User profiles for "author:Alessandro Stella"
alessandro StellaUniversità di Bari Verified email at uniba.it Cited by 2225 |
[HTML][HTML] Renal cell carcinoma as a metabolic disease: an update on main pathways, potential biomarkers, and therapeutic targets
NA di Meo, F Lasorsa, M Rutigliano, D Loizzo… - International Journal of …, 2022 - mdpi.com
Clear cell renal cell carcinoma (ccRCC) is the most frequent histological kidney cancer
subtype. Over the last decade, significant progress has been made in identifying the genetic …
subtype. Over the last decade, significant progress has been made in identifying the genetic …
[HTML][HTML] Metabolomic approaches for detection and identification of biomarkers and altered pathways in bladder cancer
NA di Meo, D Loizzo, SD Pandolfo, R Autorino… - International Journal of …, 2022 - mdpi.com
Metabolomic analysis has proven to be a useful tool in biomarker discovery and the
molecular classification of cancers. In order to find new biomarkers, and to better understand …
molecular classification of cancers. In order to find new biomarkers, and to better understand …
[HTML][HTML] Novel insights into autophagy and prostate cancer: a comprehensive review
D Loizzo, SD Pandolfo, D Rogers, C Cerrato… - International Journal of …, 2022 - mdpi.com
Autophagy is a complex process involved in several cell activities, including tissue growth,
differentiation, metabolic modulation, and cancer development. In prostate cancer …
differentiation, metabolic modulation, and cancer development. In prostate cancer …
Cancer risk associated with STK11/LKB1 germline mutations in Peutz–Jeghers syndrome patients: Results of an Italian multicenter study
N Resta, D Pierannunzio, GM Lenato, A Stella… - Digestive and Liver …, 2013 - Elsevier
BACKGROUND: Germline mutations in the STK11/LKB1 gene cause Peutz–Jeghers
syndrome, an autosomal-dominantly inherited condition characterized by mucocutaneous …
syndrome, an autosomal-dominantly inherited condition characterized by mucocutaneous …
[HTML][HTML] A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study
P Pierucci, GM Lenato, P Suppressa, P Lastella… - Orphanet Journal of …, 2012 - Springer
Background The difficulty in establishing a timely correct diagnosis is a relevant matter of
concern for several rare diseases. Many rare-disease-affected patients suffer from …
concern for several rare diseases. Many rare-disease-affected patients suffer from …
Laminin α2 muscular dystrophy: genotype/phenotype studies of 22 patients
E Pegoraro, H Marks, CA Garcia, T Crawford… - Neurology, 1998 - AAN Enterprises
Objective: To determine the number of primary laminin α2 gene mutations and to conduct
genotype/phenotype correlation in a cohort of lamininα2-deficient congenital muscular …
genotype/phenotype correlation in a cohort of lamininα2-deficient congenital muscular …
[HTML][HTML] Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on …
DC Loconte, V Grossi, C Bozzao, G Forte, R Bagnulo… - PloS one, 2015 - journals.plos.org
Background PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that
affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like …
affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like …
Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever
H Van Gorp, L Huang, P Saavedra… - Annals of the …, 2020 - ard.bmj.com
Background and objective Familial Mediterranean fever (FMF) is the most common
monogenic autoinflammatory disease (AID) worldwide. The disease is caused by mutations …
monogenic autoinflammatory disease (AID) worldwide. The disease is caused by mutations …
Distinguishing between recent balancing selection and incomplete sweep using deep neural networks
Balancing selection is an important adaptive mechanism underpinning a wide range of
phenotypes. Despite its relevance, the detection of recent balancing selection from genomic …
phenotypes. Despite its relevance, the detection of recent balancing selection from genomic …
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites
ML Hastings, N Resta, D Traum, A Stella… - Nature structural & …, 2005 - nature.com
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder associated with
gastrointestinal polyposis and an increased cancer risk. PJS is caused by germline …
gastrointestinal polyposis and an increased cancer risk. PJS is caused by germline …