User profiles for "author:Alessandro Stella"

alessandro Stella

Università 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 …

[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 …

[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 …

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 …

[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 …

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 …

[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 …

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 …

Distinguishing between recent balancing selection and incomplete sweep using deep neural networks

U Isildak, A Stella, M Fumagalli - Molecular Ecology Resources, 2021 - Wiley Online Library
Balancing selection is an important adaptive mechanism underpinning a wide range of
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 …