A5060986658- Retinal Development and Disorders
- Lymphatic System and Diseases
- Retinal Diseases and Treatments
- Congenital Heart Disease Studies
- Congenital heart defects research
- Connective tissue disorders research
- Colorectal Cancer Treatments and Studies
- Vascular Malformations and Hemangiomas
- Cardiac Valve Diseases and Treatments
- Genetic and Kidney Cyst Diseases
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Genetic factors in colorectal cancer
- melanin and skin pigmentation
- Retinal and Optic Conditions
- Hereditary Neurological Disorders
- Aortic Disease and Treatment Approaches
- Aortic aneurysm repair treatments
- Skin and Cellular Biology Research
- Cardiac electrophysiology and arrhythmias
- Renal and related cancers
- Protein Tyrosine Phosphatases
- Cellular transport and secretion
- Vascular Tumors and Angiosarcomas
- Connexins and lens biology
Center for Neuroscience and Cognitive Systems
2017-2024
Shanghai Jiao Tong University
2024
Shanghai Ninth People's Hospital
2024
Weatherford College
2020
National Center on Birth Defects and Developmental Disabilities
2019
University of Tirana
2015
Medical Genetics Center
2013
University of Urbino
2007-2011
University of Pisa
2008
Ospedale di Livorno
2008
Obesity is a major public health concern; despite evidence of high heritability, the genetic causes obesity remain unclear.In this study, we assessed presence mutations in three genes involved hypothalamic leptin-melanocortin regulation pathway (leptin, LEP; leptin receptor, LEPR; and melanocortin-4 MC4R), which important for energy homeostasis body, group patients with severe obesity.For selected 77 who had undergone bariatric surgery pre-operative body mass index (BMI) >35 kg/m 2 , early...
The objective is to investigate whether polymorphisms with putative influence on fluorouracil/oxaliplatin activity are associated clinical outcomes of patients advanced colorectal cancer treated first-line oxaliplatin, folinic acid, and fluorouracil palliative chemotherapy.Consecutive were prospectively enrolled onto medical oncology units in Central Italy. Patients required have cytologically/histologically confirmed metastatic disease at least one measurable lesion. Peripheral blood...
Several studies have suggested that KRAS somatic mutations may predict resistance to cetuximab- and panitumumab-based treatments in metastatic colorectal cancer (CRC) patients. Nevertheless, most experiences were conducted on samples from primaries. The aim of this study was evaluate the grade concordance terms status between primaries related metastases.We analyzed codon 12 13 formalin-fixed sections 107 CRC metastases. Eight pairs excluded analysis because low amount tumor tissue available...
Purpose Regulation of epidermal growth factor receptor (EGFR) signaling pathways may play a relevant role in determining the activity cetuximab therapy patients with metastatic colorectal cancer (MCRC). We investigated possible associations between genetic variants and clinical outcomes MCRC treated cetuximab-irinotecan salvage therapy. Patients Methods who underwent after disease progression during or first-line bolus/infusional fluorouracil, leucovorin, oxaliplatin chemotherapy second-line...
To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP) and Usher syndrome (US) in Italian patients.A total 591 probands (315 with family history 276 sporadics) were analyzed. For 155 them, we performed a segregation study, considering 382 relatives. Probands analyzed by customized multigene panel approach. Sanger sequencing was used to validate all genetic variants perform studies. Copy number selected genes multiplex ligation-dependent probe amplification. Four...
Lipedema is an often underdiagnosed chronic disorder that affects subcutaneous adipose tissue almost exclusively in women, which leads to disproportionate fat accumulation the lower and upper body extremities. Common comorbidities include anxiety, depression, pain. The correlation between mood deposition suggests involvement of steroids metabolism neurohormones signaling, however no clear association has been established so far. In this study, we report on a family with three patients...
Bardet-Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There currently no treatment for BBS, but some morbidities can be managed. Accurate molecular diagnosis often crucial the definition of appropriate patient management and development potential personalized therapy.We developed next-generation-sequencing (NGS) protocol screening 18 most frequently mutated genes to define genotype clarify mutation spectrum...
Abstract Clin Chem Lab Med 2007;45:822–8.
// Daniela Tavian 1 , Sara Missaglia Paolo E. Maltese 2 Sandro Michelini 3 Alessandro Fiorentino Maurizio Ricci 4 Roberta Serrani Michael A. Walter 5,6 and Matteo Bertelli Laboratory of Cellular Biochemistry Molecular Biology, CRIBENS, Catholic University the Sacred Heart, Milan, Italy MAGI Non-Profit Human Medical Genetics Institute, Rovereto (TN), Department Vascular Rehabilitation, San Giovanni Battista Hospital, Rome, Medicina Riabilitativa, Azienda Ospedaliero-Universitaria Ospedali...
Abstract A whole exome sequencing approach was recently used to detect a CELSR1 truncating variant associated with lymphedema in large pedigree. Since this first report, no other similar associations have been reported the literature. Here, we present genetic results of 95 probands tested using next generation panel that covered all known lymphedema‐associated genes, including . Five out (5.3%) were found carry novel loss‐of‐function variants Family segregation studies possible four five and...
Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits subcutaneous fat, that easily misdiagnosed. can be primary or syndromic, and main feature phenotypically overlapping disorders. The aim this study was design next-generation sequencing (NGS) panel help in diagnosis lipedema identifying genes specific for but also diseases, targets tailored treatments. We developed an NGS gene consisting 305 potentially associated with...
Guanylate Cyclase-Activating Protein 1 (GCAP1) regulates the enzymatic activity of photoreceptor guanylate cyclases (GC), leading to inhibition or activation cyclic guanosine monophosphate (cGMP) synthesis depending on its Ca2+- Mg2+-loaded state. By genetically screening a family patients diagnosed with cone-rod dystrophy, we identified novel missense mutation autosomal dominant inheritance pattern (c.332A>T; p.(Glu111Val); E111V from now on) in GUCA1A gene coding for GCAP1. We performed...
Abstract Two-hundred and thirty-four Italian patients with a clinical diagnosis of macular, cone cone-rod dystrophies (MD, CD, CRD) were examined using next-generation sequencing (NGS) gene panels targeting specific set genes, Sanger and—when necessary—multiplex ligation-dependent probe amplification (MLPA) to diagnose the molecular cause aforementioned diseases. When possible, segregation analysis was performed in order confirm unsolved cases. Each patient’s retinal phenotypic...
Coronavirus disease 2019 is an infectious associated with the respiratory system caused by SARS-CoV-2 virus. Right now, increasing number of patients Post-COVID Syndrome show, without clear evidence organ dysfunction, a plethora severe symptoms, such as fatigue, pain, shortness breath, cognitive impairment, and sleep disturbance. It has already been demonstrated that virus can disrupt self-tolerance mechanism immune system, thus triggering autoimmune conditions. Several studies have recently...
Background and Objectives. Retinitis pigmentosa (RP) is the most common inherited rod–cone dystrophy (RCD), resulting in nyctalopia, progressive visual field, acuity decay late stages. The autosomal dominant form (ADRP) accounts for about 20% of RPs. Among over 30 genes found to date related ADRP, RP1 pathogenic variants have been identified 5–10% cases. In a cohort RCD patients from Palermo province on island Sicily, we prevalent nonsense variant RP1, which was associated with ADRP....
We investigated the association between thymidylate synthase (TS) germline polymorphisms and response to 5-fluorouracil-based chemotherapy in 80 patients with liver-only metastatic colorectal cancer (MCRC). The tandem repeat polymorphism (VNTR) TS 5′-untranslated region (5′-UTR), which consists of two (2R) or three (3R) 28-bp repeated sequences, without a G/C nucleotide change 3R carriers (3G 3C) 6-bp insertion/deletion (6+/6−) 3′-UTR, was studied. distinction high (2R/3G, 3C/3G 3G/3G) low...
Long QT syndrome (LQTS) has great genetic heterogeneity: more than 500 mutations have been described in several genes. Despite many advances, a diagnosis still cannot be established 25-30% of patients. The aim the present study was to perform evaluation 9 Russian families with LQTS; here we report results 4 positive probands and their relatives (a total 16 individuals). All subjects underwent clinical examination, 12-lead ECG, Holter monitoring. Genetic analysis 14 genes mainly involved LQTS...
Purpose: Describing the clinical and genetic features of an ethnically heterogeneous group (inherited retinal diseases) IRD patients from different underrepresented countries, referring to specialized Italian Hospitals, expanding epidemiological spectrum in understudied populations. Methods: The patients' phenotypes underwent were characterized by exhaustive ophthalmological examinations, including morpho-functional testing. Genetic testing was performed using next-generation sequencing...