scholarly journals Allele-Specific siRNA Silencing for the Common Keratin 12 Founder Mutation in Meesmann Epithelial Corneal Dystrophy

2013 ◽  
Vol 54 (1) ◽  
pp. 494 ◽  
Author(s):  
Edwin H. A. Allen ◽  
Sarah D. Atkinson ◽  
Haihui Liao ◽  
Jonathan E. Moore ◽  
Deena M. Leslie Pedrioli ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Corneal Dystrophy ◽  
Allele Specific ◽  
The Common ◽  
Sirna Silencing ◽  
Keratin 12

siRNA Silencing of the Mutant Keratin 12 Allele in Corneal Limbal Epithelial Cells Grown From Patients With Meesmann's Epithelial Corneal Dystrophy

2014 ◽  
Vol 55 (5) ◽  
pp. 3352 ◽  
Author(s):  
David G. Courtney ◽  
Sarah D. Atkinson ◽  
Edwin H. A. Allen ◽  
Johnny E. Moore ◽  
Colum P. Walsh ◽  
...  
Keyword(s):  
Epithelial Cells ◽  
Corneal Dystrophy ◽  
Sirna Silencing ◽  
Keratin 12

scholarly journals Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy

2016 ◽  
Vol 25 (6) ◽  
pp. 1176-1191 ◽  
Author(s):  
Edwin H.A. Allen ◽  
David G. Courtney ◽  
Sarah D. Atkinson ◽  
Johnny E. Moore ◽  
Laura Mairs ◽  
...  
Keyword(s):  
Unfolded Protein Response ◽  
Missense Mutation ◽  
Corneal Dystrophy ◽  
Unfolded Protein ◽  
The Unfolded Protein Response ◽  
Protein Response ◽  
Keratin 12

scholarly journals Exclusion of Positional Candidate Gene Coding Region Mutations in the Common Posterior Polymorphous Corneal Dystrophy 1 Candidate Gene Interval

Cornea ◽  
2009 ◽  
Vol 28 (7) ◽  
pp. 801-807 ◽  
Author(s):  
Anthony J Aldave ◽  
Vivek S Yellore ◽  
Rosalind C Vo ◽  
Khairidzan M Kamal ◽  
Sylvia A Rayner ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Corneal Dystrophy ◽  
Positional Candidate Gene ◽  
Coding Region ◽  
Positional Candidate ◽  
Gene Coding ◽  
Posterior Polymorphous Corneal Dystrophy ◽  
The Common

Homozygous mutation inNUP107leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

2017 ◽  
Vol 54 (6) ◽  
pp. 399-403 ◽  
Author(s):  
Rasim Ozgur Rosti ◽  
Bethany N Sotak ◽  
Stephanie L Bielas ◽  
Gifty Bhat ◽  
Jennifer L Silhavy ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Founder Mutation ◽  
Critical Role ◽  
Homozygous Mutation ◽  
Nuclear Pores ◽  
Steroid Resistant ◽  
Binding Partner ◽  
Autozygosity Mapping ◽  
Concomitant Reduction ◽  
Allele Specific

BackgroundMicrocephaly with nephrotic syndrome is a rare co-occurrence, constituting the Galloway-Mowat syndrome (GAMOS), caused by mutations inWDR73(OMIM: 616144). However, not all patients harbour demonstrableWDR73deleterious variants, suggesting that there are other yet unidentified factors contributing to GAMOS aetiology.MethodsAutozygosity mapping and candidate analysis was used to identify deleterious variants in consanguineous families. Analysis of patient fibroblasts was used to study splicing and alterations in cellular function.ResultsIn two consanguineous families with five affected individuals from Turkey with a GAMOS-like presentation, we identified a shared homozygous variant leading to partial exon 4 skipping innucleoporin, 107-KD(NUP107). The founder mutation was associated with concomitant reduction in NUP107 protein and in the obligate binding partner NUP133 protein, as well as density of nuclear pores in patient cells.ConclusionRecently,NUP107was suggested as a candidate in a family with nephrotic syndrome and developmental delay. OtherNUP107-reported cases had isolated renal phenotypes. With the addition of these individuals, we implicate an allele-specific critical role forNUP107in the regulation of brain growth and a GAMOS-like presentation.

scholarly journals Linked Linear Amplification for Simultaneous Analysis of the Two Most Common Hemochromatosis Mutations

2003 ◽  
Vol 49 (7) ◽  
pp. 1050-1057 ◽  
Author(s):  
Anthony A Killeen ◽  
John W Breneman ◽  
Arlene R Carillo ◽  
Jason Liu ◽  
Craig S Hixson
Keyword(s):  
Hereditary Hemochromatosis ◽  
Colorimetric Method ◽  
Rflp Analysis ◽  
Wild Type ◽  
Linear Amplification ◽  
Pcr Rflp ◽  
Homozygous Mutant ◽  
Allele Specific ◽  
Novel Method ◽  
The Common

Abstract Background: Two mutations in HFE, G845A (amino acid substitution C282Y) and C187G (H63D), are associated with hereditary hemochromatosis. We developed and validated a novel method, linked linear amplification (LLA), for detection of these two mutations. Methods: Two segments of HFE were amplified by a multiplex LLA reaction that generated biotinylated LLA products. Aliquots of the multiplex LLA reaction were captured in microwells by hybridization to immobilized allele-specific oligonucleotides (ASOs). One wild-type and one mutant ASO represented the DNA sequence at each of the two mutation sites. Hybridization was detected by a streptavidin–horseradish peroxidase-based colorimetric method. Genotypes obtained by LLA and PCR-restriction fragment length polymorphism (PCR-RFLP) methods for 320 individuals were compared. Results: The amplified samples included the following genotypes as determined by PCR-RFLP: wild-type 282 and 63 codons (n = 105), C282Y homozygous mutant (n = 54), C282Y heterozygous (n = 52), H63D homozygous mutant (n = 17), H63D heterozygous (n = 59), and compound H63D and C282Y heterozygous mutant (n = 33). There was complete concordance between the results obtained by LLA and those obtained by PCR-RFLP analysis. The presence of another HFE mutation, A193T (encoding S65C), did not interfere with genotyping at codon 63. Conclusions: LLA provides a reliable method to detect the common mutations in HFE that cause hereditary hemochromatosis.

MG-107 Congenital sucrase-isomaltase deficiency: Identification of the common inuit founder mutation

2015 ◽  
Vol 52 (Suppl 1) ◽  
pp. A1.3-A2
Author(s):  
Julien L Marcadier ◽  
Margaret Boland ◽  
C Ronald Scott ◽  
Kheirie Issa ◽  
Zaining Wu ◽  
...  
Keyword(s):  
Founder Mutation ◽  
The Common

Lattice Corneal Dystrophy Type IV (p.Leu527Arg) Is Caused by a Founder Mutation of theTGFBIGene in a Single Japanese Ancestor

2010 ◽  
Vol 51 (9) ◽  
pp. 4523 ◽  
Author(s):  
Hideki Fukuoka ◽  
Satoshi Kawasaki ◽  
Kenta Yamasaki ◽  
Akira Matsuda ◽  
Akiko Fukumoto ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Corneal Dystrophy ◽  
Lattice Corneal Dystrophy ◽  
Type Iv

Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA

2002 ◽  
Vol 113 (1) ◽  
pp. 20-22 ◽  
Author(s):  
Kaoru Tsujikawa ◽  
Motokazu Tsujikawa ◽  
Shuji Yamamoto ◽  
Takashi Fujikado ◽  
Yasuo Tano
Keyword(s):  
Founder Mutation ◽  
Japanese Patients ◽  
Corneal Dystrophy ◽  
Lattice Corneal Dystrophy ◽  
Type Iiia
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