M L Tenchini Selected Research

Fibrinogen (Factor I)

4/2007	Molecular genetics of quantitative fibrinogen disorders.
10/2006	The molecular basis of quantitative fibrinogen disorders.
4/2005	Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen vs. the ERSD-associated gamma-G284R mutant.
12/2001	Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs.
8/2001	Identification of four novel polymorphisms in the Aalpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein.
10/2000	Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation.
2/2000	Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion.

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M L Tenchini Research Topics

Disease

7	Afibrinogenemia (Fibrinogen Deficiency) 04/2007 - 02/2000
4	Factor V Deficiency 06/2003 - 12/2000
3	Hemorrhage 01/2006 - 02/2000
1	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 05/2007
1	Uniparental Disomy 10/2006
1	Thrombosis (Thrombus) 01/2006
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 04/2005
1	Cardiovascular Diseases (Cardiovascular Disease) 08/2001
1	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 07/2000

Drug/Important Bio-Agent (IBA)

7	Fibrinogen (Factor I)FDA Link 04/2007 - 02/2000
4	Factor V (Coagulation Factor V)IBA 06/2003 - 12/2000
3	Nonsense Codon (Nonsense Mutation)IBA 10/2006 - 09/2001
1	Member 1 Subfamily B ATP Binding Cassette TransporterIBA 05/2007
1	Peptides (Polypeptides)IBA 10/2006
1	Factor VIII (Coagulation Factor VIII)IBA 01/2006
1	AnticoagulantsIBA 01/2006
1	DNA (Deoxyribonucleic Acid)IBA 11/2005
1	AntigensIBA 04/2005
1	Proteins (Proteins, Gene)FDA Link 08/2001
1	Messenger RNA (mRNA)IBA 12/2000
1	fibrinopeptides gammaIBA 10/2000
1	Nicotinic Receptors (Nicotinic Acetylcholine Receptor)IBA 07/2000
1	fibrinogen AalphaIBA 02/2000
1	BBeta fibrinogenIBA 02/2000