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Alessandra Pangrazio Selected Research

Osteopetrosis

10/2015Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
7/2014As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.
5/2013SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
1/2013Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.
12/2012Osteopetrosis rescue upon RANKL administration to Rankl(-/-) mice: a new therapy for human RANKL-dependent ARO.
9/2011Identification of the first deletion in the LRP5 gene in a patient with autosomal dominant osteopetrosis type I.
9/2009Osteopetrosis with micro-lacunar resorption because of defective integrin organization.
9/2008Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation.
8/2007Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
10/2005Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero.
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Alessandra Pangrazio Research Topics

Disease

12Osteopetrosis
10/2015 - 10/2003
1Bone Resorption
07/2014
1Bone Diseases (Bone Disease)
07/2014
1Rare Diseases (Rare Disease)
01/2013
1Inborn Genetic Diseases (Disease, Hereditary)
12/2012
1Agammaglobulinemia (Hypogammaglobulinemia)
07/2008
1Thrombocytopenia (Thrombopenia)
05/2007
1Failure to Thrive
05/2007
1Neurologic Manifestations (Neurological Manifestations)
05/2007
1Optic Atrophy
05/2007

Drug/Important Bio-Agent (IBA)

2LigandsIBA
05/2013 - 08/2007
2Proteins (Proteins, Gene)FDA Link
05/2013 - 09/2009
2beta-apocarotenoid-14',13'-dioxygenase (ADO)IBA
09/2011 - 10/2003
1Proton Pumps (Proton Pump)IBA
07/2014
1Sorting NexinsIBA
01/2013
1CytokinesIBA
01/2013
1IntegrinsIBA
09/2009
1Immunoglobulins (Immunoglobulin)IBA
07/2008
1Acid PhosphataseIBA
05/2007
1EnzymesIBA
05/2007
1U1 small nuclear RNAIBA
09/2004
1Chloride Channels (Chloride Channel)IBA
10/2003

Therapy/Procedure

2Therapeutics
10/2015 - 12/2012
2Hematopoietic Stem Cell Transplantation
12/2012 - 10/2005
1Bone Marrow Transplantation (Transplantation, Bone Marrow)
09/2008