Cristina Sobacchi

Cristina Sobacchi

UNVERIFIED PROFILE

Are you Cristina Sobacchi?   Register this Author

Register author
Cristina Sobacchi

Cristina Sobacchi

Publications by authors named "Cristina Sobacchi"

Are you Cristina Sobacchi?   Register this Author

52Publications

961Reads

25Profile Views

Absence of Dipeptidyl Peptidase 3 Increases Oxidative Stress and Causes Bone Loss.

J Bone Miner Res 2019 Nov 9;34(11):2133-2148. Epub 2019 Sep 9.

Consiglio Nazionale delle Ricerche-Istituto di Ricerca Genetica e Biomedica (CNR-IRGB), Milan Unit, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.3829DOI Listing
November 2019

The Long Pentraxin PTX3 in Bone Homeostasis and Pathology.

Front Immunol 2019 8;10:2628. Epub 2019 Nov 8.

Department of Immunology and Inflammation, Humanitas Clinical and Research Institute - IRCCS, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fimmu.2019.02628DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856142PMC
November 2019

Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.

Stem Cell Res 2019 Nov 20;42:101660. Epub 2019 Nov 20.

A. Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.scr.2019.101660DOI Listing
November 2019

[Identification of new mutations in TCIRG1 as a cause of infantile malignant osteopetrosis in two Mexican patients].

Rev Alerg Mex 2018 Jan-Mar;65(1):108-116

Secretaría de Salud, Instituto Nacional de Pediatría, Unidad de Investigación en Inmunodeficiencias, Ciudad de México, México.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.29262/ram.v65i1.314DOI Listing
October 2019

Autosomal recessive osteopetrosis type I: description of pathogenic variant of TCIRG1 gene.

Bol Med Hosp Infant Mex 2018 ;75(4):255-259

Hospital de Especialidades 14, Instituto Mexicano del Seguro Social, Veracruz, Veracruz, Mexico.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.24875/BMHIM.M18000028DOI Listing
August 2019

The RANKL-RANK Axis: A Bone to Thymus Round Trip.

Front Immunol 2019 29;10:629. Epub 2019 Mar 29.

Milan Unit, Institute for Genetic and Biomedical Research (CNR-IRGB), Milan, Italy.

View Article

Download full-text PDF

Source
https://www.frontiersin.org/article/10.3389/fimmu.2019.00629
Publisher Site
http://dx.doi.org/10.3389/fimmu.2019.00629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450200PMC
March 2019

One Disease, Many Genes: Implications for the Treatment of Osteopetroses.

Front Endocrinol (Lausanne) 2019 19;10:85. Epub 2019 Feb 19.

San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), San Raffaele Hospital, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fendo.2019.00085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389615PMC
February 2019

3D Bone Biomimetic Scaffolds for Basic and Translational Studies with Mesenchymal Stem Cells.

Int J Mol Sci 2018 Oct 13;19(10). Epub 2018 Oct 13.

CNR-IRGB, Milan Unit, via Fantoli 16/15, 20138 Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms19103150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6213614PMC
October 2018

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.

Bone 2018 09 19;114:125-136. Epub 2018 Jun 19.

Humanitas Clinical and Research Institute, via Manzoni 113, 20089 Rozzano, Italy; CNR-IRGB, Milan Unit, via Fantoli 16/15, 20138 Milan, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2018.06.013DOI Listing
September 2018

Genetics of Osteopetrosis.

Curr Osteoporos Rep 2018 02;16(1):13-25

Humanitas Clinical and Research Institute, via Manzoni 113, 20089, Rozzano, MI, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11914-018-0415-2DOI Listing
February 2018

Soluble Factors on Stage to Direct Mesenchymal Stem Cells Fate.

Front Bioeng Biotechnol 2017 17;5:32. Epub 2017 May 17.

Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche (CNR), Milan Unit, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fbioe.2017.00032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5434159PMC
May 2017

Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene.

Bone 2017 04 14;97:126-129. Epub 2017 Jan 14.

Humanitas Clinical and Research Institute, Rozzano, Italy; CNR-IRGB, Milan Unit, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2017.01.012DOI Listing
April 2017

Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.

J Bone Miner Res 2017 01 7;32(1):99-105. Epub 2016 Sep 7.

Humanitas Clinical and Research Institute, Rozzano, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.2929DOI Listing
January 2017

IL-10 critically modulates B cell responsiveness in Rankl-/- mice.

J Immunol 2015 May 30;194(9):4144-53. Epub 2015 Mar 30.

Istituto di Ricerca Genetica e Biomedica, Unità Operativa di Milano, Consiglio Nazionale delle Richerche, 20138 Milan, Italy; Humanitas Clinical and Research Center, 20089 Rozzano, Italy;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4049/jimmunol.1401977DOI Listing
May 2015

The endocrine role of the skeleton.

Int J Endocrinol 2015 2;2015:265151. Epub 2015 Apr 2.

Bambino Gesù Children's Hospital, 00146 Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2015/265151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4387909PMC
April 2015

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia.

Bone 2014 Nov 30;68:142-5. Epub 2014 Aug 30.

Département d'Endocrinologie, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon; Institut Jérôme Lejeune, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2014.08.014DOI Listing
November 2014

As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.

J Bone Miner Res 2014 Jul;29(7):1646-50

Unitá Operativa di Supporto (UOS)/Institute of Genetic and Biomedical Research (IRGB), Milan Unit, National Research Council (CNR), Milan, Italy; Humanitas Clinical and Research Center, Rozzano, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.2203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4258090PMC
July 2014

Osteopetrosis: genetics, treatment and new insights into osteoclast function.

Nat Rev Endocrinol 2013 Sep 23;9(9):522-36. Epub 2013 Jul 23.

Unit Of Support/Institute of Genetic and Biomedical Research, Milan Unit, National Research Council, Humanitas Clinical and Research Centre, Via Manzoni 113, 20089 Rozzano, Italy.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/nrendo.2013.137
Publisher Site
http://dx.doi.org/10.1038/nrendo.2013.137DOI Listing
September 2013

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.

Eur J Med Genet 2013 Jan 31;56(1):32-5. Epub 2012 Oct 31.

Unité de Génétique Médicale et laboratoire associé INSERM à l'Unité UMR_S 910, Pôle Technologie Santé, Université Saint-Joseph, Beirut, Lebanon.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2012.10.010DOI Listing
January 2013

Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus.

Am J Med Genet A 2011 May 4;155A(5):1106-8. Epub 2011 Apr 4.

Sezione di Genetica Medica, Azienda Ospedaliera e Università di Perugia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33826DOI Listing
May 2011

Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor.

Calcif Tissue Int 2009 Jan 12;84(1):1-12. Epub 2008 Dec 12.

Istituto di Tecnologie Biomediche, CNR, via Cervi 93, Segrate, Italy.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00223-008-9196-4
Publisher Site
http://dx.doi.org/10.1007/s00223-008-9196-4DOI Listing
January 2009

Of Omenn and mice.

Trends Immunol 2008 Mar 5;29(3):133-40. Epub 2008 Feb 5.

CNR-Istituto Tecnologie Biomediche Segrate, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.it.2007.12.001DOI Listing
March 2008

The Dissection of Human Autosomal Recessive Osteopetrosis Identifies an Osteoclast-Poor Form due to RANKL Deficiency.

Cell Cycle 2007 Dec 30;6(24):3027-3033. Epub 2007 Sep 30.

Department of Human Genome, Institute of Biomedical Technologies, Milan, Italy; Istituto Clinico Humanitas, Rozzano, Italy.

View Article

Download full-text PDF

Source
http://www.tandfonline.com/doi/abs/10.4161/cc.6.24.5105
Publisher Site
http://dx.doi.org/10.4161/cc.6.24.5105DOI Listing
December 2007

RAG-dependent primary immunodeficiencies.

Hum Mutat 2006 Dec;27(12):1174-84

Istituto di Tecnologie Biomediche, Segrate, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.20408DOI Listing
December 2006