Literature DB >> 23300176

Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.

Muriel Giansily-Blaizot, Séverine Cunat, Grégory Moulis, Jean-François Schved, Patricia Aguilar-Martinez.   

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Year:  2013        PMID： 23300176      PMCID： PMC3660001          DOI： 10.3324/haematol.2012.077198

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  12 in total

1.  A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome.

Authors:  P Aguilar-Martinez; C Biron; C Masmejean; P Jeanjean; J F Schved
Journal:  Blood       Date:  1996-09-01       Impact factor: 22.113

Review 2.  Hereditary hyperferritinaemia/ cataract syndrome.

Authors:  Mario Cazzola
Journal:  Best Pract Res Clin Haematol       Date:  2002-06       Impact factor: 3.020

3.  The hereditary hyperferritinemia-cataract syndrome: a family study.

Authors:  Javier Álvarez-Coca-González; María-Isabel Moreno-Carralero; Jorge Martínez-Pérez; Manuel Méndez; Marta García-Ros; María-Josefa Morán-Jiménez
Journal:  Eur J Pediatr       Date:  2010-07-09       Impact factor: 3.183

4.  Lens changes in hereditary hyperferritinemia-cataract syndrome.

Authors:  A Chang-Godinich; S Ades; D Schenkein; D Brooks; D Stambolian; M B Raizman
Journal:  Am J Ophthalmol       Date:  2001-11       Impact factor: 5.258

5.  Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations.

Authors:  Jamie E Craig; J Benedict Clark; Janet L McLeod; Mark A Kirkland; Glenys Grant; James E Elder; Michael G Toohey; Lionel Kowal; Helen F Savoia; Celia Chen; Sarah Roberts; M Gabriela Wirth; David A Mackey
Journal:  Arch Ophthalmol       Date:  2003-12

6.  A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract.

Authors:  D Girelli; O Olivieri; L De Franceschi; R Corrocher; G Bergamaschi; M Cazzola
Journal:  Br J Haematol       Date:  1995-08       Impact factor: 6.998

7.  Homozygotes for the autosomal dominant neoplasia syndrome (MEN1).

Authors:  M L Brandi; G Weber; A Svensson; A Falchetti; F Tonelli; R Castello; L Furlani; S Scappaticci; M Fraccaro; C Larsson
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

8.  Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.

Authors:  C Beaumont; P Leneuve; I Devaux; J Y Scoazec; M Berthier; M N Loiseau; B Grandchamp; D Bonneau
Journal:  Nat Genet       Date:  1995-12       Impact factor: 38.330

9.  Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation")

Authors:  D Girelli; R Corrocher; L Bisceglia; O Olivieri; L De Franceschi; L Zelante; P Gasparini
Journal:  Blood       Date:  1995-12-01       Impact factor: 22.113

10.  A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins.

Authors:  C Camaschella; G Zecchina; G Lockitch; A Roetto; A Campanella; P Arosio; S Levi
Journal:  Br J Haematol       Date:  2000-03       Impact factor: 6.998
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  2 in total

1.  Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome.

Authors:  Stijn Van de Sompele; Lucie Pécheux; Jorge Couso; Audrey Meunier; Mayka Sanchez; Elfride De Baere
Journal:  Sci Rep       Date:  2017-12-21       Impact factor: 4.379

2.  Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.

Authors:  Ferran Celma Nos; Gonzalo Hernández; Xènia Ferrer-Cortès; Ines Hernandez-Rodriguez; Begoña Navarro-Almenzar; José Luis Fuster; Mar Bermúdez Cortés; Santiago Pérez-Montero; Cristian Tornador; Mayka Sanchez
Journal:  Int J Mol Sci       Date:  2021-05-21       Impact factor: 5.923
  2 in total

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