CNR Institutional Research Information System

SOBACCHI, CRISTINA
 Distribuzione geografica
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Continente #
NA - Nord America 187
AS - Asia 125
EU - Europa 77
Totale 389
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Nazione #
US - Stati Uniti d'America 187
SG - Singapore 112
IT - Italia 44
FI - Finlandia 15
CN - Cina 6
DE - Germania 6
KR - Corea 6
NL - Olanda 5
FR - Francia 3
AT - Austria 2
GB - Regno Unito 1
HK - Hong Kong 1
IE - Irlanda 1
Totale 389
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Città #
Santa Clara 162
Singapore 92
Helsinki 15
Milan 12
Assemini 7
Rome 6
Seoul 6
Falkenstein 5
Pisa 5
Guangzhou 4
Messina 3
Amsterdam 2
Como 2
Vienna 2
Arezzo 1
Ashburn 1
Aulnay-sous-Bois 1
Dublin 1
Forest City 1
Frankfurt am Main 1
Hong Kong 1
Lusia 1
Montecatini Terme 1
Paris 1
Seattle 1
Totale 334
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Nome #
Correction of osteopetrosis in the neonate oc/oc murine model after lentiviral vector gene therapy and non-genotoxic conditioning 28
Fingerprint multiplex CARS at high speed based on supercontinuum generation in bulk media and deep learning spectral denoising 26
TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. 15
null 12
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations 12
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived from Structural and Functional Analysis of 14 ClC-7 Mutants 11
PBX1: a TALE of two seasons—key roles during development and in cancer 11
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. 11
A recessive contiguous gene deletion in chromosome16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient. 10
As little as needed: The extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene 10
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis 10
Rankl genetic deficiency and functional blockade undermine skeletal stem and progenitor cell differentiation 10
Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation. 9
Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosis 9
A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects 9
Label-free multimodal nonlinear optical microscopy reveals features of bone composition in pathophysiological conditions 8
Absence of Dipeptidyl Peptidase 3 Increases Oxidative Stress and Causes Bone Loss 8
Osteopetrosis rescue upon RANKL administration to Rankl -/- mice: A new therapy for human RANKL-dependent ARO 8
Direct effects of octreotide on osteoblast cell proliferation and function 8
3D cocultures of osteoblasts and staphylococcus aureus on biomimetic bone scaffolds as a tool to investigate the host-pathogen interface in osteomyelitis 7
IL-10 Critically Modulates B Cell Responsiveness in Rankl(-/-) Mice 7
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity 7
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis 7
Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients. 7
Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene 7
Bone Marrow Niches and Tumour Cells: Lights and Shadows of a Mutual Relationship 7
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.] (Bone (2017) 97 (126–129), (S8756328217300121), (10.1016/j.bone.2017.01.012)) 6
The RANKL-RANK axis: A bone to thymus round trip 6
2.Mégarbané A, Pangrazio A, Villa A, Chouery E, Maarawi J, Sabbagh S, Lefranc G, Sobacchi C. Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia. 6
Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications 6
3D bone biomimetic scaffolds for basic and translational studies with mesenchymal stem cells 6
One disease, many genes: Implications for the treatment of osteopetroses 6
Damaging-agent sensitivity of Artemis-deficient cell lines. 6
RANKL Cytokine: From Pioneer of the Osteoimmunology Era to Cure for a Rare Disease. 6
The Dissection of Human Autosomal Recessive Osteopetrosis Identifies an Osteoclast-Poor Form due to RANKL Deficiency. 6
Bone responses to biomaterials 6
Genetic Deficiency of the Long Pentraxin 3 Affects Osteogenesis and Osteoclastogenesis in Homeostatic and Inflammatory Conditions 6
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. 6
Targeted gene correction in osteopetrotic-induced pluripotent stem cells for the generation of functional osteoclasts 6
Birefringence-induced phase delay enables Brillouin mechanical imaging in turbid media 6
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. 6
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene. 5
Defects in the TCIRG1-encoded 116kD subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. 5
Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis. 5
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis 5
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis. 5
Murine Rankl-/- Mesenchymal Stromal Cells Display an Osteogenic Differentiation Defect Improved by a RANKL-Expressing Lentiviral Vector 5
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency 5
Defect of regulatory T cells in patients with Omenn syndrome. 5
Genetics of Osteopetrosis 5
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1 5
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene. 5
RANK-dependent autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations. 4
Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero. 4
Autosomal recessive osteopetrosis type I: description of pathogenic variant of TCIRG1 gene. 4
Of Omenn and mice. Trends Immunol. 29:133-140, 2008. 4
Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus. 3
Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor. 3
RAG-dependent primary immunodeficiencies 3
Soluble Factors on Stage to Direct Mesenchymal Stem Cells Fate. 3
Molecular Regulation of Bone Turnover in Juvenile Idiopathic Arthritis: Animal Models, Cellular Features and TNFα 2
Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: A single-center experience 2
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia 2
Osteopetrosis: genetics, treatment and new insights into osteoclast function. 2
TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA 2
Osteopetrosis 2
A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient 2
Diagnosi molecolare di malattie genetiche 2
Interleukin-1β Polymorphisms Are Genetic Markers of Susceptibility to Periprosthetic Joint Infection in Total Hip and Knee Arthroplasty 2
Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I 2
Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations. 2
Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis 2
Osteopetrosis: Genetics, treatment and new insights into osteoclast function 2
Quantitation of the Rank-Rankl Axis in Primary Biliary Cholangitis. 2
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease 2
Role of RANKL Signaling in Bone Homeostasis 2
Dipeptidyl Peptidase 3 Activity as a Promising Biomarker of Bone Fragility in Postmenopausal Women 1
The osteoblast secretome in Staphylococcus aureus osteomyelitis 1
Editorial: Innate Immunity in the Context of Osteoimmunology 1
The mutational spectrum of human malignant autosomal recessive osteopetrosis 1
Osteoclast-poor osteopetrosis 1
Association between a Polymorphism Affecting an AP1 Binding Site in the Promoter of the TCIRG1 Gene and Bone Mass in Women 1
Therapeutic approaches to osteopetrosis 1
Editorial: Regulation of osteoclast differentiation in autoimmune and inflammatory diseases 1
Modulation of NBAS-Related Functions in the Early Response to SARS-CoV-2 Infection 1
The role of WNT and IL-1 signaling in osteoarthritis: therapeutic implications for platelet-rich plasma therapy 1
The direct impact of pegvisomant on osteoblast functions and bone development 1
Totale 490
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Categoria #
all - tutte 1.993
article - articoli 1.954
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 24
Totale 3.971
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202428 0 0 0 0 0 0 0 0 4 3 17 4
2024/2025462 8 8 100 30 201 115 0 0 0 0 0 0
Totale 490