- ►nih.gov AD Irvine, CM Coleman, JE Moore, O … - British Journal of Ophthalmology, 2002 - bjo.bmj.com Results: The abnormal corneal epithelium was acanthotic and contained numerous
dyskeratotic cells and intraepithelial vesicles. By electron microscopy
abnormally aggregated and clumped keratin filament bundles were detected in ... Cited by 17 - Related articles - BL Direct - All 7 versions
- ►nih.gov - Free from Publisher MK Yoon, JF Warren, DS Holsclaw, DC Gritz, … - British Journal of Ophthalmology, 2004 - bjo.bmj.com Results: Novel mutations of the K12 gene were identified in both patients. In
one patient a heterozygous point mutation (429A→C = Arg135Ser) was found in
the 1A domain of the K12 gene. This mutation was confirmed by restriction ... Cited by 12 - Related articles - BL Direct - All 8 versions
K Takahashi, A Murakami, S Okisaka, T … - Jpn J Ophthalmol, 2002 - nichigan.or.jp *Department of Ophthalmology, Juntendo University School of Medicine, Tokyo,
Japan; †Department of Dermatology, Gunma University School of Medicine, Gunma,
Japan; ‡Department of Ophthalmology, National Defense Medical College, ... Cited by 10 - Related articles - All 5 versions
- ►nih.gov [PDF] - Free from Publisher LD Corden, O Swensson, B Swensson, R … - British Journal of Ophthalmology, 2000 - bjo.bmj.com METHODS Slit lamp examination of the cornea in four members of the kindred was
carried out to confirm the diagnosis of MCD. The region encoding the helix
initiation motif (HIM) of the K12 polypeptide was polymerase chain reaction ... Cited by 28 - Related articles - BL Direct - All 8 versions
- ►irovision.ch [PDF] O Nichini, VA Manzi, FL Munier, DF … - Ophthalmic Genetics, 2005 - informahealthcare.com Purpose: Meesmann corneal dystrophy (MECD) is an autosomal dominant disorder
affecting the corneal epithelium. It is caused by heterozygous mutations in KRT3
or KRT12 gene. Actually, 14 mutations have been reported, 1 in KRT3 and 13 ... Cited by 7 - Related articles - BL Direct - All 11 versions
YT Chen, SH Tseng, SC Chao - Cornea, 2005 - journals.lww.com From the *Department of Ophthalmology, College of Medicine, National Cheng Kung
University, Tainan, Taiwan; †Institute of Clinical Medicine, College of
Medicine, National Cheng Kung University, Tainan, Taiwan; and ‡Department ... Cited by 13 - Related articles - BL Direct - All 4 versions
LD CORDEN, OLE SWENSSON, B SWENSSON, … - Experimental eye research, 2000 - Elsevier Recently, we identified the first mutations in corneal keratins K3 and K12 in
families with Meesmann's corneal dystrophy (MCD). Here, we sequenced all regions
of the human K12 gene, to enable mutation detection for all exons using ... Cited by 31 - Related articles - BL Direct - All 6 versions
CM Coleman, S Hannush, SP Covello, FJD … - American journal of ophthalmology, 1999 - Elsevier PURPOSE: Meesmann corneal dystrophy is an autosomal dominant disorder
characterized by fragility of the anterior corneal epithelium. We have
previously demonstrated that this disease can be caused by mutations in the ... Cited by 28 - Related articles - All 15 versions
[CITATION] Klinische und anatomische Untersuchungen über eine bisher unbekannte, dominant …
- ►nih.gov [PDF] K Nishida, Y Honma, A Dota, S Kawasaki, W … - The American Journal of Human Genetics, 1997 - Elsevier Keratin 12 (K12) is an intermediate-filament protein expressed specifically in
corneal epithelium. Recently, we isolated K12 cDNA from a human corneal
epithelial cDNA library and determined its full sequence. Herein, we ... Cited by 59 - Related articles - BL Direct - All 7 versions
