Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains

Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights

(2017) Sirawit Ittisoponpisan et al.   HUMAN MUTATION

The role of biophysical properties of provisional matrix proteins in wound repair

(2017) Daniel Chester et al.   MATRIX BIOLOGY

Tracing the peopling of the world through genomics

(2017) Rasmus Nielsen et al.   NATURE

Novel genes and mutations in patients affected by recurrent pregnancy loss

(2017) Paula Quintero-Ronderos et al.   PLoS One

Familial mutations in fibrinogen Aα (FGA) chain identified in renal amyloidosis increase in vitro amyloidogenicity of FGA fragment

(2016) Vishwanath Sivalingam et al.   BIOCHIMIE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders

(2016) Philippe de Moerloose et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Clinical Features and Management of Congenital Fibrinogen Deficiencies

(2016) Philippe de Moerloose et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

(2015) Giuseppina Di Fruscio et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature

(2015) A. Casini et al.   HAEMOPHILIA

A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration

(2015) Paul S. de Vries et al.   HUMAN MOLECULAR GENETICS

Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module

(2015) R. Asselta et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management

(2015) A. Casini et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Hepatic Fibrinogen Storage Disease in a Patient with Hypofibrinogenemia: Report of a Case with a Missense Mutation of the FGA Gene

(2015) Michael Lee et al.   SEMINARS IN LIVER DISEASE

Abnormal Fibrinogen Zlín (γThr21Ile) with Missense Mutation Causing Hypofibrinogenemia

(2014) Zuzana Riedelová-Reicheltová et al.   ACTA HAEMATOLOGICA

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

(2014) Ron Do et al.   NATURE

Mechanisms of fibrin polymerization and clinical implications

(2013) J. W. Weisel et al.   BLOOD

In silico tools for splicing defect prediction: a survey from the viewpoint of end users

(2013) Xueqiu Jian et al.   GENETICS IN MEDICINE

The Interaction of Integrin αIIbβ3with Fibrin Occurs through Multiple Binding Sites in the αIIbβ-Propeller Domain

(2013) Nataly P. Podolnikova et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Evolution of Factor V Leiden

(2013) Marcel Levi et al.   THROMBOSIS AND HAEMOSTASIS

Epidemiology and treatment of congenital fibrinogen deficiency

(2013) Flora Peyvandi   THROMBOSIS RESEARCH

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

C-Reactive Protein, Fibrinogen, and Cardiovascular Disease Prediction

(2012)   NEW ENGLAND JOURNAL OF MEDICINE

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

(2011) Stephanie Hicks et al.   HUMAN MUTATION

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Fibrinogen as a key regulator of inflammation in disease

(2011) Dimitrios Davalos et al.   Seminars in Immunopathology

The prognostic value of plasma fibrinogen levels in patients with endometrial cancer: a multi-centre trial

(2010) V Seebacher et al.   BRITISH JOURNAL OF CANCER

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Hereditary fibrinogen A  -chain amyloidosis: phenotypic characterization of a systemic disease and the role of liver transplantation

(2009) A. J. Stangou et al.   BLOOD

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Recommendations for nomenclature on fibrinogen and fibrin

(2008) L. MEDVED et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS