Lucia Anna Muscarella

Summary

Affiliation: San Giovanni Rotondo
Country: Italy

Publications

  1. ncbi request reprint Supratentorial cerebral cavernous malformations: clinical, surgical, and genetic involvement
    Vincenzo Antonio D'Angelo
    Neurosurgical Operative Unit, Neuromed Institute, Medical Genetic Service, Pathology Service, and Radiology Service, Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy
    Neurosurg Focus 21:e9. 2006
  2. pmc FOXP1 and TP63 involvement in the progression of myelodysplastic syndrome with 5q- and additional cytogenetic abnormalities
    Alberto L'Abbate
    Department of Biology, University of Bari, Via G, Amendola 165 A, Bari 70126, Italy
    BMC Cancer 14:396. 2014
  3. pmc Small deletion at the 7q21.2 locus in a CCM family detected by real-time quantitative PCR
    Lucia Anna Muscarella
    Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo FG, Italy
    J Biomed Biotechnol 2010:. 2010
  4. doi request reprint VHL gene alterations in Italian patients with isolated renal cell carcinomas
    Lucia Anna Muscarella
    Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Foggia, Italy
    Int J Biol Markers 28:208-15. 2013
  5. pmc Candidate gene study of HOXB1 in autism spectrum disorder
    Lucia A Muscarella
    Medical Genetics Service, IRCCS Casa Sollievo dalla Sofferenza, San Giovanni Rotondo, FG, Italy
    Mol Autism 1:9. 2010
  6. ncbi request reprint Frequent epigenetics inactivation of KEAP1 gene in non-small cell lung cancer
    Lucia Anna Muscarella
    Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo FG, Italy
    Epigenetics 6:710-9. 2011
  7. doi request reprint Gene expression of somatostatin receptor subtypes SSTR2a, SSTR3 and SSTR5 in peripheral blood of neuroendocrine lung cancer affected patients
    Lucia Anna Muscarella
    Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Foggia, Italy
    Cell Oncol (Dordr) 34:435-41. 2011
  8. ncbi request reprint Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis
    Lucia Anna Muscarella
    Medical Genetics Service, IRCCS Casa Sollievo della Sofferenza Hospital, Poliambulatorio Giovanni Paolo II, Viale Padre Pio, San Giovanni Rotondo FG, Italy
    Biomol Eng 24:231-6. 2007
  9. pmc Aberrant Keap1 methylation in breast cancer and association with clinicopathological features
    Raffaela Barbano
    Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
    Epigenetics 8:105-12. 2013
  10. doi request reprint CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort
    Vito Guarnieri
    Genetics Unit, Ospedale Casa Sollievo della Sofferenza, Istituto di Ricovero e Cura a Carattere Scientifico, San Giovanni Rotondo, Foggia, Italy
    Cell Oncol (Dordr) 35:411-22. 2012

Collaborators

Detail Information

Publications27

  1. ncbi request reprint Supratentorial cerebral cavernous malformations: clinical, surgical, and genetic involvement
    Vincenzo Antonio D'Angelo
    Neurosurgical Operative Unit, Neuromed Institute, Medical Genetic Service, Pathology Service, and Radiology Service, Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy
    Neurosurg Focus 21:e9. 2006
    ..Thus, the objective of this study was to develop, based on the authors' experience and a literature review, a management algorithm to deal with supratentorial cerebral CMs...
  2. pmc FOXP1 and TP63 involvement in the progression of myelodysplastic syndrome with 5q- and additional cytogenetic abnormalities
    Alberto L'Abbate
    Department of Biology, University of Bari, Via G, Amendola 165 A, Bari 70126, Italy
    BMC Cancer 14:396. 2014
    ..Single additional alterations to del(5q) by balanced chromosome rearrangements were rarely found in myelodysplasia. In particular, balanced alterations involving TP63 and FOXP1 genes were never reported in the literature...
  3. pmc Small deletion at the 7q21.2 locus in a CCM family detected by real-time quantitative PCR
    Lucia Anna Muscarella
    Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo FG, Italy
    J Biomed Biotechnol 2010:. 2010
    ..Moreover, our investigations highlight the usefulness of the RT-QPCR to the molecular characterization of the breakpoints genomic deletions and to the identification of internal deleted genes involved in the human genetic diseases...
  4. doi request reprint VHL gene alterations in Italian patients with isolated renal cell carcinomas
    Lucia Anna Muscarella
    Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Foggia, Italy
    Int J Biol Markers 28:208-15. 2013
    ....
  5. pmc Candidate gene study of HOXB1 in autism spectrum disorder
    Lucia A Muscarella
    Medical Genetics Service, IRCCS Casa Sollievo dalla Sofferenza, San Giovanni Rotondo, FG, Italy
    Mol Autism 1:9. 2010
    ..An initial report, suggesting that HOXB1 could confer autism vulnerability in interaction with HOXA1, was not confirmed by five small association studies...
  6. ncbi request reprint Frequent epigenetics inactivation of KEAP1 gene in non-small cell lung cancer
    Lucia Anna Muscarella
    Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo FG, Italy
    Epigenetics 6:710-9. 2011
    ..In addition identifying patients with KEAP1 genetic and epigenetic abnormalities may contribute to disease progression prediction and response to therapy in lung cancer patients...
  7. doi request reprint Gene expression of somatostatin receptor subtypes SSTR2a, SSTR3 and SSTR5 in peripheral blood of neuroendocrine lung cancer affected patients
    Lucia Anna Muscarella
    Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Foggia, Italy
    Cell Oncol (Dordr) 34:435-41. 2011
    ..Moreover, previous studies reported that expression of mRNA for SSTR2a correlated with therapeutic outcome in patients with carcinoid tumours treated with somatostatin analogs...
  8. ncbi request reprint Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis
    Lucia Anna Muscarella
    Medical Genetics Service, IRCCS Casa Sollievo della Sofferenza Hospital, Poliambulatorio Giovanni Paolo II, Viale Padre Pio, San Giovanni Rotondo FG, Italy
    Biomol Eng 24:231-6. 2007
    ..Using this new protocol of biplex exons DHPLC screening, new mutations were identified in four male patients affected by DMD who had tested negative for large DNA rearrangements...
  9. pmc Aberrant Keap1 methylation in breast cancer and association with clinicopathological features
    Raffaela Barbano
    Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
    Epigenetics 8:105-12. 2013
    ..In addition, identifying patients with KEAP1 epigenetic abnormalities may contribute to disease progression prediction in breast cancer patients...
  10. doi request reprint CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort
    Vito Guarnieri
    Genetics Unit, Ospedale Casa Sollievo della Sofferenza, Istituto di Ricovero e Cura a Carattere Scientifico, San Giovanni Rotondo, Foggia, Italy
    Cell Oncol (Dordr) 35:411-22. 2012
    ....
  11. doi request reprint Molecular analysis of the HuD gene in neuroendocrine lung cancers
    Vito D'Alessandro
    Department of Internal Medicine, IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo FG, Italy
    Lung Cancer 67:69-75. 2010
    ..Our results on SCLC and carcinoid tissues support the hypothesis that alterations of nELAV genes could be involved in the onset and/or progression of a subset of neuroendocrine lung tumors...
  12. doi request reprint Aberrant genes promoter methylation in neural crest-derived tumors
    Annamaria la Torre
    Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Foggia, Italy
    Int J Biol Markers 27:e389-94. 2012
    ..MCAM methylation levels were significantly higher in lung carcinoids tumors (p=0.001), suggesting that this alteration may represent a molecular biomarker in this tumor type...
  13. pmc Regulation of KEAP1 expression by promoter methylation in malignant gliomas and association with patient's outcome
    Lucia Anna Muscarella
    Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
    Epigenetics 6:317-25. 2011
    ..54, 95% CI 1.35-22.74). Our results further suggest that KEAP1 expression is epigenetically regulated. In addition we demonstrated that KEAP1 is frequently methylated in malignant gliomas and a predictor of patient's outcome...
  14. ncbi request reprint Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance
    Vito Guarnieri
    Unit of Endocrinology, Casa Sollievo della Sofferenza Hospital, Instituto di Ricovero e Cura a Carattere Scientifico, 71013 San Giovanni Rotondo FG, Italy
    J Clin Endocrinol Metab 91:2827-32. 2006
    ..Mutations of the HRPT2 gene have recently been implicated in the development of parathyroid carcinoma...
  15. ncbi request reprint An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma
    Lucia Anna Muscarella
    Servizio Genetica Medica, IRCCS Casa Sollievo della Sofferenza, Poliambulatorio Giovanni Paolo II, Viale Padre Pio, 71013, San Giovanni Rotondo, Italy
    J Hum Genet 52:485-91. 2007
    ..We propose that these molecular events, through a loss of pVHL function, lead to the onset of the VHL-related tumours in that individual...
  16. ncbi request reprint Hemangioblastomas of central nervous system: molecular genetic analysis and clinical management
    Domenico Catapano
    Casa Sollievo della Sofferenza Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, San Giovanni Rotondo, Italy
    Neurosurgery 56:1215-21; discussion 1221. 2005
    ....
  17. pmc Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene
    Valerio Pazienza
    Gastroenterology, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo FG, Italy
    PLoS ONE 8:e82292. 2013
    ....
  18. pmc Molecular detection of neuron-specific ELAV-like-positive cells in the peripheral blood of patients with small-cell lung cancer
    Vito D'Alessandro
    Internal Medicine Department, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo FG, Italy
    Cell Oncol 30:291-7. 2008
    ..The aim of this study is to develop a sensitive and quantitative molecular real-time PCR assay to detect SCLC cells in peripheral blood (PB) through nELAV-like transcripts quantification...
  19. doi request reprint Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family
    Sandra Mastroianno
    Unit of Cardiology, Scientific Institute Casa Sollievo della Sofferenza, 71013, San Giovanni Rotondo, Italy
    Endocrine 40:481-5. 2011
    ....
  20. doi request reprint Establishment and genetic characterization of ANGM-CSS, a novel, immortal cell line derived from a human glioblastoma multiforme
    Angelantonio Notarangelo
    Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, I 71013 San Giovanni Rotondo FG, Italy
    Int J Oncol 44:717-24. 2014
    ..ANGM-CSS represents a biologically relevant cell line to be used to investigate the molecular pathology of glioblastoma multiforme, also to evaluate the efficacy of novel therapeutic drugs in vitro...
  21. doi request reprint High RAD51 mRNA expression characterize estrogen receptor-positive/progesteron receptor-negative breast cancer and is associated with patient's outcome
    Raffaela Barbano
    Laboratory of Oncology, Research Department, Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy
    Int J Cancer 129:536-45. 2011
    ..Our results suggest that RAD51 expression determination could contribute to a better molecular classification of mammary tumors and may represent a novel tool for evaluating postoperative adjuvant therapy for breast cancer patients...
  22. ncbi request reprint Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis
    Filippo Aucella
    Department of Nephrology and Dialysis, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy
    Nephron Clin Pract 99:c31-6. 2005
    ..NPHS2 may be also responsible for some sporadic cases. The role of NPHS2 and ACTN4 in the adult sporadic form of the disease is being clarifying...
  23. ncbi request reprint HOXA1 gene variants influence head growth rates in humans
    Lucia Anna Muscarella
    Medical Genetics Service, I R C C S Casa Sollievo dalla Sofferenza, S Giovanni Rotondo, Foggia, Italy
    Am J Med Genet B Neuropsychiatr Genet 144:388-90. 2007
    ..This influence does not differ between normal and autistic children, whereas the lack of FMRP seemingly overwhelms HOXA1 effects in fragile-X patients...
  24. pmc Nrf2 and Notch Signaling in Lung Cancer: Near the Crossroad
    Angelo Sparaneo
    Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy
    Oxid Med Cell Longev 2016:7316492. 2016
    ....
  25. doi request reprint keap1/nrf2 pathway in kidney cancer: frequent methylation of keap1 gene promoter in clear renal cell carcinoma
    Federico Pio Fabrizio
    Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy
    Oncotarget . 2017
    ....
  26. doi request reprint Alteration of hypothalamic-pituitary-thyroid axis function in non-small-cell lung cancer patients
    Gianluigi Mazzoccoli
    Scientific Institute and Regional General Hospital Casa Sollievo della Sofferenza, San Giovanni Rotondo FG, Italy
    Integr Cancer Ther 11:327-36. 2012
    ..When compared with healthy controls, cancer patients showed modifications of hormone serum levels overall and a negative correlation between individual TRH and FT4 levels...
  27. ncbi request reprint Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor
    Alfredo Scillitani
    Unit of Endocrinology, Hospital Casa Sollievo della Sofferenza, Istituto di Ricovero e Cura a Carattere Scientifico, Viale dei Cappuccini, 71013 San Giovanni Rotondo FG, Italy
    J Clin Endocrinol Metab 89:5634-8. 2004
    ..Given the significant between-population variations in frequency of variant alleles in this CASR SNP cluster, tri-locus haplotyping may prove to be more informative in studies of association between variation in CASR and disease...