resistant mutant. To eliminate possible toxicity that might be associated with overexpression of non-native tubulin, each of the cDNAs...