IRIS
FORLINO, ANTONELLA
 Distribuzione geografica
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Continente #
NA - Nord America 2.652
EU - Europa 1.824
AS - Asia 1.170
Continente sconosciuto - Info sul continente non disponibili 2
OC - Oceania 2
AF - Africa 1
SA - Sud America 1
Totale 5.652
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Nazione #
US - Stati Uniti d'America 2.637
CN - Cina 1.148
IE - Irlanda 720
FI - Finlandia 258
UA - Ucraina 239
IT - Italia 174
DE - Germania 147
SE - Svezia 117
GB - Regno Unito 81
BE - Belgio 39
FR - Francia 26
RU - Federazione Russa 12
CA - Canada 11
IN - India 8
IR - Iran 8
MX - Messico 4
NL - Olanda 4
RO - Romania 3
CH - Svizzera 2
JP - Giappone 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AU - Australia 1
BA - Bosnia-Erzegovina 1
BR - Brasile 1
EU - Europa 1
ID - Indonesia 1
KR - Corea 1
MU - Mauritius 1
NZ - Nuova Zelanda 1
PL - Polonia 1
SA - Arabia Saudita 1
TR - Turchia 1
Totale 5.652
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Città #
Dublin 717
Chandler 666
Jacksonville 313
Nanjing 302
Ashburn 208
Ann Arbor 195
Beijing 173
Nanchang 120
Princeton 115
Lawrence 112
Wilmington 102
Helsinki 101
Medford 97
Shenyang 97
Changsha 86
Hebei 83
Jiaxing 68
Pavia 60
Hangzhou 58
Boardman 52
Tianjin 50
Woodbridge 50
Shanghai 48
Milan 45
Brussels 39
Houston 30
New York 30
Dearborn 20
Fairfield 18
Norwalk 17
Washington 17
Seattle 14
Verona 14
Des Moines 10
Jinan 10
Auburn Hills 8
Falkenstein 8
Los Angeles 8
Ningbo 7
Toronto 7
Kunming 6
Lanzhou 5
San Francisco 5
Zhengzhou 5
Andover 3
Borås 3
Falls Church 3
Guangzhou 3
Orange 3
Pune 3
Redwood City 3
Sacramento 3
San Miguel de Allende 3
Ardabil 2
Changchun 2
Gatchina 2
Genova 2
Leawood 2
Maranello 2
Monza 2
San Giuliano Milanese 2
St Petersburg 2
Taizhou 2
Tappahannock 2
Alexandria 1
Auckland 1
Berlin 1
Bhavnagar 1
Cadelbosco Di Sopra 1
Chieti 1
Chongqing 1
Delhi 1
Desio 1
Ercolano 1
Fuzhou 1
Hefei 1
Horben 1
Jakarta 1
Kish 1
Melbourne 1
Monmouth Junction 1
Moscow 1
Nagold 1
Ornavasso 1
Paris 1
Pitesti 1
Polska 1
Raleigh 1
Redmond 1
Riyadh 1
Rockville 1
Sarajevo 1
Shiraz 1
Simi Valley 1
Surrey 1
São Paulo 1
Taganrog 1
Voronezh 1
Walnut 1
Winnipeg 1
Totale 4.281
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Nome #
Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue 102
Partial rescue of biochemical parameters after hematopoietic stem cell transplantation in a patient with prolidase deficiency due to two novel PEPD mutations 95
Improved prolidase activity assay allowed enzyme kinetic characterization and faster prolidase deficiency diagnosis 95
Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta. 88
In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation. 87
Matrix disruptions, growth, and degradation of cartilage with impaired sulfation. 86
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. 85
Cartilage histogenesis in a murine model of chondrodysplasia 84
New perspectives on osteogenesis imperfecta. 83
Differential response to intracellular stress in the skin from osteogenesis imperfecta Brtl mice with lethal and non lethal phenotype: a proteomic approach 78
Effect of enamel matrix derivative on human periodontal fibroblasts: proliferation, morphology and root surface colonization. An in vitro study 78
Human recombinant prolidase from eukaryotic and prokaryotic sources. Expression, purification, characterization and long-term stability studies. 77
Deposition of mutant type I collagen in the extracellular matrix of cultured dermal fibroblasts in osteogenesis imperfecta. 77
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 77
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts 76
A quantitative and qualitative method for direct 2-DE analysis of murine cartilage 73
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. 70
Altered signaling in the G1 phase deregulates chondrocyte growth in a mouse model with proteoglycan undersulfation. 70
Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapy 70
Glycosaminoglycans show a specific periodic interaction with type I collagen fibrils. 70
Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship. 69
A 931 + 2T-->C transition in one COL1A2 allele causes exon 16 skipping in PRO alpha 2(I) mRNA and produces moderately severe OI. 69
Prolidase enzyme is required for extracellular matrix integrity and impacts on postnatal cerebellar cortex development 68
Multiple effects of the Na(+)/H (+) antiporter inhibitor HMA on cancer cells. 67
Deficient expression of the small proteoglycan decorin in a case of severe/lethal osteogenesis imperfecta. 67
Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin 66
Alpha 1-antitrypsin activity in subarachnoid hemorrhage. 65
A Mn(II)-Mn(II) center in human prolidase 65
4-PBA ameliorates cellular homeostasis in fibroblasts from osteogenesis imperfecta patients by enhancing autophagy and stimulating protein secretion 65
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome 64
Optimization of a capillary electrophoretic method to detect and quantify the Gly-Pro dipeptide in complex matrices from long term cultured prolidase deficiency fibroblasts 63
Lack of prolidase causes a bone phenotype both in human and in mouse 62
Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations 61
Alteration of proteoglycan sulfation affects bone growth and remodeling. 61
Activity of alpha 1-antitrypsin and cigarette smoking in subarachnoid haemorrhage from ruptured aneurysm. 60
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia 59
Extracellular matrix deposition in cultured dermal fibroblasts from four probands affected by osteogenesis imperfecta. 58
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. 58
Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification 58
A novel mutation in the sulphate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. 57
Prolidase deficiency may be reversed by hematopietic stem cell transplantation: CE analysis of dipeptides in urine and monitoring of prolidase activity in blood. 57
N-benzyloxycarbonyl-L-proline: an in vitro inhibitor of prolidase. 57
The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta 57
Cleavage of collagen RNA transcripts by hammerhead ribozymes in vitro is mutation-specific and shows competitive binding effects. 56
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 56
Insights from a transgenic mouse model on the role of SLC26A2 in health and disease. 56
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. 56
HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency. 55
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. 55
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. 54
Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta 54
Severely impaired bone material quality in chihuahua zebrafish resembles classical dominant human Osteogenesis Imperfecta 53
Osteogenesis imperfecta and type I collagen mutations. A lethal variant caused by a Gly910->Ala substitution in the a1(I) chain. 52
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 52
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. 52
Alternative splicing in COL1A1 mRNA leads to a partial null allele and two in-frame forms with structural defects in non-lethal osteogenesis imperfecta. 52
Brittle IV Mouse Model for Osteogenesis imperfecta IV Demonstrates Postpubertal Adaptations to Improve Whole Bone Strength. 52
Early Fracture Healing is Delayed in the Col1a2 +/G610C Osteogenesis Imperfecta Murine Model 52
Prolidase Deficiency: case reports of two Argentinian brothers. 51
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 51
Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency 49
Crtap and p3h1 knock out zebrafish support defective collagen chaperoning as the cause of their osteogenesis imperfecta phenotype 49
Cellular mechanism of decreased bone in Brtl mouse model of OI: imbalance of decreased osteoblast function and increased osteoclasts and their precursors. 48
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. 47
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. 47
Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI 47
Identifying the structure of the active sites of human recombinant prolidase 47
Evaluation of the TiMo12Zr6Fe2 alloy for orthopaedic implants: in vitro biocompatibility study by using primary human fibroblasts and osteoblasts 46
Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling 46
Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate 46
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes 46
MCM5: A new actor in the link between DNA replication and Meier-Gorlin syndrome 45
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. 45
Osteogenesis Imperfecta: prospects for molecular therapeutics. 44
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. 44
Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective 44
Decorin transfection induces proteomic and phenotypic modulation in breast cancer cells 8701-BC. 44
XX males SRY negative: a confirmed cause of infertility 43
Molecular stability of chemically modified collagen triple helices 43
Characterization of stress response in human retinal epithelial cells. 42
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype 42
PRKACB and Carney complex 41
Steady-state and pulse-chase analyses of fibrillar collagen 40
Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteine 40
Osteogenesis imperfecta. 39
Candidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebrates. 38
Current and emerging treatments for the management of osteogenesis imperfecta. 37
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen. 36
Replenishing cartilage from endogenous stem cells. 36
A Rare Cause of Lower Extremity Ulcers: Prolidase Deficiency 35
Osteogenesis imperfecta 34
Flavivirus antagonism of type i interferon signaling reveals prolidase as a regulator of IFNAR1 surface expression 34
Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta. 32
Treatment options for osteogenesis imperfecta 32
Testing the Cre-mediated genetic switch for the generation of conditional knock-in mice 31
Absence of Dipeptidyl Peptidase 3 increases oxidative stress and causes bone loss 30
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia 30
Structure, stability and interactions of type I collagen with GLY349-CYS substitution in alpha 1(I) chain in a murine Osteogenesis Imperfecta model. 28
Zebrafish: A Resourceful Vertebrate Model to Investigate Skeletal Disorders 27
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1 26
Totale 5.563
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Categoria #
all - tutte 19.404
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 19.404
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201924 0 0 0 0 0 0 0 0 0 11 9 4
2019/20201.453 370 592 14 45 13 59 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
2023/2024637 106 135 26 37 65 166 18 64 10 10 0 0
Totale 5.875