IRIS
FORLINO, ANTONELLA
 Distribuzione geografica
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Continente #
NA - Nord America 2.873
EU - Europa 1.942
AS - Asia 1.439
Continente sconosciuto - Info sul continente non disponibili 2
OC - Oceania 2
AF - Africa 1
SA - Sud America 1
Totale 6.260
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Nazione #
US - Stati Uniti d'America 2.849
CN - Cina 1.203
IE - Irlanda 720
FI - Finlandia 288
UA - Ucraina 240
SG - Singapore 200
IT - Italia 190
DE - Germania 179
SE - Svezia 117
GB - Regno Unito 88
BE - Belgio 43
FR - Francia 29
CA - Canada 19
RU - Federazione Russa 15
CZ - Repubblica Ceca 12
JP - Giappone 11
IN - India 8
IR - Iran 8
LT - Lituania 5
MX - Messico 4
NL - Olanda 4
RO - Romania 3
VN - Vietnam 3
AZ - Azerbaigian 2
CH - Svizzera 2
PL - Polonia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
AT - Austria 1
AU - Australia 1
BA - Bosnia-Erzegovina 1
BR - Brasile 1
ES - Italia 1
EU - Europa 1
HU - Ungheria 1
ID - Indonesia 1
KR - Corea 1
MU - Mauritius 1
NZ - Nuova Zelanda 1
PA - Panama 1
SA - Arabia Saudita 1
TR - Turchia 1
Totale 6.260
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Città #
Dublin 717
Chandler 666
Jacksonville 313
Nanjing 302
Ashburn 208
Ann Arbor 195
Boardman 179
Beijing 178
Singapore 141
Helsinki 131
Nanchang 120
Princeton 115
Lawrence 112
Wilmington 102
Medford 97
Shenyang 97
Changsha 86
Hebei 83
Shanghai 72
Jiaxing 68
Pavia 60
Hangzhou 58
Milan 53
Tianjin 50
Woodbridge 50
Brussels 43
Los Angeles 35
Houston 30
New York 30
Dearborn 20
Munich 20
Fairfield 18
Norwalk 17
Washington 17
Seattle 14
Verona 14
Brno 12
Toronto 11
Des Moines 10
Falkenstein 10
Jinan 10
Auburn Hills 8
Dallas 8
Ningbo 8
Tokyo 8
Kunming 6
Lanzhou 5
San Francisco 5
Zhengzhou 5
Atlanta 4
Chicago 4
Frankfurt am Main 4
Guangzhou 4
London 4
Andover 3
Borås 3
Falls Church 3
Nuremberg 3
Orange 3
Ottawa 3
Pune 3
Redwood City 3
Sacramento 3
San Miguel de Allende 3
Ardabil 2
Baku 2
Brugherio 2
Changchun 2
Florence 2
Gatchina 2
Genova 2
Hefei 2
Leawood 2
Maranello 2
Monza 2
Pescara 2
San Giuliano Milanese 2
St Petersburg 2
Taizhou 2
Tappahannock 2
Alexandria 1
Auckland 1
Baqiao 1
Berlin 1
Bhavnagar 1
Cadelbosco Di Sopra 1
Chieti 1
Chongqing 1
Clifton 1
Delhi 1
Desio 1
Ercolano 1
Forest City 1
Fort Worth 1
Foshan 1
Fuzhou 1
Handan 1
Harbin 1
Horben 1
Huizhou 1
Totale 4.719
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Nome #
Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue 108
Improved prolidase activity assay allowed enzyme kinetic characterization and faster prolidase deficiency diagnosis 105
Partial rescue of biochemical parameters after hematopoietic stem cell transplantation in a patient with prolidase deficiency due to two novel PEPD mutations 101
Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta. 98
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family. 95
In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation. 93
Cartilage histogenesis in a murine model of chondrodysplasia 93
Matrix disruptions, growth, and degradation of cartilage with impaired sulfation. 91
New perspectives on osteogenesis imperfecta. 86
Differential response to intracellular stress in the skin from osteogenesis imperfecta Brtl mice with lethal and non lethal phenotype: a proteomic approach 84
Deposition of mutant type I collagen in the extracellular matrix of cultured dermal fibroblasts in osteogenesis imperfecta. 83
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts 83
Effect of enamel matrix derivative on human periodontal fibroblasts: proliferation, morphology and root surface colonization. An in vitro study 82
Human recombinant prolidase from eukaryotic and prokaryotic sources. Expression, purification, characterization and long-term stability studies. 81
Differential expression of both extracellular and intracellular proteins is involved in the lethal or nonlethal phenotypic variation of BrtlIV, a murine model for osteogenesis imperfecta 81
A quantitative and qualitative method for direct 2-DE analysis of murine cartilage 80
Altered signaling in the G1 phase deregulates chondrocyte growth in a mouse model with proteoglycan undersulfation. 77
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. 76
Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapy 76
Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship. 75
A 931 + 2T-->C transition in one COL1A2 allele causes exon 16 skipping in PRO alpha 2(I) mRNA and produces moderately severe OI. 75
Glycosaminoglycans show a specific periodic interaction with type I collagen fibrils. 75
A Mn(II)-Mn(II) center in human prolidase 73
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome 73
Multiple effects of the Na(+)/H (+) antiporter inhibitor HMA on cancer cells. 73
Deficient expression of the small proteoglycan decorin in a case of severe/lethal osteogenesis imperfecta. 73
Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin 73
Alpha 1-antitrypsin activity in subarachnoid hemorrhage. 72
Prolidase enzyme is required for extracellular matrix integrity and impacts on postnatal cerebellar cortex development 72
4-PBA ameliorates cellular homeostasis in fibroblasts from osteogenesis imperfecta patients by enhancing autophagy and stimulating protein secretion 71
Insights from a transgenic mouse model on the role of SLC26A2 in health and disease. 70
Alteration of proteoglycan sulfation affects bone growth and remodeling. 68
Lack of prolidase causes a bone phenotype both in human and in mouse 68
Optimization of a capillary electrophoretic method to detect and quantify the Gly-Pro dipeptide in complex matrices from long term cultured prolidase deficiency fibroblasts 67
Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations 66
A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta. 66
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia 64
N-benzyloxycarbonyl-L-proline: an in vitro inhibitor of prolidase. 63
The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta 63
Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta 63
Activity of alpha 1-antitrypsin and cigarette smoking in subarachnoid haemorrhage from ruptured aneurysm. 62
Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification 62
Extracellular matrix deposition in cultured dermal fibroblasts from four probands affected by osteogenesis imperfecta. 61
An alpha 2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of osteogenesis imperfecta. 61
Prolidase deficiency may be reversed by hematopietic stem cell transplantation: CE analysis of dipeptides in urine and monitoring of prolidase activity in blood. 60
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 60
Brittle IV Mouse Model for Osteogenesis imperfecta IV Demonstrates Postpubertal Adaptations to Improve Whole Bone Strength. 60
Severely impaired bone material quality in chihuahua zebrafish resembles classical dominant human Osteogenesis Imperfecta 60
A novel mutation in the sulphate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. 59
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. 59
Cleavage of collagen RNA transcripts by hammerhead ribozymes in vitro is mutation-specific and shows competitive binding effects. 58
Early Fracture Healing is Delayed in the Col1a2 +/G610C Osteogenesis Imperfecta Murine Model 58
Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation. 57
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 57
In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knock-in murine model for classical, dominant osteogenesis imperfecta 57
Alternative splicing in COL1A1 mRNA leads to a partial null allele and two in-frame forms with structural defects in non-lethal osteogenesis imperfecta. 57
HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency. 56
Prolidase Deficiency: case reports of two Argentinian brothers. 54
Osteogenesis imperfecta and type I collagen mutations. A lethal variant caused by a Gly910->Ala substitution in the a1(I) chain. 54
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. 54
Crtap and p3h1 knock out zebrafish support defective collagen chaperoning as the cause of their osteogenesis imperfecta phenotype 54
Evaluation of the TiMo12Zr6Fe2 alloy for orthopaedic implants: in vitro biocompatibility study by using primary human fibroblasts and osteoblasts 52
Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency 52
Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate 52
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes 52
Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling 51
Use of the Cre/Lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice. 50
Cellular mechanism of decreased bone in Brtl mouse model of OI: imbalance of decreased osteoblast function and increased osteoclasts and their precursors. 50
Characterization of stress response in human retinal epithelial cells. 50
Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective 50
Identifying the structure of the active sites of human recombinant prolidase 50
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. 49
MCM5: A new actor in the link between DNA replication and Meier-Gorlin syndrome 49
Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI 49
Decorin transfection induces proteomic and phenotypic modulation in breast cancer cells 8701-BC. 48
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype 48
Consortium of Osteogenesis Imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 48
Molecular stability of chemically modified collagen triple helices 48
Osteogenesis Imperfecta: prospects for molecular therapeutics. 47
XX males SRY negative: a confirmed cause of infertility 47
Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril formation. 46
PRKACB and Carney complex 44
Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteine 43
Osteogenesis imperfecta. 43
Steady-state and pulse-chase analyses of fibrillar collagen 42
Candidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebrates. 40
Current and emerging treatments for the management of osteogenesis imperfecta. 39
A Rare Cause of Lower Extremity Ulcers: Prolidase Deficiency 39
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen. 39
Replenishing cartilage from endogenous stem cells. 38
Osteogenesis imperfecta 36
Flavivirus antagonism of type i interferon signaling reveals prolidase as a regulator of IFNAR1 surface expression 36
Treatment options for osteogenesis imperfecta 36
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia 36
Testing the Cre-mediated genetic switch for the generation of conditional knock-in mice 35
Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta. 34
Absence of Dipeptidyl Peptidase 3 increases oxidative stress and causes bone loss 34
Zebrafish: A Resourceful Vertebrate Model to Investigate Skeletal Disorders 31
Structure, stability and interactions of type I collagen with GLY349-CYS substitution in alpha 1(I) chain in a murine Osteogenesis Imperfecta model. 30
More bone with less minerals? The effects of dietary phosphorus on the post-cranial skeleton in zebrafish 30
Totale 6.049
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Categoria #
all - tutte 28.373
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 28.373
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020360 0 0 0 0 0 0 15 71 18 140 102 14
2020/2021550 57 51 35 48 7 58 13 89 29 77 67 19
2021/2022538 9 13 10 12 10 6 14 39 29 14 80 302
2022/20231.920 185 177 12 150 199 155 7 114 831 18 46 26
2023/2024733 106 135 26 37 65 166 18 64 10 33 39 34
2024/2025525 69 142 70 60 91 93 0 0 0 0 0 0
Totale 6.496