CNR Institutional Research Information System

VILLA, ANNA
 Distribuzione geografica
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Continente #
AS - Asia 3.044
NA - Nord America 2.051
EU - Europa 764
SA - Sud America 551
Continente sconosciuto - Info sul continente non disponibili 79
AF - Africa 53
OC - Oceania 3
AN - Antartide 1
Totale 6.546
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Nazione #
US - Stati Uniti d'America 1.914
SG - Singapore 1.240
CN - Cina 739
BR - Brasile 427
HK - Hong Kong 296
VN - Vietnam 267
IT - Italia 233
FR - Francia 162
KR - Corea 151
BD - Bangladesh 87
GB - Regno Unito 78
CA - Canada 67
NL - Olanda 59
DE - Germania 57
JP - Giappone 57
IN - India 53
FI - Finlandia 40
AR - Argentina 32
EC - Ecuador 30
MX - Messico 29
CO - Colombia 25
ZA - Sudafrica 21
PL - Polonia 20
ID - Indonesia 18
IL - Israele 17
IQ - Iraq 17
ES - Italia 15
UZ - Uzbekistan 14
SE - Svezia 13
TR - Turchia 13
PY - Paraguay 11
VE - Venezuela 11
PH - Filippine 10
PK - Pakistan 10
UA - Ucraina 9
SA - Arabia Saudita 8
AT - Austria 7
EG - Egitto 7
RU - Federazione Russa 7
AL - Albania 6
CL - Cile 6
IE - Irlanda 6
JM - Giamaica 6
LT - Lituania 6
MA - Marocco 6
BE - Belgio 5
CH - Svizzera 5
CR - Costa Rica 5
CZ - Repubblica Ceca 5
DO - Repubblica Dominicana 5
LB - Libano 5
MY - Malesia 5
PE - Perù 5
TH - Thailandia 5
TT - Trinidad e Tobago 5
AE - Emirati Arabi Uniti 4
GT - Guatemala 4
HN - Honduras 4
KE - Kenya 4
MM - Myanmar 4
NI - Nicaragua 4
SV - El Salvador 4
AZ - Azerbaigian 3
BY - Bielorussia 3
HR - Croazia 3
HU - Ungheria 3
JO - Giordania 3
NP - Nepal 3
PS - Palestinian Territory 3
PT - Portogallo 3
RO - Romania 3
RS - Serbia 3
SK - Slovacchia (Repubblica Slovacca) 3
TN - Tunisia 3
AM - Armenia 2
CI - Costa d'Avorio 2
DK - Danimarca 2
DZ - Algeria 2
KG - Kirghizistan 2
KZ - Kazakistan 2
MD - Moldavia 2
MU - Mauritius 2
PR - Porto Rico 2
TW - Taiwan 2
AO - Angola 1
AQ - Antartide 1
AU - Australia 1
BA - Bosnia-Erzegovina 1
BM - Bermuda 1
BN - Brunei Darussalam 1
BO - Bolivia 1
CD - Congo 1
DJ - Gibuti 1
EE - Estonia 1
ET - Etiopia 1
GE - Georgia 1
GR - Grecia 1
GY - Guiana 1
IR - Iran 1
LU - Lussemburgo 1
Totale 6.457
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Città #
Singapore 708
Santa Clara 332
Hefei 317
Hong Kong 293
Ashburn 229
San Jose 208
Beijing 162
Seoul 145
Lauterbourg 129
Los Angeles 125
Ho Chi Minh City 96
New York 61
Dallas 59
Hanoi 58
Milan 53
Tokyo 36
São Paulo 25
Orem 23
Montreal 21
Frankfurt am Main 20
Phoenix 19
Chennai 18
Helsinki 18
Minamishinagawa 18
Warsaw 18
London 17
Rio de Janeiro 17
Brooklyn 16
Buffalo 16
Chicago 16
Belo Horizonte 15
Denver 15
Naples 15
Amsterdam 13
Curitiba 13
Munich 13
Rome 13
Tashkent 13
Brasília 12
Da Nang 12
Johannesburg 12
Mexico City 12
Miami 12
Stockholm 12
Turku 12
Guayaquil 11
Haiphong 11
Houston 11
Quito 11
Toronto 11
Atlanta 10
Bengaluru 10
City of London 10
Düsseldorf 10
Lappeenranta 10
Charlotte 9
Guangzhou 9
Poplar 9
Queens 9
Assemini 8
Biên Hòa 8
Council Bluffs 8
Thái Nguyên 8
Vũng Tàu 8
Hyderabad 7
Memphis 7
Portsmouth 7
Boardman 6
Bắc Giang 6
Cairo 6
Florence 6
Las Vegas 6
The Bronx 6
Verona 6
Vienna 6
Boston 5
Brussels 5
Dublin 5
Jacksonville 5
Long Beach 5
Madrid 5
Mumbai 5
Newark 5
Nuremberg 5
Osasco 5
Porto Alegre 5
Recife 5
San Francisco 5
Tampa 5
Tirana 5
Asunción 4
Bogotá 4
Campinas 4
Can Tho 4
Charleston 4
Duque de Caxias 4
Erbil 4
Fort Lauderdale 4
Fortaleza 4
Guarulhos 4
Totale 3.832
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Nome #
Expanded circulating hematopoietic stem/ progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis 113
B lymphocytes limit senescence-driven fibrosis resolution and favor hepatocarcinogenesis in mouse liver injury. 110
A p38 MAPK-ROS axis fuels proliferation stress and DNA damage during CRISPR-Cas9 gene editing in hematopoietic stem and progenitor cells 109
Intestinal microbiota sustains inflammation and autoimmunity induced by hypomorphic RAG defects 107
Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome. 102
Hypomorphic mutation in the RAG2 gene affects dendritic cell distribution and migration. 99
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived from Structural and Functional Analysis of 14 ClC-7 Mutants 99
Correction of osteopetrosis in the neonate oc/oc murine model after lentiviral vector gene therapy and non-genotoxic conditioning 89
Preclinical modeling highlights the therapeutic potential of hematopoietic stem cell gene editing for correction of SCID-X1 85
A standardized protocol for assessing immunodeficiency in mouse models 85
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis 84
MicroRNA-127-3p controls murine hematopoietic stem cell maintenance by limiting differentiation 83
Autosomal recessive osteopetrosis: Mechanisms and treatments 80
Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene 76
A pre-screening FISH-based method to detect CRISPR/Cas9 off-targets in mouse embryonic stem cells 74
Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosis 71
Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations 71
Chromosome Transplantation: Correction of the Chronic Granulomatous Disease Defect in Mouse Induced Pluripotent Stem Cells 68
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)) 67
Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications 66
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene. 65
Absence of Dipeptidyl Peptidase 3 Increases Oxidative Stress and Causes Bone Loss 65
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene 64
Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation 64
In vivo haemopoietic stem cell gene therapy enabled by postnatal trafficking 63
HyperIgE in hypomorphic recombination-activating gene defects 63
A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects 61
Choice of template delivery mitigates the genotoxic risk and adverse impact of editing in human hematopoietic stem cells 60
Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: A single-center experience 59
European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia 59
As little as needed: The extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene 59
Sphingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia, and multiple sclerosis 59
IL-10 Critically Modulates B Cell Responsiveness in Rankl(-/-) Mice 58
The RANKL-RANK axis: A bone to thymus round trip 57
Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices 57
Platelets in Wiskott-Aldrich syndrome: victims or executioners? 56
PBX1-directed stem cell transcriptional program drives tumor progression in myeloproliferative neoplasm 54
Murine Rankl-/- Mesenchymal Stromal Cells Display an Osteogenic Differentiation Defect Improved by a RANKL-Expressing Lentiviral Vector 54
Therapeutic Potential of Immunoproteasome Inhibition in Duchenne Muscular Dystrophy 53
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. 52
Innovative Cell-Based Therapies and Conditioning to Cure RAG Deficiency 52
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome 51
RANK-dependent autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations. 50
Modeling, optimization, and comparable efficacy of T cell and hematopoietic stem cell gene editing for treating hyper-IgM syndrome 50
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1 50
Pneumocystis murina lesions in lungs of experimentally infected Cd40l–/– mice 49
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. 48
Inhibition of BUB1 results in genetic instability and anchorance-indipendent growth of normal human fibroblasts 48
Efficacy and safety of anti-CD45-saporin as conditioning agent for RAG deficiency 48
Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications 47
TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. 47
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency 47
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy. 47
One disease, many genes: Implications for the treatment of osteopetroses 46
Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis. 46
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 46
Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome 45
Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene 44
Revertant T lymphocytes in a patient with Wiskott-Aldrich syndrome: Analysis of function and distribution in lymphoid organs. 44
In vivo chronic stimulation unveils autoreactive potential of Wiskott-Aldrich syndrome protein-deficient b cells 43
Thymic Tissue Regeneration Using Natural Collagen Scaffolds 43
Genetically determined lymphopenia and autoimmune manifestations. 42
Autoimmunity in thymic epithelial tumors: a not yet clarified pathologic paradigm associated with several unmet clinical needs 42
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. 42
The microbiome and immunodeficiencies: Lessons from rare diseases 40
Defect of regulatory T cells in patients with Omenn syndrome. 40
RAGs and BUGS: An alliance for autoimmunity 40
Defects in the TCIRG1-encoded 116kD subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. 39
Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry. 39
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity 39
AIRE deficiency in thymus of 2 patients with Omenn syndrome. 39
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene. 39
Severe combined immunodeficiency in Greek children over a 20-year period: rarity of ?c-chain deficiency (X-linked) type. 38
Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28. 38
Wiskott-Aldrich syndrome protein deficiency in natural killer and dendritic cells affects antitumor immunity 38
Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies 38
Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis. 38
Osteopetrosis: genetics, treatment and new insights into osteoclast function. 37
Premature Senescence and Increased Oxidative Stress in the Thymus of Down Syndrome Patients 37
RANKL Cytokine: From Pioneer of the Osteoimmunology Era to Cure for a Rare Disease. 37
Soluble Factors on Stage to Direct Mesenchymal Stem Cells Fate. 37
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. 37
T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency 36
Damaging-agent sensitivity of Artemis-deficient cell lines. 36
Diagnosi molecolare di malattie genetiche 36
B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome 36
Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans 36
Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells. 36
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis. 35
ZNF75 - ISOLATION OF A CDNA CLONE OF THE KRAB ZINC-FINGER GENE SUBFAMILY MAPPED IN YACS 1 MB TELOMERIC OF HPRT 35
Of Omenn and mice. Trends Immunol. 29:133-140, 2008. 35
Specificity of the rearrangements of the T-cell receptor gamma gene in human lymphomas 34
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis 34
Thymic epithelium abnormalities in DiGeorge and Down syndrome patients contribute to dysregulation in T cell development 33
In vitro and in vivo antisense-mediated growth inhibition of a mammary adenocarcinoma from MMTV-neu transgenic mice 33
Osteopetrosis: Genetics, treatment and new insights into osteoclast function 33
Anti-CD3? mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: Therapeutic implications 33
Isolation of a zinc finger motif (ZNF75) mapping on chromosome Xq26 32
Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I 32
Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency 31
Totale 5.343
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Categoria #
all - tutte 23.483
article - articoli 22.964
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 46.447
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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
2025/20263.906 256 322 337 736 731 170 487 152 225 214 134 142
2026/2027569 125 164 280 0 0 0 0 0 0 0 0 0
Totale 6.546