Literature DB >> 28673429

A novel fibrinogen gamma chain mutation (c.1096C>G; p.His340Asp), fibrinogen Ankara, causing hypofibrinogenaemia and hepatic storage.

Francesco Callea1, Isabella Giovannoni2, Sinan Sari3, Aysel Unlusoy Aksu3, Guldal Esendagly4, Buket Dalgic3, Renata Boldrini2, Gulen Akyol4, Paola Francalanci2, Emanuele Bellacchio5.   

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Year:  2017        PMID： 28673429     DOI： 10.1016/j.pathol.2017.03.007

Source DB:  PubMed          Journal:  Pathology        ISSN： 0031-3025            Impact factor:   5.306


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  9 in total

Review 1.  Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders.

Authors:  Giovanni Luca Tiscia; Maurizio Margaglione
Journal:  Int J Mol Sci       Date:  2018-05-29       Impact factor: 5.923

Review 2.  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

Review 3.  The Recruitment-Secretory Block ("R-SB") Phenomenon and Endoplasmic Reticulum Storage Diseases.

Authors:  Francesco Callea; Paolo Tomà; Emanuele Bellacchio
Journal:  Int J Mol Sci       Date:  2021-06-24       Impact factor: 5.923

4.  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

5.  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 6.  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

7.  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

Review 8.  The Discovery of Endoplasmic Reticulum Storage Disease. The Connection between an H&E Slide and the Brain.

Authors:  Francesco Callea; Valeer Desmet
Journal:  Int J Mol Sci       Date:  2021-03-12       Impact factor: 5.923

Review 9.  Protein Aggregation in the ER: Calm behind the Storm.

Authors:  Haisen Li; Shengyi Sun
Journal:  Cells       Date:  2021-11-28       Impact factor: 7.666
  9 in total

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