Mutation of a type II keratin gene (K6a) in pachyonychia congenita

1995 ◽  
Vol 10 (3) ◽  
pp. 363-365 ◽  
Author(s):  
Paul E. Bowden ◽  
Joanne L. Haley ◽  
Aleksej Kansky ◽  
Joseph A. Rothnagel ◽  
David O. Jones ◽  
...  
Keyword(s):  
Type Ii ◽  
Keratin Gene ◽  
Pachyonychia Congenita

Pachyonychia congenita, type II

2003 ◽  
Vol 9 (4) ◽  
Author(s):  
Bruce E Strober
Keyword(s):  
Type Ii ◽  
Pachyonychia Congenita

Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity

1997 ◽  
Vol 137 (3) ◽  
pp. 339-343 ◽  
Author(s):  
M.A. BIRCH-MACHIN ◽  
E. HEALY ◽  
R. TURNER ◽  
F. HALDANE ◽  
C.E. BELGAID ◽  
...  
Keyword(s):  
Gene Cluster ◽  
Type Ii ◽  
Keratin Gene ◽  
Variable Expressivity

scholarly journals 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82

2020 ◽  
Vol 140 (7) ◽  
pp. S37
Author(s):  
S.O. Erjavec ◽  
S. Gelfman ◽  
A.R. Abdelaziz ◽  
E.Y. Lee ◽  
L. Petukhova ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Type Ii ◽  
Keratin Gene ◽  
Hair Keratin ◽  
Whole Exome ◽  
Hotspot Mutation

scholarly journals Keratins and protein synthesis: the plot thickens

2009 ◽  
Vol 187 (2) ◽  
pp. 157-159 ◽  
Author(s):  
Juliane C. Kellner ◽  
Pierre A. Coulombe
Keyword(s):  
Protein Synthesis ◽  
Cell Growth ◽  
Epithelial Cells ◽  
Mechanical Stress ◽  
Gene Cluster ◽  
Organelle Transport ◽  
Type Ii ◽  
Keratin Gene ◽  
Cell Biol ◽  
Keratin Proteins

In addition to protecting epithelial cells from mechanical stress, keratins regulate cytoarchitecture, cell growth, proliferation, apoptosis, and organelle transport. In this issue, Vijayaraj et al. (2009. J. Cell Biol. doi:10.1083/jcb.200906094) expand our understanding of how keratin proteins participate in the regulation of protein synthesis through their analysis of mice lacking the entire type II keratin gene cluster.

Pachyonychia Congenita Type II: A Case Report

2014 ◽  
Vol 2 (2) ◽  
pp. 204
Author(s):  
V. Sindhuri Reddy ◽  
M. Madhavi Latha ◽  
D. Masthan Saheb
Keyword(s):  
Case Report ◽  
Type Ii ◽  
Pachyonychia Congenita

scholarly journals Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13

2005 ◽  
Vol 124 (3) ◽  
pp. 536-544 ◽  
Author(s):  
Michael A. Rogers ◽  
Lutz Edler ◽  
Hermelita Winter ◽  
Lutz Langbein ◽  
Iris Beckmann ◽  
...  
Keyword(s):  
Gene Family ◽  
Type Ii ◽  
New Members ◽  
Keratin Gene ◽  
Human Type ◽  
General Evaluation

scholarly journals Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain

2000 ◽  
Vol 114 (3) ◽  
pp. 464-472 ◽  
Author(s):  
Michael A. Rogers ◽  
Hermelita Winter ◽  
Christian Wolf ◽  
Jürgen Schweizer ◽  
Lutz Langbein
Keyword(s):  
Type Ii ◽  
Keratin Gene ◽  
Hair Keratin ◽  
Human Dna

Complete sequence of a hair-like intermediate filament type II keratin gene

DNA Sequence ◽  
1993 ◽  
Vol 3 (6) ◽  
pp. 401-405 ◽  
Author(s):  
Barry C. Powell ◽  
Lesley A. Crocker ◽  
George E. Rogers
Keyword(s):  
Intermediate Filament ◽  
Complete Sequence ◽  
Type Ii ◽  
Keratin Gene ◽  
Filament Type
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