Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants (296 views)
Sci Rep (ISSN: 2045-2322linking, 2045-2322electronic), 2019 Jul 19; 9(1): 10519-10519.
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Paper type: Journal Article,
Impact factor: 5.078, 5-year impact factor: 5.078
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Keywords: Abnormalities, Multiple Genetics , Amino Acid Substitution , Benzothiazoles Metabolism , Co-Repressor Proteins Genetics Metabolism , External Abnormalities , Dominant , Humans , Hypospadias Genetics , Models, Molecular , Muscle Hypotonia Genetics , Mutation, Missense , Nipples Abnormalities , Point Mutation , Protein Conformation , Protein Denaturation , Protein Domains , Protein Stability , Recombinant Proteins Metabolism , Scalp Abnormalities , Transcription Factor Ap-2 Metabolism,
Affiliations:
*** IBB - CNR ***
IRCCS SDN, Via Gianturco 113, 80143, Napoli, Italy., Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy., Universita degli Studi della Campania "Luigi Vanvitelli", Viale Abramo Lincoln 5, 81100, Caserta, Italy., Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy. luigi.vitagliano@unina.it.,
Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy.
Università degli Studi della Campania "Luigi Vanvitelli", Viale Abramo Lincoln 5, 81100, Caserta, Italy.
References:
Not available.
Sci Rep (ISSN: 2045-2322linking, 2045-2322electronic), 2019 Jul 19; 9(1): 10519-10519.
Export to BibTeX Export to EndNote
Paper type: Journal Article,
Impact factor: 5.078, 5-year impact factor: 5.078
Url: Not available.
Keywords: Abnormalities, Multiple Genetics , Amino Acid Substitution , Benzothiazoles Metabolism , Co-Repressor Proteins Genetics Metabolism , External Abnormalities , Dominant , Humans , Hypospadias Genetics , Models, Molecular , Muscle Hypotonia Genetics , Mutation, Missense , Nipples Abnormalities , Point Mutation , Protein Conformation , Protein Denaturation , Protein Domains , Protein Stability , Recombinant Proteins Metabolism , Scalp Abnormalities , Transcription Factor Ap-2 Metabolism,
Affiliations:
*** IBB - CNR ***
IRCCS SDN, Via Gianturco 113, 80143, Napoli, Italy., Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy., Universita degli Studi della Campania "Luigi Vanvitelli", Viale Abramo Lincoln 5, 81100, Caserta, Italy., Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy. luigi.vitagliano@unina.it.,
Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy.
Università degli Studi della Campania "Luigi Vanvitelli", Viale Abramo Lincoln 5, 81100, Caserta, Italy.
References:
Not available.
Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants
The scalp-ear-nipple (SEN) syndrome is an autosomal-dominant disorder characterized by cutis aplasia of the scalp and malformations of breast, external ears, digits, and nails. Genetic analyses have shown that the disease is caused by missense mutations of the KCTD1 protein, although the functional/structural basis of SEN insurgence is hitherto unknown. With the aim of unravelling the molecular basis of the SEN syndrome associated with KCTD1 mutations we here expressed and characterized several disease causing mutants. A preliminary dissection of the protein provides insights into the role that individual domains play in KCTD1 stability. The characterization of SEN-causing mutants indicates that, although the mutation sites are located in distant regions of the BTB domain or of the pre-BTB region, all of them are unable to interact with the transcription factor AP-2alpha, a well-known KCTD1 biological partner. Notably, all mutations, including the one located in the pre-BTB region, produce a significant destabilization of the protein. The structural role of the pre-BTB region in KCTD1 and other proteins of the family is corroborated by its sequence conservation in orthologs and paralogs. Interestingly, SEN-causing mutations also favor the tendency of KCTD1 to adopt structural states that are characterized by the ability to bind the beta-amyloid fluorescent dye thioflavin T. The formation of aggregation-prone species may have important implications for the disease etiology. Collectively, these findings provide an intriguing picture of the functional and structural alterations induced by KCTD1 mutations that ultimately lead to disease.
The scalp-ear-nipple (SEN) syndrome is an autosomal-dominant disorder characterized by cutis aplasia of the scalp and malformations of breast, external ears, digits, and nails. Genetic analyses have shown that the disease is caused by missense mutations of the KCTD1 protein, although the functional/structural basis of SEN insurgence is hitherto unknown. With the aim of unravelling the molecular basis of the SEN syndrome associated with KCTD1 mutations we here expressed and characterized several disease causing mutants. A preliminary dissection of the protein provides insights into the role that individual domains play in KCTD1 stability. The characterization of SEN-causing mutants indicates that, although the mutation sites are located in distant regions of the BTB domain or of the pre-BTB region, all of them are unable to interact with the transcription factor AP-2alpha, a well-known KCTD1 biological partner. Notably, all mutations, including the one located in the pre-BTB region, produce a significant destabilization of the protein. The structural role of the pre-BTB region in KCTD1 and other proteins of the family is corroborated by its sequence conservation in orthologs and paralogs. Interestingly, SEN-causing mutations also favor the tendency of KCTD1 to adopt structural states that are characterized by the ability to bind the beta-amyloid fluorescent dye thioflavin T. The formation of aggregation-prone species may have important implications for the disease etiology. Collectively, these findings provide an intriguing picture of the functional and structural alterations induced by KCTD1 mutations that ultimately lead to disease.
Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants
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Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants
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* Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus (600 views)
Ultrasound Obst Gyn (ISSN: 0960-7692, 1469-0705), 2006 May; 27(5): 509-516.
Impact Factor: 2.288
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Fiory F, Alberobello AT, Miele C, Oriente F, Esposito I, Corbo V, Ruvo M, Tizzano B, Rasmussen TE, Gammeltoft S, Formisano P, Beguinot F
* Tyrosine phosphorylation of phosphoinositide-dependent kinase 1 by the insulin receptor is necessary for insulin metabolic signaling (542 views)
Mol Cell Biol (ISSN: 0270-7306, 1098-5549), 2005 Dec; 25(24): 10803-10814.
Impact Factor: 7.093
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Criscuolo C, Mancini P, Menchise V, Sacca F, De Michele G, Banfi S, Filla A
* Very late onset in ataxia oculomotor apraxia type I [1] (394 views)
Ann Neurol (ISSN: 0364-5134), 2005 May; 57(5): 777-777.
Impact Factor: 7.571
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Picone D, Di Fiore A, Ercole C, Franzese M, Sica F, Tomaselli S, Mazzarella L
* The role of the hinge loop in domain swapping - The special case of bovine seminal ribonuclease (608 views)
Jbc Papers (ISSN: 0021-9258, 1083-351x, 0021-9258linking), 2005 Apr 8; 280(14): 13771-13778.
Impact Factor: 5.854
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Esposito G, Vitagliano L, Cevenini A, Amelio T, Zagari A, Salvatore F
* Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child (835 views)
Haematologica (ISSN: 0006-4971, 0006-6497, 0390-6078), 2005 Jan 15; 105(2): 905-906.
Impact Factor: 10.131
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Langella E, Improta R, Barone V
* Checking the pH-induced conformational transition of prion protein by molecular dynamics simulations: Effect of protonation of histidine residues (646 views)
Biophysical Journal (ISSN: 0006-3495, 1542-0086), 2004 Dec; 87(6): 3623-3632.
Impact Factor: 4.585
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Esposito G, Vitagliano L, Costanzo P, Borrelli L, Barone R, Pavone L, Izzo P, Zagari A, Salvatore F
* Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function (504 views)
Biochem J (ISSN: 0264-6021, 1470-8728electronic, 0264-6021linking), 2004 May 15; 380: 51-56.
Impact Factor: 4.278
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Milardi D, Grasso DM, Verbeet MP, Canters GW, La Rosa C
* Thermodynamic analysis of the contributions of the copper ion and the disulfide bridge to azurin stability: Synergism among multiple depletions (481 views)
Arch Bioch Bioph (ISSN: 0003-9861, 0003-9861linking), 2003 Jun 1; 414(1): 121-127.
Impact Factor: 2.338
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Dathan N, Zaccaro L, Esposito S, Isernia C, Omichinski JG, Riccio A, Pedone C, Di Blasio B, Fattorusso R, Pedone PV
* The Arabidopsis SUPERMAN protein is able to specifically bind DNA through its single Cys(2)-His(2) zinc finger motif (1316 views)
Nucleic Acids Res (ISSN: 0305-1048, 1362-4962, 1362-4962electronic), 2002 Nov 15; 30(22): 4945-4951.
Impact Factor: 7.051
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Rossi M, Manfredi V, Ruvo M, Fassina G, Verdoliva A
* Sequence-simplification and chimeric assembly: New models of peptide antigen modification (502 views)
Mol Immunol (ISSN: 0161-5890), 2002 Nov; 39(7-8): 443-451.
Impact Factor: 2.414
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Masullo M, Cantiello P, Paola B, Fiengo A, Vitagliano L, Zagari A, Arcari P
* Valine114 Replacements In The Archaeal Elongation Factor 1a Enhanced Its Ability To Interact With Aminoacyl-Trna And Kirromycin (468 views)
Biochemistry (ISSN: 0006-2960, 1520-4995, 1520-4995electronic), 2002; 41(49): 14482-14488.
Impact Factor: 4.064
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De Falco S, Ruvoletto MG, Verdoliva A, Ruvo M, Raucci A, Marino M, Senatore S, Cassani G, Alberti A, Pontisso P, Fassina G
* Cloning and Expression of a Novel Hepatitis B Virus-binding Protein from HepG2 Cells (847 views)
Jbc Papers (ISSN: 0021-9258, 1083-351x, 0021-9258linking), 2001 Sep 28; 276(39): 36613-36623.
Impact Factor: 7.258
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Orru S, Vitagliano L, Esposito L, Mazzarella L, Marino G, Ruoppolo M
Effect of deamidation on folding of ribonuclease (530 views)
Protein Sci (ISSN: 0961-8368, 1469-896xelectronic), 2000 Dec; 9(12): 2577-2582.
Impact Factor: 3.869
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Oliva R, Falcigno L, D'Auria G, Zanotti G, Paolillo L
Conformation and calcium-binding properties of a bicyclic nonapeptide (530 views)
Biopolymers (ISSN: 0006-3525, 0006-6352, 0006-3525print), 2000; 56(1): 27-36.
Impact Factor: 2.405
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Martínez JC, Viguera AR, Berisio R, Wilmanns M, Mateo PL, Filimonov VV, Serrano L
Thermodynamic analysis of α-spectrin SH3 and two of its circular permutants with different loop lengths: Discerning the reasons for rapid folding in proteins (1498 views)
Biochemistry (ISSN: 0006-2960, 1520-4995, 1520-4995electronic), 1999 Jan 12; 38(2): 549-559.
Impact Factor: 4.493
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Capasso S, Di Donato A, Esposito L, Sica F, Sorrentino G, Vitagliano L, Zagari A, Mazzarella L
Deamidation in proteins: The crystal structure of bovine pancreatic ribonuclease with an isoaspartyl residue at position 67 (636 views)
J Mol Biol (ISSN: 0022-2836, 1089-8638, 1089-8638electronic), 1996; 257(3): 492-496.
Impact Factor: 5.673
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Lastoria S, Piccolo S, Varrella P, Acampa W, Mainolfi C, Vergara E, Wang H, Muto P, Salvatore M
Comparative results of Tc-99m MIBI and Tc-99m MDP scintimammography in patients with breast abnormalities (292 views)
J Nucl Med (ISSN: 0161-5505, 1535-5667, 1535-5667electronic), 1995; 36(5SUPPL.): N/D-N/D.
Impact Factor: 3.491
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d'Onofrio G, Salvati AM, Berti P, Cappabianca MP, Marsili G, Quarantelli M, Zini G, Casini C, De Philippis C, Mango G
Analysis of leucocyte populations with the Coulter S-Plus STKR as a screening tool for haematological abnormalities (614 views)
Clin Lab Haematol (ISSN: 0141-9854), 1991; 13(1): 51-66.
Impact Factor: 0.362
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* No association between variations in extracranial venous anatomy and clinical outcomes in multiple sclerosis patients over 5 years (313 views)
Bmc Neurol (ISSN: 1471-2377linking, 1471-2377electronic), 2019 Jun 11; 19(1): 121-121.
Impact Factor: 2.17
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Della Corte L, Fabozzi A, Giampaolino P, Saccone G, Pizzuti LM, Romeo V, Maurea S, Bifulco G
* A case of 20-week abortion in a rare communicating rudimentary horn of a misinterpreted unicornuate uterus, incorrectly diagnosed as bicornuate: A serious hazard! (313 views)
Eur J Obstet Gynecol Reprod Biol (ISSN: 0301-2115linking), 2019 Apr; 235: 133-135.
Impact Factor: 1.809
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Caprio MG, Di Serafino M, De Feo A, Guerriero E, Perillo T, Barbuto L, Vezzali N, Rossi E, Ferro F, Vallone G, Orazi C
* Ultrasonographic and multimodal imaging of pediatric genital female diseases (292 views) (PDF 117 views)
J Ultrasound (ISSN: 1876-7931linking, 1876-7931electronic), 2019 Feb 19; 22(3): 273-289.
Impact Factor: 1.547
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Buonanno M, Di Fiore A, Langella E, D’ambrosio K, Supuran CT, Monti SM, De Simone G
* The Crystal Structure of a hCA VII Variant Provides Insights into the Molecular Determinants Responsible for Its Catalytic Behavior (508 views)
Int J Mol Sc (ISSN: 1661-6596, 1422-0067, 1422-0067electronic), 2018 May; 19(6): 19-24.
Impact Factor: 3.687
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Gaglione R, Smaldone G, Di Girolamo R, Piccoli R, Pedone E, Arciello A
* Cell milieu significantly affects the fate of AApoAI amyloidogenic variants: predestination or serendipity? (807 views)
Bba-Gen Subjects (ISSN: 0005-2728, 0006-3002print, 1570-9639print), 2017 Nov 23; 1862(3): 377-384.
Impact Factor: 4.28
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Sacchi S, Cappelletti P, Pirone L, Smaldone G, Pedone E, Pollegioni L
* Elucidating the role of the pLG72 R30K substitution in schizophrenia susceptibility (634 views)
Febs Lett (ISSN: 1873-3468, 0014-5793, 0014-5793print), 2017 Feb; 591(4): 646-655.
Impact Factor: 2.999
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Giorgio SM, Caprio MG, Galante F, Russo G, Romano A, Vergara E, Alessio M, Cuocolo A
* Clinical Value of Perfusion Abnormalities of Brain on Technetium-99m HMPAO Single-Photon Emission Computed Tomography in Children With Sydenham Chorea (364 views) (PDF 173 views)
J Child Neurol (ISSN: 0883-0738), 2016 Dec 05; 32(3): 316-321.
Impact Factor: 1.378
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Cocozza S, Canna A, Lanzillo R, Russo C, Postiglione E, Liuzzi R, Vastola M, Brunetti A, Salvatore M, Brescia Morra V, Palma G, Tedeschi E
* Lack of correlation between extracranial venous abnormalities and multiple sclerosis: a quantitative MRI study (401 views)
The British Institute Of Radiology, 2016 Jun; N/D: N/D-N/D.
Impact Factor: 1.84
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Gandhi S, Mancini M, Marr K, Caprio MG, Jakimovski D, Chandra A, Hagemeier J, Weinstock-guttman B, Zivadinov R
* No association of extra-cranial neous abnormalities and clinical outcomes in multiple sclerosis patients over 5 years (373 views)
6th Annual Meeting Of The International Society For Neurovascular Disease, 2016 Apr; N/D: N/D-N/D.
Impact Factor: 0
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Bilo L, Antenora A, Peluso S, Procaccini EM, Quarantelli M, Mansueto G, Cigoli MS, Penco S, De Michele G
* CCM3/PDCD10 gene mutation in cerebral cavernous malformations associated with hyperkeratotic cutaneous capillary venous malformations (404 views)
J Dermatol (ISSN: 0385-2407, 0385-2407linking), 2016 Feb 20; 43(8): 962-963.
Impact Factor: 2.094
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Vitale R, Lista L, Cerrone C, Caserta G, Chino M, Maglio O, Nastri F, Pavone V, Lombardi A
* An artificial heme-enzyme with enhanced catalytic activity: evolution, functional screening and structural characterization (616 views)
Org Biomol Chem (ISSN: 1477-0520, 1477-0539, 1477-0539electronic), 2015 Apr 22; 13(17): 4859-4868.
Impact Factor: 3.559
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Canna A, Palma G, Tedeschi E, Cocozza S, Lanzillo R, Russo C, Borrelli P, Postiglione E, Liuzzi R, Criscuolo C, Brescia-Morra V, Mancini M, Salvatore M
* ASSESSING THE CORRELATION BETWEEN IRON DEPOSIT IN THE BASAL GANGLIA AND FLOW ABNORMALITIES IN THE NECK VEINS WITH MRI: PRELIMINARY EXPERIENCE (361 views)
Veins And Lymphatics (ISSN: 2279-7483), 2015; 4(s1): 20-21.
Impact Factor: 0
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Bisconte MG, Caldora M, Musollino G, Cardiero G, Flagiello A, La Porta G, Lagona L, Prezioso R, Qualtieri G, Gaudiano C, Medulla E, Merlino A, Pucci P, Lacerra G
* α-thalassemia associated with Hb instability: A tale of two features. The case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→Pro (879 views)
Plosone (ISSN: 1932-6203, 1932-6203electronic, 1932-6203linking), 2015; 10(3): N/D-N/D.
Impact Factor: 3.057
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Assante R, Zampella E, Acampa W, Nappi C, Gaudieri V, Frega N, D'Arienzo D, Tuccillo M, Di Lorenzo P, Buccelli C, Petretta M, Cuocolo A
* Prevalence and severity of myocardial perfusion imaging abnormalities in inmate subjects (826 views)
Plosone (ISSN: 1932-6203, 1932-6203electronic, 1932-6203linking), 2015; 10(7): N/D-N/D.
Impact Factor: 3.057
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Scognamiglio PL, Morelli G, Marasco D
* Synthetic and structural routes for the rational conversion of peptides into small molecules (550 views)
Methods Mol Biol (ISSN: 1064-3745, 1940-6029electronic, 1064-3745linking), 2015; 1268: 159-193.
Impact Factor: 3.221
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Paladini D, Quarantelli M, Sglavo G, Pastore G, Cavallaro A, D'Armiento MR, Salvatore M, Nappi C
* Accuracy of neurosonography and MRI in clinical management of fetuses referred with central nervous system abnormalities (448 views)
Ultrasound Obst Gyn (ISSN: 0960-7692, 1469-0705), 2014 Aug; 44(2): 188-196.
Impact Factor: 3.853
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Olgiati S, De Rosa A, Quadri M, Criscuolo C, Breedveld GJ, Picillo M, Pappata S, Quarantelli M, Barone P, De Michele G, Bonifati V
* Park20 Caused By Synj1 Homozygous Arg258gln Mutation In A New Italian Family (618 views)
Neurogenetics (ISSN: 1364-6745, 1364-6753, 1364-6745linking), 2014 Aug; 15(3): 183-188.
Impact Factor: 2.884
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Bilo L, Peluso S, Antenora A, De Rosa A, Auletta G, Pappata S, De Michele G
* Parkinsonism may be part of the symptom complex of DOOR syndrome (379 views)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2014 Apr; 20(4): 463-465.
Impact Factor: 3.972
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Lin L-L, Chen Y-Y, Chi M-C, Merlino A
* Low resolution X-ray structure of γ-glutamyltranspeptidase from Bacillus licheniformis: Opened active site cleft and a cluster of acid residues potentially involved in the recognition of a metal ion (1042 views)
Bba-Gen Subjects (ISSN: 0925-4439, 0006-3002, 1570-9639), 2014; 1844(9): 1523-1529.
Impact Factor: 4.882
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Paladini D, Quarantelli M, Sglavo G, Pastore G, Cavallaro A, D'Armiento, Salvatore M, Nappi C
* The Role Of Mri In The Clinical Management Of Foetuses With Central Nervous System Abnormalities In A Tertiary Referral Center (414 views)
Ultrasound Obstet Gynecol John Wiley And Sons Ltd, 2013 Nov 1; N/D: 1002/uog-1002/uog.
Impact Factor: 5.694
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Spagnuolo MS, Di Stasi R, De Rosa L, Maresca B, Cigliano L, D'Andrea LD
* Analysis of the haptoglobin binding region on the apolipoprotein A-I-derived P2a peptide (492 views)
J Pept Sci (ISSN: 1075-2617, 1099-1387, 1075-2617print), 2013 Apr; 19(4): 220-226.
Impact Factor: 1.862
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Merlino A, Picone D, Ercole C, Balsamo A, Sica F
* Chain termini cross-talk in the swapping process of bovine pancreatic ribonuclease (456 views)
Biochimie (ISSN: 0300-9084, 1638-6183, 1638-6183electronic), 2012 May; 94(5): 1108-1118.
Impact Factor: 3.142
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Pica A, Russo Krauss I, Castellano I, Rossi M, La Cara F, Graziano G, Sica F, Merlino A
* Exploring The Unfolding Mechanism Of Gamma-Glutamyltranspeptidases: The Case Of The Thermophilic Enzyme From Geobacillus Thermodenitrificans (1242 views)
Bba-Gen Subjects (ISSN: 1570-9639, 0006-3002, 0925-4439), 2012 Apr; 1824(4): 571-577.
Impact Factor: 3.733
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Galdiero S, Vitiello M, Falanga A, Cantisani M, Incoronato N, Galdiero M
* Intracellular Delivery: Exploiting Viral Membranotropic Peptides (1264 views)
Current Drug Metabolism (ISSN: 1389-2002), 2012 Jan; 13(1): 93-104.
Impact Factor: 4.405
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Janda E, Palmieri C, Pisano A, Pontoriero M, Iaccino E, Falcone C, Fiume G, Gaspari M, Nevolo M, Di Salle E, Rossi A, De Laurentiis A, Greco A, Di Napoli D, Verheij E, Britti D, Lavecchia L, Quinto I, Scala G
* Btk regulation in human and mouse B cells via protein kinase C phosphorylation of IBtkγ (690 views)
Blood (ISSN: 0006-4971, 0006-6497, 0390-6078), 2011 Jun 16; 117(24): 6520-6531.
Impact Factor: 9.898
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Acampa W, Di Taranto MD, Morgante A, Salvatore B, Evangelista L, Ricci F, Costanzo P, De Sisto E, Filardi PP, Petretta M, Fortunato G, Cuocolo A
* C-reactive protein levels are associated with paraoxonase polymorphism L55M in patients undergoing cardiac SPECT imaging (608 views)
Scand J Clin Lab Invest (ISSN: 0036-5513, 1502-7686), 2011 May; 71(3): 179-184.
Impact Factor: 1.156
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Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappata S, Di Fonzo A, Oostra BA, Bonifati V
* Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability (470 views)
Neurogenetics (ISSN: 1364-6745, 1364-6753, 1364-6753electronic), 2011 Feb; 12(1): 33-39.
Impact Factor: 3.354
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Gautier B, Goncalves V, Diana D, Di Stasi R, Teillet F, Lenoir C, Huguenot F, Garbay C, Fattorusso R, D'Andrea LD, Vidal M, Inguimbert N
* Biochemical and Structural Analysis of the Binding Determinants of a Vascular Endothelial Growth Factor Receptor Peptidic Antagonist (719 views)
J Med Chem (ISSN: 0022-2623, 1520-4804, 0022-2623print), 2010 Jun 10; 53(11): 4428-4440.
Impact Factor: 5.207
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Alfieri A, Pasanisi F, Salzano S, Esposito L, Martone D, Tafuri D, Daniele A, Contaldo F, Sacchetti L, Zagari A, Buono P
* Functional analysis of melanocortin-4-receptor mutants identified in severely obese subjects living in Southern Italy (538 views)
Gene (ISSN: 0378-1119), 2010 Jun 1; 457(1-2): 35-41.
Impact Factor: 2.266
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Tosco A, Monti MC, Fontanella B, Montefusco S, D'Andrea LD, Ziaco B, Baldantoni D, Rio MC, Marzullo L
* Copper binds the carboxy-terminus of trefoil protein 1 (TFF1), favoring its homodimerization and motogenic activity (6460 views)
Cell Mol Life Sci (ISSN: 1420-9071electronic, 1420-682xlinking), 2010 Jun; 67(11): 1943-1955.
Impact Factor: 7.047
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Capaccio D, Ciccodicola A, Sabatino L, Casamassimi A, Pancione M, Fucci A, Febbraro, Merlino A, Graziano G, Colantuoni V
* A novel germline mutation in Peroxisome Proliferator-Activated Receptor γ gene associated with large intestine polyp formation and dyslipidemia (602 views)
Bba-Gen Subjects (ISSN: 0925-4439, 0006-3002, 1570-9639), 2010; 1802(6): 572-581.
Impact Factor: 2.773
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Palladino P, Ronga L, Benedetti E, Rossi F, Ragone R
* Peptide Fragment Approach to Prion Misfolding: The Alpha-2 Domain (517 views)
Int J Pept Res Ther (ISSN: 1573-3149, 0929-5666), 2009 Sep; 15(3): 165-176.
Impact Factor: 0.869
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Pennacchio A, Esposito L, Zagari A, Rossi M, Raia CA
* Role of Tryptophan 95 in substrate specificity and structural stability of Sulfolobus solfataricus alcohol dehydrogenase (382 views)
Extremophiles (ISSN: 1431-0651, 1433-4909, 1433-4909electronic), 2009 Sep; 13(5): 751-761.
Impact Factor: 2
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Criscuolo C, Filla A, Coppola G, Rinaldi C, Carbone R, Pinto S, Wang Q, De Leva MF, Salvatore E, Banfi S, Brunetti A, Quarantelli M, Geschwind DH, Pappata S, De Michele G
* Two novel CYP7B1 mutations in Italian families with SPG5: A clinical and genetic study (478 views)
J Neurol (ISSN: 0340-5354, 1432-1459, 1432-1459electronic), 2009 Aug; 256(8): 1252-1257.
Impact Factor: 2.903
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Ruggiero I, Cantiello P, Lamberti A, Sorrentino A, Martucci NM, Ruggiero A, Arcone R, Vitagliano L, Arcari P, Masullo M
* Biochemical Characterisation Of The D60a Mutant Of The Elongation Factor 1 Alpha From The Archaeon Sulfolobus Solfataricus (473 views)
Biochimie (ISSN: 0300-9084, 1638-6183, 1638-6183electronic), 2009 Jul; 91(7): 835-842.
Impact Factor: 3.897
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Ierano C, Giuliano P, D'Alterio C, Cioffi M, Mettivier V, Portella L, Napolitano M, Barbieri A, Arra C, Liguori G, Franco R, Palmieri G, Rozzo C, Pacelli R, Castello G, Scala S
* A point mutation (G574A) in the chemokine receptor CXCR4 detected in human cancer cells enhances migration (468 views)
Cell Cycle (ISSN: 1538-4101), 2009 Apr 15; 8(8): 1228-1237.
Impact Factor: 4.087
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Napolitano R, Maruotti GM, Quarantelli M, Martinelli P, Paladini D
* Prenatal diagnosis of Seckel syndrome on 3-dimensional sonography and magnetic resonance imaging (626 views)
J Ultrasound Med (ISSN: 0278-4297, 1550-9613, 0278-4297linking), 2009 Mar; 28(3): 369-374.
Impact Factor: 1.181
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Kaczmarek K, Farina B, Zubrzak P, Jankowski S, Zimecki M, Suder P, Benedetti E, Fattorusso R, Saviano M, Zabrocki J
* Synthesis, conformational analysis and immunological activity of β3Phe-substituted Cyclolinopeptide A analogues (638 views)
J Pept Sci (ISSN: 1075-2617, 1099-1387, 1075-2617print), 2009 Mar; 15(3): 166-174.
Impact Factor: 1.807
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Ronga L, Palladino P, Ragone R, Benedetti E, Rossi F
* A thermodynamic approach to the conformational preferences of the 180-195 segment derived from the human prion protein α2-helix (394 views)
J Pept Sci (ISSN: 1075-2617, 1099-1387, 1075-2617print), 2009; 15(1): 30-35.
Impact Factor: 1.807
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Cigliano L, D'Andrea LD, Maresca B, Serino M, Carlucci A, Salvatore A, Spagnuolo MS, Scigliuolo G, Pedone C, Abrescia P
* Relevance of the amino acid conversions L144R (Zaragoza) and L159P (Zavalla) in the apolipoprotein A-I binding site for haptoglobin (503 views)
Biol Chem Biological Chemistry (ISSN: 1431-6730, 1437-4315), 2008 Nov; 389(11): 1421-1426.
Impact Factor: 3.035
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Galderisi S, Quarantelli M, Volpe U, Mucci A, Cassano GB, Invernizzi G, Rossi A, Vita A, Pini S, Cassano P, Daneluzzo E, De Peri L, Stratta P, Brunetti A, Maj M
* Patterns of structural MRI abnormalities in deficit and nondeficit schizophrenia (728 views) (PDF 214 views)
Schizophr Bull (ISSN: 0586-7614, 1745-1701electronic, 0586-7614linking), 2008 Mar; 34(2): 393-401.
Impact Factor: 6.592
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Goldfine ID, Maddux BA, Youngren JF, Reaven G, Accili D, Trischitta V, Vigneri R, Frittitta L
* The role of membrane glycoprotein plasma cell antigen 1 ectonucleotide pyrophosphatase phosphodiesterase 1 in the pathogenesis of insulin resistance and related abnormalities (1512 views)
Endocrine Reviews (ISSN: 0163-769x), 2008 Feb; 29(1): 62-75.
Impact Factor: 18.562
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Cucinotta V, Giuffrida A, Grasso G, Maccarrone G, Messina M, Vecchio G
* High selectivity in new chiral separations of dansyl amino acids by cyclodextrin derivatives in electrokinetic chromatography (387 views)
J Chromatogr A (ISSN: 0021-9673, 0021-9673linking), 2007; 1155(2): 172-179.
Impact Factor: 3.641
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Paladini D, Sglavo G, Quarantelli M, Vassallo M, Nappi C
* Oc158: Multimodal Diagnostic Flow Chart For Prenatal Characterization Of Cns Abnormalities In A Tertiary Referral Center: The Role Of Mri (460 views)
Ultrasound Obstet Gynecol, 2007; 30: 415-416.
Impact Factor: 4.368
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Menchise V, De Simone G, Di Fiore A, Scozzafava A, Supuran CT
* Carbonic anhydrase inhibitors: X-ray crystallographic studies for the binding of 5-amino-1, 3, 4-thiadiazole-2-sulfonamide and 5-(4-amino-3-chloro-5-fluorophenylsulfonamido)1, 3, 4-thiadiazole-2-sulfon amide to human isoform II (393 views)
Bioorganic & Medicinal Chemistry Letters (ISSN: 0960-894x), 2006 Dec 15; 16(24): 6204-6208.
Impact Factor: 2.538
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Pailot A, D'Ambrosio K, Corbier C, Talfournier F, Branlant G
* Invariant Thr(244) is essential for the efficient acylation step of the non-phosphorylating glyceraldehyde-3-phosphate dehydrogenase from Streptococcus mutans (452 views)
Biochem J (ISSN: 0264-6021, 1470-8728electronic, 0264-6021linking), 2006 Dec 15; 400: 521-530.
Impact Factor: 4.1
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Del Giudice E, Bianchi MC, Tosetti M, Varrone A, Romano A, Crisanti AF, Titomanlio L, Imperati F
* Taylor-type focal cortical dysplasia: is the epilepsy always resistant to medical treatment? (727 views)
Epileptic Disord (ISSN: 1294-9361), 2006 Dec; 8(4): 289-293.
Impact Factor: 1.202
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Berisio R, Corti N, Pfister P, Yonath A, Böttger EC
* 23S rRNA 2058A→G alteration mediates ketolide resistance in combination with deletion in L22 (783 views)
Antimicrob Agents Ch (ISSN: 0066-4804, 1098-6596), 2006 Nov; 50(11): 3816-3823.
Impact Factor: 4.153
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Santamaria F, Montella S, Camera L, Palumbo C, Greco L, Boner AL
* Lung structure abnormalities, but normal lung function in pediatric bronchiectasis (514 views)
Chest (ISSN: 0012-3692), 2006 Sep; 130(2): 480-486.
Impact Factor: 3.924
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Volpe P, Paladini D, Resta M, Stanziano A, Salvatore M, Quarantelli M, De Robertis V, Buonadonna AL, Caruso G, Gentile M
* Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus (600 views)
Ultrasound Obst Gyn (ISSN: 0960-7692, 1469-0705), 2006 May; 27(5): 509-516.
Impact Factor: 2.288
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Fiory F, Alberobello AT, Miele C, Oriente F, Esposito I, Corbo V, Ruvo M, Tizzano B, Rasmussen TE, Gammeltoft S, Formisano P, Beguinot F
* Tyrosine phosphorylation of phosphoinositide-dependent kinase 1 by the insulin receptor is necessary for insulin metabolic signaling (542 views)
Mol Cell Biol (ISSN: 0270-7306, 1098-5549), 2005 Dec; 25(24): 10803-10814.
Impact Factor: 7.093
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Criscuolo C, Mancini P, Menchise V, Sacca F, De Michele G, Banfi S, Filla A
* Very late onset in ataxia oculomotor apraxia type I [1] (394 views)
Ann Neurol (ISSN: 0364-5134), 2005 May; 57(5): 777-777.
Impact Factor: 7.571
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Picone D, Di Fiore A, Ercole C, Franzese M, Sica F, Tomaselli S, Mazzarella L
* The role of the hinge loop in domain swapping - The special case of bovine seminal ribonuclease (608 views)
Jbc Papers (ISSN: 0021-9258, 1083-351x, 0021-9258linking), 2005 Apr 8; 280(14): 13771-13778.
Impact Factor: 5.854
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Esposito G, Vitagliano L, Cevenini A, Amelio T, Zagari A, Salvatore F
* Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child (835 views)
Haematologica (ISSN: 0006-4971, 0006-6497, 0390-6078), 2005 Jan 15; 105(2): 905-906.
Impact Factor: 10.131
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Langella E, Improta R, Barone V
* Checking the pH-induced conformational transition of prion protein by molecular dynamics simulations: Effect of protonation of histidine residues (646 views)
Biophysical Journal (ISSN: 0006-3495, 1542-0086), 2004 Dec; 87(6): 3623-3632.
Impact Factor: 4.585
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Esposito G, Vitagliano L, Costanzo P, Borrelli L, Barone R, Pavone L, Izzo P, Zagari A, Salvatore F
* Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function (504 views)
Biochem J (ISSN: 0264-6021, 1470-8728electronic, 0264-6021linking), 2004 May 15; 380: 51-56.
Impact Factor: 4.278
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Milardi D, Grasso DM, Verbeet MP, Canters GW, La Rosa C
* Thermodynamic analysis of the contributions of the copper ion and the disulfide bridge to azurin stability: Synergism among multiple depletions (481 views)
Arch Bioch Bioph (ISSN: 0003-9861, 0003-9861linking), 2003 Jun 1; 414(1): 121-127.
Impact Factor: 2.338
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Dathan N, Zaccaro L, Esposito S, Isernia C, Omichinski JG, Riccio A, Pedone C, Di Blasio B, Fattorusso R, Pedone PV
* The Arabidopsis SUPERMAN protein is able to specifically bind DNA through its single Cys(2)-His(2) zinc finger motif (1316 views)
Nucleic Acids Res (ISSN: 0305-1048, 1362-4962, 1362-4962electronic), 2002 Nov 15; 30(22): 4945-4951.
Impact Factor: 7.051
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Rossi M, Manfredi V, Ruvo M, Fassina G, Verdoliva A
* Sequence-simplification and chimeric assembly: New models of peptide antigen modification (502 views)
Mol Immunol (ISSN: 0161-5890), 2002 Nov; 39(7-8): 443-451.
Impact Factor: 2.414
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Masullo M, Cantiello P, Paola B, Fiengo A, Vitagliano L, Zagari A, Arcari P
* Valine114 Replacements In The Archaeal Elongation Factor 1a Enhanced Its Ability To Interact With Aminoacyl-Trna And Kirromycin (468 views)
Biochemistry (ISSN: 0006-2960, 1520-4995, 1520-4995electronic), 2002; 41(49): 14482-14488.
Impact Factor: 4.064
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De Falco S, Ruvoletto MG, Verdoliva A, Ruvo M, Raucci A, Marino M, Senatore S, Cassani G, Alberti A, Pontisso P, Fassina G
* Cloning and Expression of a Novel Hepatitis B Virus-binding Protein from HepG2 Cells (847 views)
Jbc Papers (ISSN: 0021-9258, 1083-351x, 0021-9258linking), 2001 Sep 28; 276(39): 36613-36623.
Impact Factor: 7.258
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Orru S, Vitagliano L, Esposito L, Mazzarella L, Marino G, Ruoppolo M
Effect of deamidation on folding of ribonuclease (530 views)
Protein Sci (ISSN: 0961-8368, 1469-896xelectronic), 2000 Dec; 9(12): 2577-2582.
Impact Factor: 3.869
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Oliva R, Falcigno L, D'Auria G, Zanotti G, Paolillo L
Conformation and calcium-binding properties of a bicyclic nonapeptide (530 views)
Biopolymers (ISSN: 0006-3525, 0006-6352, 0006-3525print), 2000; 56(1): 27-36.
Impact Factor: 2.405
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Martínez JC, Viguera AR, Berisio R, Wilmanns M, Mateo PL, Filimonov VV, Serrano L
Thermodynamic analysis of α-spectrin SH3 and two of its circular permutants with different loop lengths: Discerning the reasons for rapid folding in proteins (1498 views)
Biochemistry (ISSN: 0006-2960, 1520-4995, 1520-4995electronic), 1999 Jan 12; 38(2): 549-559.
Impact Factor: 4.493
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Capasso S, Di Donato A, Esposito L, Sica F, Sorrentino G, Vitagliano L, Zagari A, Mazzarella L
Deamidation in proteins: The crystal structure of bovine pancreatic ribonuclease with an isoaspartyl residue at position 67 (636 views)
J Mol Biol (ISSN: 0022-2836, 1089-8638, 1089-8638electronic), 1996; 257(3): 492-496.
Impact Factor: 5.673
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Lastoria S, Piccolo S, Varrella P, Acampa W, Mainolfi C, Vergara E, Wang H, Muto P, Salvatore M
Comparative results of Tc-99m MIBI and Tc-99m MDP scintimammography in patients with breast abnormalities (292 views)
J Nucl Med (ISSN: 0161-5505, 1535-5667, 1535-5667electronic), 1995; 36(5SUPPL.): N/D-N/D.
Impact Factor: 3.491
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d'Onofrio G, Salvati AM, Berti P, Cappabianca MP, Marsili G, Quarantelli M, Zini G, Casini C, De Philippis C, Mango G
Analysis of leucocyte populations with the Coulter S-Plus STKR as a screening tool for haematological abnormalities (614 views)
Clin Lab Haematol (ISSN: 0141-9854), 1991; 13(1): 51-66.
Impact Factor: 0.362
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67 Records (62 excluding Abstracts).
Total impact factor: 256.71 (239.954 excluding Abstracts).
Total 5 year impact factor: 264.993 (241.832 excluding Abstracts).
Total impact factor: 256.71 (239.954 excluding Abstracts).
Total 5 year impact factor: 264.993 (241.832 excluding Abstracts).
296 views. Last view on Sunday 01 December 2024, 4:02:35
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