CNR Institutional Research Information System

VILLA, ANNA
 Distribuzione geografica
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Continente #
AS - Asia 2.966
NA - Nord America 1.516
EU - Europa 686
SA - Sud America 512
AF - Africa 52
OC - Oceania 3
AN - Antartide 1
Continente sconosciuto - Info sul continente non disponibili 1
Totale 5.737
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Nazione #
US - Stati Uniti d'America 1.434
SG - Singapore 1.238
CN - Cina 737
BR - Brasile 420
HK - Hong Kong 296
VN - Vietnam 257
IT - Italia 172
FR - Francia 161
KR - Corea 150
GB - Regno Unito 74
JP - Giappone 57
NL - Olanda 57
DE - Germania 56
IN - India 52
BD - Bangladesh 43
CA - Canada 41
FI - Finlandia 40
AR - Argentina 28
MX - Messico 25
EC - Ecuador 22
ZA - Sudafrica 21
PL - Polonia 19
IL - Israele 17
IQ - Iraq 17
ID - Indonesia 16
ES - Italia 15
CO - Colombia 13
SE - Svezia 13
UZ - Uzbekistan 13
TR - Turchia 12
PY - Paraguay 11
PK - Pakistan 10
PH - Filippine 8
AT - Austria 7
EG - Egitto 7
RU - Federazione Russa 7
UA - Ucraina 7
AL - Albania 6
LT - Lituania 6
SA - Arabia Saudita 6
VE - Venezuela 6
BE - Belgio 5
CZ - Repubblica Ceca 5
IE - Irlanda 5
LB - Libano 5
MA - Marocco 5
CL - Cile 4
DO - Repubblica Dominicana 4
KE - Kenya 4
PE - Perù 4
AE - Emirati Arabi Uniti 3
AZ - Azerbaigian 3
BY - Bielorussia 3
HR - Croazia 3
HU - Ungheria 3
JM - Giamaica 3
JO - Giordania 3
NP - Nepal 3
PT - Portogallo 3
RO - Romania 3
SK - Slovacchia (Repubblica Slovacca) 3
TH - Thailandia 3
TN - Tunisia 3
TT - Trinidad e Tobago 3
AM - Armenia 2
CH - Svizzera 2
CI - Costa d'Avorio 2
DK - Danimarca 2
DZ - Algeria 2
HN - Honduras 2
KG - Kirghizistan 2
KZ - Kazakistan 2
MD - Moldavia 2
MM - Myanmar 2
MU - Mauritius 2
MY - Malesia 2
PS - Palestinian Territory 2
TW - Taiwan 2
AO - Angola 1
AQ - Antartide 1
AU - Australia 1
BA - Bosnia-Erzegovina 1
BN - Brunei Darussalam 1
BO - Bolivia 1
CD - Congo 1
DJ - Gibuti 1
EE - Estonia 1
ET - Etiopia 1
GR - Grecia 1
GY - Guiana 1
IR - Iran 1
LU - Lussemburgo 1
LV - Lettonia 1
MG - Madagascar 1
NC - Nuova Caledonia 1
NI - Nicaragua 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PA - Panama 1
PR - Porto Rico 1
Totale 5.730
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Città #
Singapore 706
Santa Clara 323
Hefei 317
Hong Kong 293
San Jose 187
Ashburn 168
Beijing 162
Seoul 144
Lauterbourg 129
Los Angeles 117
Ho Chi Minh City 93
Hanoi 55
New York 54
Dallas 51
Milan 45
Tokyo 36
São Paulo 24
Orem 23
Frankfurt am Main 20
Chennai 18
Helsinki 18
Minamishinagawa 18
Warsaw 18
Montreal 16
Rio de Janeiro 16
Belo Horizonte 15
Buffalo 15
Denver 15
London 15
Curitiba 13
Munich 13
Amsterdam 12
Brasília 12
Johannesburg 12
Mexico City 12
Stockholm 12
Tashkent 12
Turku 12
Da Nang 11
Houston 11
Bengaluru 10
City of London 10
Düsseldorf 10
Haiphong 10
Lappeenranta 10
Rome 10
Atlanta 9
Brooklyn 9
Guangzhou 9
Phoenix 9
Poplar 9
Assemini 8
Biên Hòa 8
Guayaquil 8
Thái Nguyên 8
Vũng Tàu 8
Chicago 7
Hyderabad 7
Portsmouth 7
Quito 7
Toronto 7
Bắc Giang 6
Florence 6
Naples 6
Vienna 6
Boston 5
Brussels 5
Charlotte 5
Council Bluffs 5
Dublin 5
Madrid 5
Miami 5
Mumbai 5
Nuremberg 5
Osasco 5
Porto Alegre 5
Recife 5
Tirana 5
Asunción 4
Cairo 4
Campinas 4
Can Tho 4
Duque de Caxias 4
Erbil 4
Fortaleza 4
Guarulhos 4
Hải Dương 4
Jakarta 4
Lahore 4
Lima 4
Manchester 4
Messina 4
Minerbe 4
Pisa 4
Queens 4
Quảng Ngãi 4
Thái Bình 4
Amman 3
Baghdad 3
Baku 3
Totale 3.597
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Nome #
B lymphocytes limit senescence-driven fibrosis resolution and favor hepatocarcinogenesis in mouse liver injury. 106
A p38 MAPK-ROS axis fuels proliferation stress and DNA damage during CRISPR-Cas9 gene editing in hematopoietic stem and progenitor cells 104
Expanded circulating hematopoietic stem/ progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis 103
Intestinal microbiota sustains inflammation and autoimmunity induced by hypomorphic RAG defects 99
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived from Structural and Functional Analysis of 14 ClC-7 Mutants 95
Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome. 93
Hypomorphic mutation in the RAG2 gene affects dendritic cell distribution and migration. 93
Preclinical modeling highlights the therapeutic potential of hematopoietic stem cell gene editing for correction of SCID-X1 81
Correction of osteopetrosis in the neonate oc/oc murine model after lentiviral vector gene therapy and non-genotoxic conditioning 81
A standardized protocol for assessing immunodeficiency in mouse models 76
MicroRNA-127-3p controls murine hematopoietic stem cell maintenance by limiting differentiation 75
A pre-screening FISH-based method to detect CRISPR/Cas9 off-targets in mouse embryonic stem cells 68
Autosomal recessive osteopetrosis: Mechanisms and treatments 66
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)) 64
Chromosome Transplantation: Correction of the Chronic Granulomatous Disease Defect in Mouse Induced Pluripotent Stem Cells 64
Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations 64
Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications 62
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene. 61
Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosis 60
Absence of Dipeptidyl Peptidase 3 Increases Oxidative Stress and Causes Bone Loss 60
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene 59
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis 58
Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene 58
Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: A single-center experience 57
In vivo haemopoietic stem cell gene therapy enabled by postnatal trafficking 56
As little as needed: The extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene 56
IL-10 Critically Modulates B Cell Responsiveness in Rankl(-/-) Mice 55
Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation 55
HyperIgE in hypomorphic recombination-activating gene defects 55
Choice of template delivery mitigates the genotoxic risk and adverse impact of editing in human hematopoietic stem cells 55
The RANKL-RANK axis: A bone to thymus round trip 54
Platelets in Wiskott-Aldrich syndrome: victims or executioners? 54
Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices 53
European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia 52
PBX1-directed stem cell transcriptional program drives tumor progression in myeloproliferative neoplasm 52
A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects 52
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. 50
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome 48
Murine Rankl-/- Mesenchymal Stromal Cells Display an Osteogenic Differentiation Defect Improved by a RANKL-Expressing Lentiviral Vector 47
RANK-dependent autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations. 46
Modeling, optimization, and comparable efficacy of T cell and hematopoietic stem cell gene editing for treating hyper-IgM syndrome 46
Pneumocystis murina lesions in lungs of experimentally infected Cd40l–/– mice 45
Therapeutic Potential of Immunoproteasome Inhibition in Duchenne Muscular Dystrophy 45
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. 45
TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. 44
Innovative Cell-Based Therapies and Conditioning to Cure RAG Deficiency 44
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1 44
Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis. 43
Unbiased assessment of genome integrity and purging of adverse outcomes at the target locus upon editing of CD4+ T‐cells for the treatment of Hyper IgM1 43
Efficacy and safety of anti-CD45-saporin as conditioning agent for RAG deficiency 43
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency 41
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy. 41
One disease, many genes: Implications for the treatment of osteopetroses 40
Genetically determined lymphopenia and autoimmune manifestations. 40
Revertant T lymphocytes in a patient with Wiskott-Aldrich syndrome: Analysis of function and distribution in lymphoid organs. 40
The microbiome and immunodeficiencies: Lessons from rare diseases 39
Autoimmunity in thymic epithelial tumors: a not yet clarified pathologic paradigm associated with several unmet clinical needs 39
Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome 39
Inhibition of BUB1 results in genetic instability and anchorance-indipendent growth of normal human fibroblasts 39
In vivo chronic stimulation unveils autoreactive potential of Wiskott-Aldrich syndrome protein-deficient b cells 38
Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications 37
Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry. 37
Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28. 37
RAGs and BUGS: An alliance for autoimmunity 37
Severe combined immunodeficiency in Greek children over a 20-year period: rarity of ?c-chain deficiency (X-linked) type. 36
Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene 36
Defect of regulatory T cells in patients with Omenn syndrome. 36
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. 36
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. 36
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene. 36
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity 35
Premature Senescence and Increased Oxidative Stress in the Thymus of Down Syndrome Patients 35
Wiskott-Aldrich syndrome protein deficiency in natural killer and dendritic cells affects antitumor immunity 35
Osteopetrosis: genetics, treatment and new insights into osteoclast function. 34
AIRE deficiency in thymus of 2 patients with Omenn syndrome. 34
Damaging-agent sensitivity of Artemis-deficient cell lines. 34
Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis. 34
Defects in the TCIRG1-encoded 116kD subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. 33
Thymic Tissue Regeneration Using Natural Collagen Scaffolds 33
Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies 33
Soluble Factors on Stage to Direct Mesenchymal Stem Cells Fate. 33
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis. 32
RANKL Cytokine: From Pioneer of the Osteoimmunology Era to Cure for a Rare Disease. 32
B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome 32
Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans 32
Sphingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia, and multiple sclerosis 32
Specificity of the rearrangements of the T-cell receptor gamma gene in human lymphomas 31
In vitro and in vivo antisense-mediated growth inhibition of a mammary adenocarcinoma from MMTV-neu transgenic mice 31
Of Omenn and mice. Trends Immunol. 29:133-140, 2008. 31
Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells. 31
Isolation of a zinc finger motif (ZNF75) mapping on chromosome Xq26 30
Diagnosi molecolare di malattie genetiche 30
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis 30
T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency 29
Thymic epithelium abnormalities in DiGeorge and Down syndrome patients contribute to dysregulation in T cell development 29
Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor. 29
Osteopetrosis: Genetics, treatment and new insights into osteoclast function 29
Anti-CD3? mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: Therapeutic implications 29
ZNF75 - ISOLATION OF A CDNA CLONE OF THE KRAB ZINC-FINGER GENE SUBFAMILY MAPPED IN YACS 1 MB TELOMERIC OF HPRT 29
Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia 28
Totale 4.798
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Categoria #
all - tutte 19.286
article - articoli 18.868
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 38.154
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202434 0 0 0 0 0 0 0 0 1 1 28 4
2024/20252.037 11 12 170 73 326 61 60 156 84 92 528 464
2025/20263.744 256 322 337 736 731 170 487 152 225 214 114 0
Totale 5.815