Literature DB >> 35809153

The unsolved mystery of MEFV variants variable expressivity in Familial Mediterranean Fever.

Alessandro Stella1, Piero Portincasa2.   

Abstract

Entities:  

Keywords:  Environmental factors; FMF genetic modulators; FMF variability; Inflammasome activation; Late onset FMF; MEFV variants penetrance

Mesh：

Substances：

Year:  2022        PMID： 35809153     DOI： 10.1007/s11739-022-03027-4

Source DB:  PubMed          Journal:  Intern Emerg Med        ISSN： 1828-0447            Impact factor:   5.472


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  36 in total

1.  Genotype-phenotype correlation in FMF patients: A "non classic" recessive autosomal or "atypical" dominant autosomal inheritance?

Authors:  V Procopio; S Manti; G Bianco; G Conti; A Romeo; F Maimone; T Arrigo; M C Cutrupi; C Salpietro; C Cuppari
Journal:  Gene       Date:  2017-11-06       Impact factor: 3.688

Review 2.  Familial mediterranean Fever in the world.

Authors:  Eldad Ben-Chetrit; Isabelle Touitou
Journal:  Arthritis Rheum       Date:  2009-10-15

Review 3.  Familial mediterranean fever: a fascinating model of inherited autoinflammatory disorder.

Authors:  Piero Portincasa; Giuseppe Scaccianoce; Giuseppe Palasciano
Journal:  Eur J Clin Invest       Date:  2013-10-14       Impact factor: 4.686

4.  Three Japanese patients (mother and two children) with familial Mediterranean fever associated with compound heterozygosity for L110P/E148Q/M694I and an autosomal true dominant inheritance pattern.

Authors:  Yasutsugu Fukushima; Kazuki Obara; Hirokuni Hirata; Kumiya Sugiyama; Takeshi Fukuda; Kazuhiko Takabe
Journal:  Asian Pac J Allergy Immunol       Date:  2013-12       Impact factor: 2.310

5.  Familial Mediterranean fever: breaking all the (genetic) rules.

Authors:  Alessandro Stella; Fabiana Cortellessa; Giuseppe Scaccianoce; Barbara Pivetta; Enrica Settimo; Piero Portincasa
Journal:  Rheumatology (Oxford)       Date:  2019-03-01       Impact factor: 7.580

6.  Comorbidities in familial Mediterranean fever: analysis of 2000 genetically confirmed patients.

Authors:  Banu Balcı-Peynircioğlu; Ümmüşen Kaya-Akça; Zehra Serap Arıcı; Edibe Avcı; Z Yeliz Akkaya-Ulum; Ömer Karadağ; Umut Kalyoncu; Yelda Bilginer; Engin Yılmaz; Seza Özen
Journal:  Rheumatology (Oxford)       Date:  2020-06-01       Impact factor: 7.580

7.  Criteria for the diagnosis of familial Mediterranean fever.

Authors:  A Livneh; P Langevitz; D Zemer; N Zaks; S Kees; T Lidar; A Migdal; S Padeh; M Pras
Journal:  Arthritis Rheum       Date:  1997-10

8.  Amyloidosis and its related factors in Turkish patients with familial Mediterranean fever: a multicentre study.

Authors:  Timucin Kasifoglu; Sule Yasar Bilge; Ismail Sari; Dilek Solmaz; Soner Senel; Hakan Emmungil; Levent Kilic; Sibel Yilmaz Oner; Fatih Yildiz; Sedat Yilmaz; Duygu Ersozlu Bakirli; Muge Aydin Tufan; Sema Yilmaz; Veli Yazisiz; Yavuz Pehlivan; Cemal Bes; Gozde Yildirim Cetin; Sukran Erten; Emel Gonullu; Tuncer Temel; Fezan Sahin; Servet Akar; Kenan Aksu; Umut Kalyoncu; Haner Direskeneli; Eren Erken; Bunyamin Kisacik; Mehmet Sayarlioglu; Cengiz Korkmaz
Journal:  Rheumatology (Oxford)       Date:  2013-12-24       Impact factor: 7.580

9.  MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.

Authors:  Monique Stoffels; Agata Szperl; Anna Simon; Mihai G Netea; Theo S Plantinga; Marcel van Deuren; Sylvia Kamphuis; Helen J Lachmann; Edwin Cuppen; Wigard P Kloosterman; Joost Frenkel; Cleo C van Diemen; Cisca Wijmenga; Marielle van Gijn; Jos W M van der Meer
Journal:  Ann Rheum Dis       Date:  2013-03-16       Impact factor: 19.103

10.  British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature.

Authors:  Dorota M Rowczenio; Taryn Youngstein; Hadija Trojer; Ebun Omoyinmi; Anna Baginska; Paul Brogan; Charalampia Papadopoulou; Tamer Rezk; Philip N Hawkins; Helen J Lachmann
Journal:  Rheumatology (Oxford)       Date:  2020-03-01       Impact factor: 7.580
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