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Investigational agents for autosomal dominant polycystic kidney disease: preclinical and early phase study insights

Introduction: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited kidney condition caused by a single-gene mutation. It leads patients to kidney failure in more than 50% of cases by the age of 60, and, given the dominant inheritance, this disease is present in the family history in more than 90% of cases. Areas covered: This review aims to analyze the set of preclinical and early-phase studies to provide a general view of the current progress on ADPKD therapeutic...

DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a late-onset cilia-related disorder, characterized by progressive cystic enlargement of the kidneys. It is genetically heterogeneous with PKD1 and PKD2 pathogenic variants identified in approximately 78% and 15% of families, respectively. More recently, additional ADPKD genes, such as DNAJB11, have been identified and included in the diagnostic routine test for renal cystic diseases. However, despite recent progress in ADPKD molecular ap...

Fabry disease: a rare disorder calling for personalized medicine

Fabry Disease (FD) is a genetic disease caused by a deficiency in the activity of lysosomal galactosidase A (α-GalA), an enzyme responsible for the catabolism of globotriaosylceramide (Gb3). Since lysosomes are present throughout the body and play a crucial role in catabolism and recycling of cytosolic compounds, FD can affect multiple organs and result in various symptoms, including renal, cardiovascular, neurological, cutaneous, and ophthalmic manifestations. Due to the nonspecific symptoms...

Association between Albumin Alterations and Renal Function in Patients with Type 2 Diabetes Mellitus

Diabetic kidney disease (DKD) is a major cause of morbidity and mortality in individuals with type 2 diabetes mellitus (T2DM). The aim of this study was to investigate whether albumin structural alterations correlate with DKD severity and evaluate whether native and reduced albumin concentrations could complement the diagnosis of DKD. To this end, one hundred and seventeen T2DM patients without (n = 42) and with (n = 75) DKD (DKD I-III upon KDIGO classification) were evaluated; the total albu...

Review of the design fatigue strength for steel butt welded joints: influence of geometrical factors and shape defects

This paper focuses on butt weldment made of steel under cyclic tensile loading. It aims to take advantage of the local stress methods and to summarise main outcomes in a reformulation of influencing factors as a contribution for upcoming design guidelines.

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Tipologia
  • 03 Contributo in rivista (Pubblic...64057
  • 04 Atto di Convegno (Proceedings)19970
  • 02 Contributo in volume14718
  • 08 Attività collegate alla Ricerca2762
  • 01 Libro2715
  • 07 Altre tipologie di prodotti2671
  • 10 Tesi2050
  • 05 Curatela1184
  • 06 Brevetto439
Autore
  • CALABRESE, Roberto1427
  • LUPPI, Eleonora1373
  • GARZIA, Isabella812
  • FIORINI, Massimiliano806
  • PAPPALARDO, Luciano Libero793
  • GAMBARI, Roberto770
  • TOMASSETTI, Luca766
  • GUIDI, Vincenzo718
  • PERESANI, Marco670
  • PAPI, Alberto666
Data di pubblicazione
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  • 2020 - 202623982
  • 2010 - 201941642
  • 2000 - 200930319
  • 1990 - 199910802
  • 1980 - 19893156
  • 1970 - 1979482
  • 1965 - 196917
Editore
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  • IEEE731
  • Springer525
  • CEDAM472
  • Giappichelli471
  • Franco Angeli417
  • Cedam378
  • Institute of Electrical and Elect...361
  • Elsevier324
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  • PHYSICAL REVIEW LETTERS638
  • PAESAGGIO URBANO542
  • ASTRONOMY & ASTROPHYSICS491
  • PHYSICAL REVIEW D, PARTICLES, FIE...481
  • PHYSICAL REVIEW D470
  • JOURNAL OF HIGH ENERGY PHYSICS386
  • PLOS ONE323
  • THE ASTROPHYSICAL JOURNAL311
  • PHYSICS LETTERS. SECTION B309
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  • LECTURE NOTES IN COMPUTER SCIENCE110
  • CEUR WORKSHOP PROCEEDINGS73
  • OBSERVATORY OF THE MEDITERRANEAN ...56
  • QUADERNI DEM52
  • UNIFESTUM46
  • PROCEEDINGS OF SPIE, THE INTERNAT...42
  • DIPARTIMENTO DI GIURISPRUDENZA DE...38
  • TERRE DI FRONTIERA34
  • ADVANCES IN INTELLIGENT SYSTEMS A...30
Settore disciplinare
  • Settore FIS/01 - Fisica Sperimentale53
  • Settore ICAR/12 - Tecnologia dell...44
  • Settore BIO/09 - Fisiologia32
  • Settore L-ANT/01 - Preistoria e P...32
  • Settore BIO/14 - Farmacologia31
  • Settore BIO/14 - Farmacologia30
  • Settore FIS/01 - Fisica Sperimentale30
  • Settore ING-INF/01 - Elettronica30
  • Settore BIO/10 - Biochimica24
  • Settore MED/04 - Patologia Generale24
Keyword
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  • Female969
  • Male890
  • Italy681
  • Middle Aged602
  • Aged550
  • COVID-19529
  • Adult501
  • educazione382
  • Ferrara373
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  • por129
  • alb49
  • grc26
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