Literature DB >> 18305351

ABCC6 is unlikely to be a modifier gene for familial Mediterranean fever severity.

N Chassaing1, I Touitou, D Cattan, P Calvas.   

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Year:  2007        PMID： 18305351     DOI： 10.1007/s12041-007-0040-9

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  15 in total

1.  Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.

Authors:  I Mansour; V Delague; C Cazeneuve; C Dodé; E Chouery; C Pêcheux; M Medlej-Hashim; N Salem; L El Zein; I Levan-Petit; G Lefranc; M Goossens; M Delpech; S Amselem; J Loiselet; G Grateau; A Mégarbane; R Naman
Journal:  Eur J Hum Genet       Date:  2001-01       Impact factor: 4.246

2.  Overproduction of perlecan core protein in cultured cells and transgenic mice.

Authors:  M Hart; L Li; T Tokunaga; J R Lindsey; J R Hassell; A D Snow; K Fukuchi
Journal:  J Pathol       Date:  2001-06       Impact factor: 7.996

Review 3.  Familial Mediterranean fever. A survey of 470 cases and review of the literature.

Authors:  E Sohar; J Gafni; M Pras; H Heller
Journal:  Am J Med       Date:  1967-08       Impact factor: 4.965

4.  Familial Mediterranean fever: effects of genotype and ethnicity on inflammatory attacks and amyloidosis.

Authors:  A Mimouni; N Magal; N Stoffman; T Shohat; A Minasian; M Krasnov; G J Halpern; J I Rotter; N Fischel-Ghodsian; Y L Danon; M Shohat
Journal:  Pediatrics       Date:  2000-05       Impact factor: 7.124

5.  Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.

Authors: 
Journal:  Cell       Date:  1997-08-22       Impact factor: 41.582

6.  Early and severe amyloidosis in a patient with concurrent familial Mediterranean fever and pseudoxanthoma elasticum.

Authors:  D Cattan; B Bouali; N Chassaing; F Martinez; J M Dupont; C Dode; L Martin
Journal:  Br J Dermatol       Date:  2006-06       Impact factor: 9.302

7.  Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.

Authors:  C Cazeneuve; H Ajrapetyan; S Papin; F Roudot-Thoraval; D Geneviève; E Mndjoyan; M Papazian; A Sarkisian; A Babloyan; B Boissier; P Duquesnoy; J C Kouyoumdjian; E Girodon-Boulandet; G Grateau; T Sarkisian; S Amselem
Journal:  Am J Hum Genet       Date:  2000-10-03       Impact factor: 11.025

Review 8.  Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.

Authors:  N Chassaing; L Martin; P Calvas; M Le Bert; A Hovnanian
Journal:  J Med Genet       Date:  2005-05-13       Impact factor: 6.318

9.  Anomalous structure of urinary glycosaminoglycans in patients with pseudoxanthoma elasticum.

Authors:  Francesca Maccari; Dealba Gheduzzi; Nicola Volpi
Journal:  Clin Chem       Date:  2003-03       Impact factor: 8.327

10.  Association of drug transporter gene ABCB1 (MDR1) 3435C to T polymorphism with colchicine response in familial Mediterranean fever.

Authors:  Abdurrahman Tufan; Melih O Babaoglu; Ali Akdogan; Umit Yasar; Meral Calguneri; Umut Kalyoncu; Omer Karadag; Mutlu Hayran; A Ihsan Ertenli; Atila Bozkurt; Sedat Kiraz
Journal:  J Rheumatol       Date:  2007-06-15       Impact factor: 4.666
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  1 in total

Review 1.  The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders.

Authors:  Eva Y G De Vilder; Mohammad Jakir Hosen; Olivier M Vanakker
Journal:  Biomed Res Int       Date:  2015-08-18       Impact factor: 3.411
  1 in total

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