Cristina Sobacchi Selected Research

Osteopetrosis

5/2022	Corrigendum to "Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene" [Bone 97. 2017 Apr:126-129. doi:10.1016/j.bone.2017.01.012.].
1/2021	Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis.
1/2019	Mesenchymal Stromal Cell-Seeded Biomimetic Scaffolds as a Factory of Soluble RANKL in Rankl-Deficient Osteopetrosis.
1/2019	One Disease, Many Genes: Implications for the Treatment of Osteopetroses.
1/2018	[Identification of new mutations in TCIRG1 as a cause of infantile malignant osteopetrosis in two Mexican patients].
1/2017	Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene.
1/2017	Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.
10/2015	Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
7/2014	As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.
5/2013	SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.

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Cristina Sobacchi Research Topics

Disease

18	Osteopetrosis 05/2022 - 10/2003
2	Neoplasms (Cancer) 01/2022 - 01/2019
2	Bone Resorption 01/2021 - 07/2014
2	Inflammation (Inflammations) 01/2019 - 01/2017
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2019 - 12/2012
2	Rare Diseases (Rare Disease) 01/2013 - 12/2007
1	Osteoporosis 06/2022
1	Postmenopausal Osteoporosis 06/2022
1	Neoplasm Metastasis (Metastasis) 01/2019
1	Osteopetrosis lethal 01/2018
1	Traumatic Brain Injuries (Traumatic Brain Injury) 01/2017
1	Neuroinflammatory Diseases 01/2017
1	Chronic Hepatitis B 01/2016
1	Sclerosing Cholangitis 01/2016
1	Biliary Liver Cirrhosis (Primary Biliary Cirrhosis) 01/2016
1	Autoimmune Hepatitis 01/2016
1	Bone Diseases (Bone Disease) 07/2014
1	Agammaglobulinemia (Hypogammaglobulinemia) 07/2008
1	Genomic Instability 04/2005

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 01/2021 - 05/2013
2	Denosumab FDA Link 06/2022 - 01/2019
2	LigandsIBA 05/2013 - 08/2007
2	beta-apocarotenoid-14',13'-dioxygenase (ADO)IBA 09/2011 - 10/2003
1	Complement System Proteins (Complement)IBA 01/2019
1	Phosphorus (Red Phosphorus)IBA 01/2018
1	CalciumIBA 01/2018
1	ChemokinesIBA 01/2017
1	Chemokine ReceptorsIBA 01/2017
1	CC ChemokinesIBA 01/2017
1	Scavenger Receptors (Scavenger Receptor)IBA 01/2017
1	Transcription Factors (Transcription Factor)IBA 01/2016
1	OsteoprotegerinIBA 01/2016
1	NF-kappa B (NF-kB)IBA 01/2016
1	Proton Pumps (Proton Pump)IBA 07/2014
1	Sorting NexinsIBA 01/2013
1	CytokinesIBA 01/2013
1	Immunoglobulins (Immunoglobulin)IBA 07/2008
1	Mitomycin (Mitomycin-C)FDA LinkGeneric 04/2005
1	U1 small nuclear RNAIBA 09/2004
1	Chloride Channels (Chloride Channel)IBA 10/2003

Therapy/Procedure

7	Therapeutics 01/2022 - 12/2007
6	Hematopoietic Stem Cell Transplantation 05/2022 - 10/2005
2	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/2019 - 09/2008