Literature DB >> 1658654

Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II.

P D Gorevic1, P C Munoz, G Gorgone, J J Purcell, M Rodrigues, J Ghiso, E Levy, M Haltia, B Frangione.   

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Year:  1991        PMID： 1658654     DOI： 10.1056/NEJM199112193252505

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  10 in total

1.  Complement neoantigen and vitronectin are components of plaques in amyloid AL neuropathy.

Authors:  G L Zanusso; G Moretto; B Bonetti; S Monaco; N Rizzuto
Journal:  Ital J Neurol Sci       Date:  1992-09

Review 2.  Disorder-to-order conformational transitions in protein structure and its relationship to disease.

Authors:  Paola Mendoza-Espinosa; Victor García-González; Abel Moreno; Rolando Castillo; Jaime Mas-Oliva
Journal:  Mol Cell Biochem       Date:  2009-04-09       Impact factor: 3.396

3.  Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type.

Authors:  Makiko Taira; Hiroyuki Ishiura; Jun Mitsui; Yuji Takahashi; Toshihiro Hayashi; Jun Shimizu; Takashi Matsukawa; Naoko Saito; Kazumasa Okada; Sadatoshi Tsuji; Hiromasa Sawamura; Shiro Amano; Jun Goto; Shoji Tsuji
Journal:  Neurogenetics       Date:  2012-05-24       Impact factor: 2.660

4.  Lactoferrin Glu561Asp facilitates secondary amyloidosis in the cornea.

Authors:  K Araki-Sasaki; Y Ando; M Nakamura; K Kitagawa; S Ikemizu; T Kawaji; T Yamashita; M Ueda; K Hirano; M Yamada; K Matsumoto; S Kinoshita; H Tanihara
Journal:  Br J Ophthalmol       Date:  2005-06       Impact factor: 4.638

5.  TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies.

Authors:  Johanna Gonzalez-Rodriguez; Arturo Ramirez-Miranda; Sergio E Hernandez-Da Mota; Juan C Zenteno
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2014-05-07       Impact factor: 3.117

6.  Human islet amyloid polypeptide expression in COS-1 cells. A model of intracellular amyloidogenesis.

Authors:  T D O'Brien; P C Butler; D K Kreutter; L A Kane; N L Eberhardt
Journal:  Am J Pathol       Date:  1995-09       Impact factor: 4.307

7.  Immunohistochemical analysis of lattice corneal dystrophies types I and II.

Authors:  T Kivelä; A Tarkkanen; I McLean; J Ghiso; B Frangione; M Haltia
Journal:  Br J Ophthalmol       Date:  1993-12       Impact factor: 4.638

8.  Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1.

Authors:  L Hamidi Asl; J J Liepnieks; K Hamidi Asl; T Uemichi; G Moulin; E Desjoyaux; R Loire; M Delpech; G Grateau; M D Benson
Journal:  Am J Pathol       Date:  1999-01       Impact factor: 4.307

9.  Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV).

Authors:  R D Steiner; T Paunio; T Uemichi; J P Evans; M D Benson
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132

10.  Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation.

Authors:  Jesus Cabral-Macias; Leopoldo A Garcia-Montaño; Mario Pérezpeña-Díazconti; Marisa-Cruz Aguilar; Guillermo Garcia; Carlos I Vencedor-Meraz; Enrique O Graue-Hernandez; Oscar F Chacón-Camacho; Juan C Zenteno
Journal:  Mol Vis       Date:  2020-05-02       Impact factor: 2.367
  10 in total

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