scholarly journals Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus

1995 ◽  
Vol 11 (4) ◽  
pp. 453-455 ◽  
Author(s):  
Gabriela Richard ◽  
Vincenzo De Laurenzi ◽  
Biagio Didona ◽  
Sherri J. Bale ◽  
John G. Compton
Keyword(s):  
Point Mutation ◽  
Keratin 13 ◽  
White Sponge Nevus

A Novel Mutation in the Keratin 13 Gene Causing Oral White Sponge Nevus

2001 ◽  
Vol 80 (3) ◽  
pp. 919-923 ◽  
Author(s):  
A. Terrinoni ◽  
E.L. Rugg ◽  
E.B. Lane ◽  
G. Melino ◽  
D.H. Felix ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Keratin 13 ◽  
White Sponge Nevus

Constitutional mutation of keratin 13 gene in familial white sponge nevus

2003 ◽  
Vol 96 (5) ◽  
pp. 561-565 ◽  
Author(s):  
Yasuyuki Shibuya ◽  
Jianming Zhang ◽  
Satoshi Yokoo ◽  
Masahiro Umeda ◽  
Takahide Komori
Keyword(s):  
Keratin 13 ◽  
White Sponge Nevus

scholarly journals A novel keratin 13 variant in a four-generation family with white sponge nevus

2017 ◽  
Vol 5 (9) ◽  
pp. 1503-1509 ◽  
Author(s):  
Stephanie B. de Haseth ◽  
Egbert Bakker ◽  
Maarten H. Vermeer ◽  
Hakima el Idrissi ◽  
Tjalling Bosse ◽  
...  
Keyword(s):  
Generation Family ◽  
Keratin 13 ◽  
White Sponge Nevus

Mutations in the genes for keratin-4 and keratin-13 in Swedish patients with white sponge nevus

2017 ◽  
Vol 47 (2) ◽  
pp. 152-157 ◽  
Author(s):  
Maria Westin ◽  
Elham Rekabdar ◽  
Lena Blomstrand ◽  
Per Klintberg ◽  
Mats Jontell ◽  
...  
Keyword(s):  
Keratin 13 ◽  
White Sponge Nevus

scholarly journals Keratin 13 mutations associated with oral white sponge nevus in two Chinese families

Meta Gene ◽  
2014 ◽  
Vol 2 ◽  
pp. 374-383 ◽  
Author(s):  
Wenping Cai ◽  
Zhenghu Chen ◽  
Beizhan Jiang ◽  
Fang Yu ◽  
Ping Xu ◽  
...  
Keyword(s):  
Chinese Families ◽  
Keratin 13 ◽  
White Sponge Nevus

Current approaches to the diagnosis and treatment of white sponge nevus

2015 ◽  
Vol 17 ◽  
Author(s):  
Wenping Cai ◽  
Beizhan Jiang ◽  
Fang Yu ◽  
Jianhua Yang ◽  
Zhenghu Chen ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Animal Models ◽  
Oral Mucosa ◽  
Genetic Disease ◽  
Recent Progress ◽  
Autosomal Dominant ◽  
Future Directions ◽  
Keratin 13 ◽  
Near Future ◽  
White Sponge Nevus

White sponge nevus (WSN) in the oral mucosa is a rare autosomal dominant genetic disease. The involved mucosa is white or greyish, thickened, folded and spongy. The genes associated with WSN include mutant cytokeratin keratin 4 (KRT4) and keratin 13 (KRT13). In recent years, new cases of WSN and associated mutations have been reported. Here, we summarise the recent progress in our understanding of WSN, including clinical reports, genetics, animal models, treatment, pathogenic mechanisms and future directions. Gene-based diagnosis and gene therapy for WSN may become available in the near future and could provide a reference and instruction for treating other KRT-associated diseases.

scholarly journals Keratin 13 deficiency causes white sponge nevus in mice

2020 ◽  
Vol 468 (1-2) ◽  
pp. 146-153
Author(s):  
Laura Simonson ◽  
Samantha Vold ◽  
Colton Mowers ◽  
Randall J. Massey ◽  
Irene M. Ong ◽  
...  
Keyword(s):  
Keratin 13 ◽  
White Sponge Nevus

Paris I Dysfibrinogenemia: A Point Mutation in Intron 8 Results in Insertion of a 15 Amino Acid Sequence in the Fibrinogen γ-Chain

1993 ◽  
Vol 69 (03) ◽  
pp. 217-220 ◽  
Author(s):  
Jonathan B Rosenberg ◽  
Peter J Newman ◽  
Michael W Mosesson ◽  
Marie-Claude Guillin ◽  
David L Amrani
Keyword(s):  
Amino Acid ◽  
Amino Acid Sequence ◽  
Point Mutation ◽  
Genomic Dna ◽  
Comparative Sequence Analysis ◽  
Chain Gene ◽  
Molecular Defect ◽  
Nucleotide Position ◽  
Normal Individuals ◽  
Polymerase Chain

SummaryParis I dysfibrinogenemia results in the production of a fibrinogen molecule containing a functionally abnormal γ-chain. We determined the basis of the molecular defect using polymerase chain reaction (PCR) to amplify the γ-chain region of the Paris I subject’s genomic DNA. Comparative sequence analysis of cloned PCR segments of normal and Paris I genomic DNA revealed only an A→G point mutation occurring at nucleotide position 6588 within intron 8 of the Paris I γ-chain gene. We examined six normal individuals and found only normal sequence in this region, indicating that this change is not likely to represent a normal polymorphism. This nucleotide change leads to a 45 bp fragment being inserted between exons 8 and 9 in the mature γparis I chain mRNA, and encodes a 15 amino acid insert after γ350 [M-C-G-E-A-L-P-M-L-K-D-P-C-Y]. Alternative splicing of this region from intron 8 into the mature Paris I γ-chain mRNA also results after translation into a substitution of S for G at position γ351. Biochemical studies of 14C-iodoacetamide incorporation into disulfide-reduced Paris I and normal fibrinogen corroborated the molecular biologic predictions that two additional cysteine residues exist within the γpariS I chain. We conclude that the insertion of this amino acid sequence leads to a conformationallyaltered, and dysfunctional γ-chain in Paris I fibrinogen.

Skeletal and bone material phenotype in recessive osteogenesis imperfecta due to a novel homozygous point mutation in TMEM38B

2015 ◽  
Author(s):  
Emma Webb ◽  
Meena Balasubramanian ◽  
Trevor Cole ◽  
Sue Stewart ◽  
Nicola Crabtree ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Point Mutation ◽  
Bone Material
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