Literature DB >> 16615976

Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg-->Trp gene mutation.

Paola Francalanci1, Filippo M Santorelli, Ilaria Talini, Renata Boldrini, Rita Devito, Francesca Diomedi Camassei, Giuseppe Maggiore, Francesco Callea.   

Abstract

We report hypofibrinogenemia and massive hepatic storage of fibrinogen in a child with cryptogenic chronic liver disease. Fibrinogen gene analysis revealed a de novo Aguadilla (c.1201C>T; p.Arg375Trp) mutation. This mutation should be considered in childhood hypofibrinogenemia associated with chronic liver disease.

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Year:  2006        PMID： 16615976     DOI： 10.1016/j.jpeds.2005.10.007

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  10 in total

1.  The fibrous form of intracellular inclusion bodies in recombinant variant fibrinogen-producing cells is specific to the hepatic fibrinogen storage disease-inducible variant fibrinogen.

Authors:  Shinpei Arai; Naoko Ogiwara; Saki Mukai; Yuka Takezawa; Mitsutoshi Sugano; Takayuki Honda; Nobuo Okumura
Journal:  Int J Hematol       Date:  2017-02-04       Impact factor: 2.490

2.  High prevalence of dysfibrinogenemia among patients with chronic thromboembolic pulmonary hypertension.

Authors:  Timothy A Morris; James J Marsh; Peter G Chiles; Marisa M Magaña; Ni-Cheng Liang; Xavier Soler; Daniel J Desantis; Debby Ngo; Virgil L Woods
Journal:  Blood       Date:  2009-05-06       Impact factor: 22.113

3.  Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy.

Authors:  Marzia Bianchi; Teresa Rizza; Daniela Verrigni; Diego Martinelli; Giulia Tozzi; Alessandra Torraco; Fiorella Piemonte; Carlo Dionisi-Vici; Valerio Nobili; Paola Francalanci; Renata Boldrini; Francesco Callea; Filippo Maria Santorelli; Enrico Bertini; Rosalba Carrozzo
Journal:  Biochem Biophys Res Commun       Date:  2011-10-18       Impact factor: 3.575

Review 4.  Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases.

Authors:  Francesco Callea; Paola Francalanci; Isabella Giovannoni
Journal:  Int J Mol Sci       Date:  2021-05-28       Impact factor: 5.923

5.  Hepatic fibrinogen storage disease due to the fibrinogen γ375 Arg → Trp mutation "fibrinogen Aguadilla" is present in Arabs.

Authors:  Abdulrahman Al-Hussaini; Abdulhadi Altalhi; Imad El Hag; Hussa AlHussaini; Paola Francalanci; Isabella Giovannoni; Francesco Callea
Journal:  Saudi J Gastroenterol       Date:  2014 Jul-Aug       Impact factor: 2.485

6.  Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: Incomplete response to carbamazepine and ursodeoxycholic acid.

Authors:  Mei-Hong Zhang; A S Knisely; Neng-Li Wang; Jing-Yu Gong; Jian-She Wang
Journal:  BMC Gastroenterol       Date:  2016-08-12       Impact factor: 3.067

7.  Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage.

Authors:  Francesco Callea; Isabella Giovannoni; Sinan Sari; Esendagli Guldal; Buket Dalgic; Gulen Akyol; Tsuyoshi Sogo; Abdulrahman Al-Hussaini; Giuseppe Maggiore; Andrea Bartuli; Renata Boldrini; Paola Francalanci; Emanuele Bellacchio
Journal:  Int J Mol Sci       Date:  2017-12-15       Impact factor: 5.923

8.  Hepatic fibrinogen storage disease and hypofibrinogenemia caused by fibrinogen Aguadilla mutation: a case report.

Authors:  Leilei Gu; Bin Wang; Lu Liu; Qiaorong Gan; Xiaolong Liu; Lihong Chen; Li Chen
Journal:  J Int Med Res       Date:  2020-01       Impact factor: 1.671

Review 9.  Hereditary Hypofibrinogenemia with Hepatic Storage.

Authors:  Rosanna Asselta; Elvezia Maria Paraboschi; Stefano Duga
Journal:  Int J Mol Sci       Date:  2020-10-22       Impact factor: 5.923

10.  Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism.

Authors:  Guven Burcu; Emanuele Bellacchio; Elif Sag; Alper Han Cebi; Ismail Saygin; Aysenur Bahadir; Guldal Yilmaz; Marialuisa Corbeddu; Murat Cakir; Francesco Callea
Journal:  Int J Mol Sci       Date:  2020-07-20       Impact factor: 5.923
  10 in total

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