Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1

1999 ◽  
Vol 141 (6) ◽  
pp. 1010-1016 ◽  
Author(s):  
F.J.D. Smith ◽  
M. Del Monaco ◽  
P.M. Steijlen ◽  
C.S. Munro ◽  
M. Morvay ◽  
...  
Keyword(s):  
Keratin 16 ◽  
Proline Substitution ◽  
Substitution Mutations ◽  
Pachyonychia Congenita

Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma

2000 ◽  
Vol 9 (3) ◽  
pp. 170-177 ◽  
Author(s):  
F. J. D. Smith ◽  
M. P. Fisher ◽  
E. Healy ◽  
J. L. Rees ◽  
J. M. Bonifas ◽  
...  
Keyword(s):  
Protein Expression ◽  
Palmoplantar Keratoderma ◽  
Keratin 16 ◽  
Expression Studies ◽  
Pachyonychia Congenita

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1

1999 ◽  
Vol 19 (10) ◽  
pp. 941-946 ◽  
Author(s):  
Frances J. D. Smith ◽  
Victor A. McKusick ◽  
Karl Nielsen ◽  
Ellen Pfendner ◽  
Jouni Uitto ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Keratin 16 ◽  
Pachyonychia Congenita

scholarly journals Codon Substitution Mutations at Two Positions in the L Polymerase Protein of Human Parainfluenza Virus Type 1 Yield Viruses with a Spectrum of Attenuation In Vivo and Increased Phenotypic Stability In Vitro

2004 ◽  
Vol 78 (4) ◽  
pp. 2029-2036 ◽  
Author(s):  
Josephine M. McAuliffe ◽  
Sonja R. Surman ◽  
Jason T. Newman ◽  
Jeffrey M. Riggs ◽  
Peter L. Collins ◽  
...  
Keyword(s):  
Amino Acid ◽  
Nucleotide Substitution ◽  
Wild Type ◽  
Phenotypic Stability ◽  
Single Nucleotide ◽  
Codon Substitution ◽  
Substitution Mutations ◽  
Human Parainfluenza Virus

ABSTRACT The Y942H and L992F temperature-sensitive (ts) and attenuating amino acid substitution mutations, previously identified in the L polymerase of the HPIV3cp45 vaccine candidate, were introduced into homologous positions of the L polymerase of recombinant human parainfluenza virus type 1 (rHPIV1). In rHPIV1, the Y942H mutation specified the ts phenotype in vitro and the attenuation (att) phenotype in hamsters, whereas the L992F mutation specified neither phenotype. Each of these codon mutations was generated by a single nucleotide substitution and therefore had the potential to readily revert to a codon specifying the wild-type amino acid residue. We introduced alternative amino acid assignments at codon 942 or 992 as a strategy to increase genetic stability and to generate mutants that exhibit a range of attenuation. Twenty-three recombinants with codon substitutions at position 942 or 992 of the L protein were viable. One highly ts and att mutant, the Y942A virus, which had a difference of three nucleotides from the codon encoding a wild-type tyrosine, also possessed a high level of genetic and phenotypic stability upon serial passage in vitro at restrictive temperatures compared to that of the parent Y942H virus, which possessed a single nucleotide substitution. We obtained mutants with substitutions at position 992 that, in contrast to the L992F virus, possessed the ts and att phenotypes. These findings identify the use of alternative codon substitution mutations as a method that can be used to generate candidate vaccine viruses with increased genetic stability and/or a modified level of attenuation.

A novel missense mutation L468Q of keratin 6a in pachyonychia congenita type 1

2007 ◽  
Vol 21 (3) ◽  
pp. 351-355 ◽  
Author(s):  
H-L Zhou ◽  
S Yang ◽  
M Gao ◽  
X-Y Zhao ◽  
Y-G Zhu ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Pachyonychia Congenita

scholarly journals Pachyonychia congenita Type 1: Case report and review of the literature

2016 ◽  
Vol 61 (2) ◽  
pp. 196
Author(s):  
Anupam Das ◽  
PraveenKumar Rathore ◽  
Varun Khullar
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Pachyonychia Congenita

scholarly journals A Research of Pachyonychia Congenita Type 1 and Literature Analysis

2014 ◽  
Vol 04 (01) ◽  
pp. 16-21
Author(s):  
Kun Guo ◽  
Shengxiang Xiao ◽  
Songmei Geng
Keyword(s):  
Literature Analysis ◽  
Pachyonychia Congenita
Sign in / Sign up

Export Citation Format

Share Document