Dott.ssa Monica Mencarelli

1992
Maturità Linguistica (60/60) presso il Liceo Scientifico Sperimentale ad indirizzo linguistico moderno G. Spezia, Domodossola.

1999
Laurea in Scienze Biologiche (103/110) presso l'Università degli Studi di Milano.

2000
Esame di Stato Ordine Professionale dei Biologi.

2000 - 2004
Scuola di specializzazione in Genetica Medica (70/70 lode) presso l'Università degli Studi di Milano, facoltà di Medicina e Chirurgia.

2008 - 2009
Abilitazione all’esecuzione di prelievo venoso (Università di Torino).

• Biologia Molecolare e genetica NGS per patologie Neurogenetiche (Parkinson, Amiloidosi, CADASIL, SLA, FTD)
• Obesità Sindromiche e Monogeniche
• Diabete MODY
• Dislipidemie

• Obesità
• Patologie neurodegenerative

Pubblicazioni:

• “Phenotypes Associated With MEN1 Syndrome: A Focus on Genotype-Phenotype Correlations” Mele C, Mencarelli M,  Caputo M,  Mai S,  Pagano L,  Aimaretti G,  Scacchi M,  Falchetti A,  Marzullo P. Front Endocrinol (Lausanne) 2020 Nov 18;11:591501.
• “Epigenome Wide Association and Stochastic Epigenetic Mutation Analysis on Cord Blood of Preterm Birth” Spada E, Calzari L, Corsaro L, Fazia T, Mencarelli M, Di Blasio AM, Bernardinelli L, Zangheri G, Vignali M, Gentilini D. Int J Mol Sci. 2020 Jul 17;21(14):5044
• “Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation.” Pradotto L, Mencarelli M, Bigoni M, Milesi A, Di Blasio A, Mauro A. J Neurol Sci. 2016 Dec 15;371:81-84. doi: 10.1016/j.jns.2016.10.029. Epub 2016 Oct 19.
• “Recurrent transient global amnesia as presenting symptoms of CADASIL.” Pradotto L, Orsi L, Mencarelli M, Caglio M, Lauro D, Milesi A, Di Blasio A, Mauro A. Clin Case Rep. 2016 Sep 28;4(11):1045-1048. eCollection 2016 Nov.
• “Permanence of molecular features of obesity in subcutaneous adipose tissue of ex-obese subjects.”Cancello R, Zulian A, Gentilini D, Mencarelli M, Della Barba A, Maffei M, Vitti P, Invitti C, Liuzzi A, Di Blasio AM. Int J Obes (Lond). 2013 Feb 12. 
• “A novel missense mutation in the signal peptide of the human POMC gene: a possible additional link between early-onset type 2 diabetes and obesity M. Mencarelli, A. Zulian, R. Cancello, L. Alberti, L. Gilardini, A.M. Di Blasio and C. Invitti. EJHG, Eur J Hum Genet ,2012 May 30
• “The nicotinic acetylcholine receptor α7 in subcutaneous mature adipocytes: downregulation in human obesity and modulation by diet-induced weight loss.” Cancello R, Zulian A, Maestrini S, Mencarelli M, Della Barba A, Invitti C, Liuzzi A, Di Blasio AM. Int J Obes (Lond). 2012 Jan 24.
• “Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity. Mencarelli M, Dubern B, Alili R, Maestrini S, Benajiba L, Tagliaferri M, Galan P, Rinaldi M, Simon C, Tounian P, Hercberg S, Liuzzi A, Di Blasio AM, Clement K. Hum Mol Genet. 2011 Jan 15;20(2):392-9. Epub 2010 Nov 3. PubMed PMID: 21047972.
• “Angiotensin converting enzyme insertion/deletion polymorphism is related to pressor response to high altitude hypoxia. Results of highcare project: pp.21.330 “M Revera, G Bilo, A Giuliano, G Caldara, G Savia, V Mainini, M Mencarelli, L Piccinno, AM Di Blasio, A Piperno, A Liuzzi, G Mancia Journal of Hypertension - J HYPERTENSION. 01/2010; 28.
• “Combined evaluation of resting IGF-I, N-terminal propeptide of type III procollagen (PIIINP) and C-terminal cross-linked telopeptide of type I collagen (ICTP) levels might be useful for detecting inappropriate GH administration in female athletes.” Di Luigi L, Rigamonti A, Agosti F, Mencarelli M, Sgro' P, Marazzi N, Cella S, Muller E, Sartorio A Md. Eur. J. Endocrinol 2009 Mar 3 [Epub ahead of print].
• “Unexpected endocrine features and normal pigmentation in a young adult patient carrying a novel homozygous mutation in the POMC gene.” Clément K, Dubern B, Mencarelli M, Czernichow P, Ito S, Wakamatsu K, Barsh G, Vaisse C, Leger J.J Clin Endocrinol Metab. 2008 Sep 2. [Epub ahead of print].
• “Sporadic mutations in melanocortin 3 receptor in morbidly obese individuals”. Mencarelli M, Walker GE, Maestrini S, Alberti L, Verti B,  Brunani A, Petroni ML , Tagliaferri M, Liuzzi A and Di Blasio AM. European Journal of Human Genetics, 2008 Jan 30, 1-6.
• “Mutational Analysis of the Pro-opiomelanocortin Gene in French Obese Children Led to the Identification of a Novel Deleterious Heterozygous Mutation Located in the α-Melanocyte Stimulating Hormone Domain“ Dubern B, Lubrano-Berthelier C, Mencarelli M, Ersoy B, Frelut ML, Bouglé D, Simon C, Costes B, Tounian P, Vaisse C, Clement K. Pediatric Research, Vol. 63, No. 2, 2008.
• “Deep sub-cutaneous adipose tissue (dSAT): a distinct abdominal adipose depot” Walker GE, Verti B, Marzullo P, Savia G, Mencarelli M, Zurleni F, Liuzzi A, Di Blasio AM Obesity (Silver Spring). 2007 Aug;15(8):1933-43. 
• “Lack of association between the tetranucleotide repeat polymorphism in the 3’-flanking region of the leptin gene and hypertension in severly obese patients” Maestrini S, Mencarelli M, Verti B, Walker GE, Savia G, Marzullo P, Tagliaferri M, Liuzzi A and Di Blasio AM J Endocrinol Invest 29: 776-80, 2006.
• “Lack of association between UCP2 gene polymorphisms and obesity phenotype in Italian Caucasians”. Maestrini S, Podesta F, Di Blasio AM, Savia G, Brunani A, Tagliaferri A, Mencarelli M, Chiodini I, Liuzzi A.  J Endocrinol Invest. 2003 Oct;26(10):985-90.
• “A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith-Wiedemann syndrome”. Russo S, Mencarelli M, Cavalleri F, Selicorni A, Cogliati F, Larizza L. Mol Cell Probes. 2003 Dec;17(6):295-9.

Partecipazioni a Congressi

Ha partecipato a 29 covengni.