Literature DB >> 9399907

Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy.

Y Mashima, Y Imamura, M Konishi, A Nagasawa, M Yamada, Y Oguchi, J Kudoh, N Shimizu.   

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Year:  1997        PMID： 9399907      PMCID： PMC1716082          DOI： 10.1086/301649

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  18 in total

1.  Superficial granular corneal dystrophy with amyloid deposits.

Authors:  S L Owens; J Sugar; D P Edward
Journal:  Arch Ophthalmol       Date:  1992-02

2.  Histochemistry of corneal granular dystrophy.

Authors:  A Garner
Journal:  Br J Ophthalmol       Date:  1969-12       Impact factor: 4.638

3.  Granular dystrophy of the cornea. Characteristic electron microscopic lesion.

Authors:  S Akiya; S I Brown
Journal:  Arch Ophthalmol       Date:  1970-08

4.  Kerato-epithelin mutations in four 5q31-linked corneal dystrophies.

Authors:  F L Munier; E Korvatska; A Djemaï; D Le Paslier; L Zografos; G Pescia; D F Schorderet
Journal:  Nat Genet       Date:  1997-03       Impact factor: 38.330

5.  Granular-lattice (Avellino) corneal dystrophy in Japanese patients.

Authors:  M Konishi; Y Mashima; Y Nakamura; M Yamada; H Sugiura
Journal:  Cornea       Date:  1997-11       Impact factor: 2.651

6.  Unusual superficial variant of granular dystrophy of the cornea.

Authors:  R Haddad; R L Font; B S Fine
Journal:  Am J Ophthalmol       Date:  1977-02       Impact factor: 5.258

7.  Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits. A study of these families.

Authors:  R Folberg; E Alfonso; J O Croxatto; N G Driezen; N Panjwani; P R Laibson; S A Boruchoff; J Baum; E S Malbran; R Fernandez-Meijide
Journal:  Ophthalmology       Date:  1988-01       Impact factor: 12.079

8.  Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations.

Authors:  M D Brown; A Torroni; C L Reckord; D C Wallace
Journal:  Hum Mutat       Date:  1995       Impact factor: 4.878

9.  Mapping of Reis-Bücklers' corneal dystrophy to chromosome 5q.

Authors:  K W Small; L Mullen; J Barletta; K Graham; B Glasgow; G Stern; R Yee
Journal:  Am J Ophthalmol       Date:  1996-04       Impact factor: 5.258

10.  Superficial juvenile granular dystrophy.

Authors:  S H Sajjadi; M A Javadi
Journal:  Ophthalmology       Date:  1992-01       Impact factor: 12.079
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  8 in total

1.  TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy.

Authors:  Ai-Rui Xie; Su-Ping Cai; Yin Yang; Yin-Chuan Fan; Wen-Han Yu; Li-Heng Guo; Qiao-Na Yang; Jin Zhu; Xu-Yang Liu
Journal:  Int J Ophthalmol       Date:  2011-06-18       Impact factor: 1.779

2.  A recognition survey of granular corneal dystrophy type 2 genetic detection in China.

Authors:  Xin-Rui Wang; Bi-Ting Zhou; Qing-Mei Zheng; Ya-Duan Wang; Qiu-Kai Huang; Xuan Song; He Wang; Nan-Wen Zhang; Yi-Hua Zhu; Xiao-Le Chen; Ju-Hua Yang
Journal:  Int J Ophthalmol       Date:  2020-12-18       Impact factor: 1.779

3.  Chromosomal sharing in atypical cases of gelatinous drop-like corneal dystrophy.

Authors:  Motokazu Tsujikawa; Naoyuki Maeda; Kaoru Tsujikawa; Yuichi Hori; Tomoyuki Inoue; Kohji Nishida
Journal:  Jpn J Ophthalmol       Date:  2010-11-05       Impact factor: 2.447

4.  Polymorphic fibrillation of the destabilized fourth fasciclin-1 domain mutant A546T of the Transforming growth factor-β-induced protein (TGFBIp) occurs through multiple pathways with different oligomeric intermediates.

Authors:  Maria Andreasen; Søren B Nielsen; Kasper Runager; Gunna Christiansen; Niels Chr Nielsen; Jan J Enghild; Daniel E Otzen
Journal:  J Biol Chem       Date:  2012-08-14       Impact factor: 5.157

5.  Molecular genetics of Chinese families with TGFBI corneal dystrophies.

Authors:  Ting Zhang; Naihong Yan; Wenhan Yu; Yun Liu; Guo Liu; Xiaomei Wu; Jinxian Lian; Xuyang Liu
Journal:  Mol Vis       Date:  2011-02-04       Impact factor: 2.367

6.  Rapid genotyping for most common TGFBI mutations with real-time polymerase chain reaction.

Authors:  Shigeo Yoshida; Yoko Yamaji; Ayako Yoshida; Yoshihiro Noda; Yuji Kumano; Tatsuro Ishibashi
Journal:  Hum Genet       Date:  2005-03-03       Impact factor: 4.132

7.  Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients.

Authors:  Y Mashima; M Konishi; Y Nakamura; Y Imamura; M Yamada; T Ogata; J Kudoh; N Shimizu
Journal:  Br J Ophthalmol       Date:  1998-11       Impact factor: 4.638

8.  Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations.

Authors:  Wenping Cao; Hongyan Ge; Xiaobo Cui; Lu Zhang; Jing Bai; Songbin Fu; Ping Liu
Journal:  Mol Vis       Date:  2009-01-14       Impact factor: 2.367
  8 in total

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