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A Multiplex PCR-Based Next-Generation Sequencing Approach Has Detected a Common Large Deletion in STS Gene in a Patient with X-Linked Ichthyosis

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Journal of Biomedical Science and Engineering 2016年第7期9卷 337-341页

作者： Francesco Calì Giuseppa Maria Luana Mandarà Giuseppa Ruggeri Corrado Romano valeria chiavetta Alda Ragalmuto Roberto Salluzzo Valentino Romano Marilena Galati Tardanico Carmelo Schepis Laboratory of Molecular Genetics Unit of Medical Genetics IRCCS Associazione Oasi Maria SS. Troina (EN) Italy Unit of Medical Genetics Azienda Sanitaria Provinciale di Ragusa Ragusa Italy Unit of Paediatrics and Medical Genetics IRCCS Associazione Oasi Maria SS. Troina (EN) Italy Department of Physics and Chemistry University of Palermo Palermo Italy Unit of Dermatology IRCCS Associazione Oasi Maria SS. Troina (EN) Italy

Several nuclear genes have been found to be linked to ichthyosis, and Next Generation Sequencing approach on panels of targeted genes has turned out to be particularly useful in analyzing diseases characterized by significant genetic and phenotypic heterogeneity. We developed a panel of 26 genes to be screened with the Ion Personal Genome Machine (PGM) for causative mutations relating to ichthyosis. Sequencing runs were obtained from a patient with ichthyosis using the Ion Torrent PGM and then processed with Ion Torrent Suite, Variant Caller, Coverage Analysis and wANNOVER tools. No causative mutations were found using Variant Caller and wANNOVER softwares, whereas the “Coverage Analysis” tool revealed a common large deletion in STS gene in a patient with X-linked ichthyosis. Identification of indels in Next Generation Sequencing (NGS) data is a veritable challenge. This study demonstrates the efficacy and effectiveness of using NGS approach to detect large deletions without resorting to specific algorithms for “indel” detection. Our results indicate that the NGS panel is a useful, rapid and cost-effective screening test for patients whose features are suggestive of a genetic etiology involving one of the genes embedded in the panel. It is an excellent alternative to Sanger sequencing as for costs, ease of analysis, and turnaround time.

关键词： X-Linked Ichthyosis STS Gene Next Generation Sequencing Coverage Analysis

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Small heat shock protein B8:from cell functions to its involvement in diseases and potential therapeutic applications

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Neural Regeneration Research 2025年第10期20卷 2872-2886页

作者： Marta Chierichetti Riccardo Cristofani valeria Crippa Veronica Ferrari Marta Cozzi Elena Casarotto Paola Pramaggiore Laura Cornaggia Guglielmo Patelli Ali Mohamed Margherita Piccolella Mariarita Galbiati Paola Rusmini Barbara Tedesco Angelo Poletti Laboratory of Experimental Biology Dipartimento di Scienze Farmacologiche e Biomolecolari“Rodolfo Paoletti”(DiSFeB)Universitàdegli Studi di MilanoMilanItaly

Heat shock protein family B(small)member 8(HSPB8)is a 22 kDa ubiquitously expressed protein belonging to the family of small heat shock ***8 is involved in various cellular mechanisms mainly related to proteotoxic stress response and in other processes such as inflammation,cell division,and ***8 binds misfolded clients to prevent their aggregation by assisting protein refolding or degradation through chaperone-assisted selective *** line with this function,the pro-degradative activity of HSPB8 has been found protective in several neurodegenerative and neuromuscular diseases characterized by protein misfolding and *** cancer,HSPB8 has a dual role being capable of exerting either a pro-or an anti-tumoral activity depending on the pathways and factors expressed by the model of cancer under ***,HSPB8 exerts a protective function in different diseases by modulating the inflammatory response,which characterizes not only neurodegenerative diseases,but also other chronic or acute conditions affecting the nervous system,such as multiple sclerosis and intracerebellar *** note,HSPB8 modulation may represent a therapeutic approach in other neurological conditions that develop as a secondary consequence of other *** is the case of cognitive impairment related to diabetes mellitus,in which HSPB8 exerts a protective activity by assuring mitochondrial *** review aims to summarize the diverse and multiple functions of HSPB8 in different pathological conditions,focusing on the beneficial effects of its ***-based and alternative therapeutic approaches targeting HSPB8 and its regulated pathways will be discussed,emphasizing how new strategies for cell and tissue-specific delivery represent an avenue to advance in disease treatments.

关键词： aggregation autophagy cancer chaperone chaperone-assisted selective autophagy cognitive impairment HSPB8 neuroinflammation neuromuscular diseases therapy

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Genetic signatures of ERCC1 and ERCC2 expression, along with SNPs variants, unveil favorable prognosis in SCLC patients undergoing platinum-based chemotherapy

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Oncology research 2025年第1期33卷 45-55页

作者： Enrico Caliman Sara Fancelli Federico Scolari Adriano Pasqui Clara Manneschi Daniele Lavacchi Francesca Mazzoni Francesca Gensini valeria Pasini Camilla Eva Comin Luca Voltolini Serena Pillozzi Lorenzo Antonuzzo Clinical Oncology Unit Careggi University Hospital Florence 50134 Italy. Department of Experimental and Clinical Medicine University of Florence Florence 50134 Italy. Department of Health Sciences University of Florence Florence 50134 Italy. Medical Oncology Unit Careggi University Hospital Florence 50134 Italy. Department of Experimental and Clinical Biomedical Sciences "Mario Serio" University of Florence Florence 50134 Italy. Section of Anatomic Pathology Department of Health Sciences University of Florence Florence 50139 Italy. Section of Surgery Histopathology and Molecular Pathology University of Florence Florence 50139 Italy. Thoracic Surgery Unit Careggi University Hospital Florence 50134 Italy.

Background:Platinum chemotherapy (CT) remains the backbone of systemic therapy for patients with small-cell lung cancer (SCLC). The nucleotide excision repair (NER) pathway plays a central role in the repair of the DNA damage exerted by platinum agents. Alteration in this repair mechanism may affect patients' survival.Materials and Methods:We conducted a retrospective analysis of data from 38 patients with extensive disease (ED)-SCLC who underwent platinum-CT at the Clinical Oncology Unit, Careggi University Hospital, Florence (Italy), from 2015 to 2020. mRNA expression analysis and single nucleotide polymorphism (SNP) characterization of three NER pathway genes-namely , , and -were performed on patient tumor samples.Results:Overall, elevated expression of genes was observed in SCLC patients compared to healthy controls. Patients with low and expression levels exhibited a better median progression-free survival (mPFS = 7.1 . 4.9 months, = 0.39 for and mPFS = 6.9 . 4.8 months, = 0.093 for ) and overall survival (mOS = 8.7 . 6.0 months, = 0.4 for and mOS = 7.2 . 6.2 months, = 0.13 for ). Genotyping analysis of five SNPs of genes showed a longer survival in patients harboring the wild-type genotype or the heterozygous variant of the rs11615 SNP ( = 0.24 for PFS and = 0.14 for OS) and of the rs13181 and rs1799793 SNPs ( = 0.43 and = 0.26 for PFS and = 0.21 and = 0.16 for OS, respectively) compared to patients with homozygous mutant genotypes.Conclusions:The comprehensive analysis of gene expression and SNP variants appears to identify patients who derive greater survival benefits from platinum-CT.

关键词： ERCC genes Nucleotide excision repair (NER) pathway Platinum-chemotherapy (CT) Single nucleotide polymorphisms (SNPs) Small cell lung cancer (SCLC)

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Thermal survival limits of young and mature larvae of a cold stenothermal chironomid from the Alps （Diamesinae： Pseudodiamesa branickii [Nowicki, 1873]）

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Insect Science 2017年第2期24卷 314-324页

作者： valeria Lencioni Paola Bernabo Section of Invertebrate Zoology and Hydrobiology MUSE-Museo delle Scienze Corso del Lavoro e della Scienza 3 38123 Trento Italy

The threats posed by climate change make it important to expand knowl- edge concerning cold and heat tolerance in stenothermal species from habitats potentially threatened by temperature changes. Thermal limits and basal metabolism variations were investigated in Pseudodiamesa branickii （Diptera： Chironomidae） under thermal stress between -20 and 37 ℃. Supercooling point （SCP）, lower （LLTs） and upper lethal temper- atures （ULTs）, and oxygen consumption rate were measured in overwintering young （lst and 2nd instar） and mature （3rd and 4th instar） larvae from an Alpine glacier-fed stream. Both young and mature larvae were freezing tolerant （SCPs = -7.1 ℃ and -6.4 ℃, re- spectively; LLT100 〈SCP and 〉 -20 ℃） and thermotolerant （ULTso = 31.7 ± 0.4, 32.5± 0.3, respectively）. However, ontogenetic differences in acute tolerance were observed. The LLT50 calculated for the young larvae （=-7.4 ℃） was almost equal to their SCP （= -7.1 ℃） and the overlapping of the proportion of mortality curve with the CPIF curve highlighted that the young larvae are borderline between freezing tolerance and freezing avoidance. Furthermore, a lower ULT100 in the young larvae （of ca. 1 ℃）, suggests that they are less thermotolerant than mature larvae. Finally, young larvae exhibit a higher oxygen consumption rate （mgO2/gAFDM/h） at any temperature tested and are overall less resistant to oxygen depletion compared to mature larvae at ≥ 10 ℃. These findings sug- gest that mature larvae enter into a dormant state by lowering their basal metabolism until environmental conditions improve in order to save energy for life cycle completion during stressful conditions.

关键词： basal metabolism glacier-fed streams larval development supercooling point thermotolerance

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The intricate debate on neurodegeneration and neuroinflammation in Parkinson’s disease:which came first?

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Neural Regeneration Research 2023年第1期18卷 125-126页

作者： Antonella Cardinale valeria Calabrese Experimental Neurophysiology Laboratory IRCCS San Raffaele RomaRomeItaly Department of Medicine Universitàdegli Studi di PerugiaPerugiaItaly

Parkinson’s disease(PD)is a heterogeneous multifactorial disorder and,during the last years,new scientific evidence has supported this *** principal hallmarks of PD are the loss of dopaminergic neurons in the substan... 详细信息

关键词： inflammation aggregation debate

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Expanding through the Emerald Isle:exploration and spatial orientation of non-native bank voles in Ireland

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Current Zoology 2024年第3期70卷 320-331页

作者： valeria Mazza Jana A.Eccard Animal Ecology Institute for Biochemistry and BiologyUniversity of PotsdamMaulbeerallee 114469PotsdamGermany and Department of Ecological and Biological Sciences University of TusciaLargo dell'Università10100 ViterboItaly

Whether introduced into a completely novel habitat or slowly expanding their current range,the degree to which animals can effciently explore and navigate new environments can be key to survival,ultimately determining population establishment and colonization *** tested whether spatial orientation and exploratory behavior are associated with non-native spread in free-living bank voles(Myodes glareolus,N=43)from a population accidentally introduced to Ireland a century *** measured spatial orientation and navigation in a radial arm maze,and behaviors associated to exploratory tendencies and risk-taking in repeated open-feld tests,at the expansion edge and in the source *** voles at the expansion edge re-visited unrewarded arms of the maze more,waited longer before leaving it,took longer to start exploring both the radial arm maze and the open feld,and were more risk-averse compared to conspecifcs in the source *** together,results suggest that for this small mammal under heavy predation pressure,a careful and thorough exploration strategy might be favored when expanding into novel environments.

关键词： animal personality biological invasions exploration behavior Myodes glareolus range expansion spatial orientation.

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The interplay of drug therapeutics and immune responses to SARS-CoV-2

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Cellular & Molecular Immunology 2024年第2期21卷 197-200页

作者： valeria Fumagalli Matteo Iannacone Division of Immunology Transplantationand Infectious DiseasesIRCCS San Raffaele Scientific InstituteMilanItaly Vita-Salute San Raffaele University MilanItaly Experimental Imaging Centre IRCCS San Raffaele Scientific InstituteMilanItaly

The SARS-CoV-2 pandemic has necessitated rapid therapeutic and preventative *** vaccines form the frontline of defense,antiviral treatments such as nirmatrelvir have emerged as vital adjunctive measures,particularly for those unable or unwilling to be *** review delves into the potential influence of nirmatrelvir on enduring *** parallel,the potential of drug repurposing is explored,with bisphosphonates being examined for their possible effects against COVID-19 due to their immunomodulatory *** importance of rigorous clinical trials and careful interpretation of preliminary data is emphasized.

关键词： SARS-CoV-2 Nirmatrelvir Bisphosphonates Adaptive immunity Drug repurposing

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Activation of β2 adrenergic receptors promotes adult hippocampal neurogenesis

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Neural Regeneration Research 2020年第12期15卷 2258-2259页

作者： valeria Bortolotto Mariagrazia Grilli Laboratory of Neuroplasticity Department of Pharmaceutical SciencesUniversity of Piemonte OrientaleNovaraItaly

The subgranular zone (SGZ) of the hippocampal dentate gyrus is one of the few central nervous system regions where generation of adult born neurons occurs *** process,referred to as adult hippocampal neurogenesis (ahN... 详细信息

关键词： progenitor adult adrenergic

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Probiotics, prebiotics and their role in Alzheimer's disease

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Neural Regeneration Research 2021年第9期16卷 1768-1769页

作者： valeria D’Argenio Daniela Sarnataro Department of Human Sciences and Quality of Life Promotion San Raffaele Open UniversityRomaItaly CEINGE-Biotecnologie Avanzate NaplesItaly Department of Molecular Medicine and Medical Biotechnologies University of Naples Federico IINaplesItaly

Accumulation of amyloid and dysfunctional tau proteins in the brain, along with the development of dementia, characterizes Alzheimer 's disease(AD). Although the cause of AD is currently unknown, it has been shown that the onset of the disease, with amyloid-beta peptide(Aβ) accumulation, occurs 10–20 years before the development of the clinical signs.

关键词： Alzheimer tau Aβ

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Pancreatic cancer in 2021:What you need to know to win

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World Journal of Gastroenterology 2021年第35期27卷 5851-5889页

作者： valeria Tonini Manuel Zanni Department of Medical Sciences and Surgery University of Bologna-Emergency Surgery UnitIRCCS Sant’Orsola HospitalBologna 40121Italy University of Bologna Emergency Surgery UnitIRCCS Sant'Orsola HospitalBologna 40121Italy

Pancreatic cancer is one of the solid tumors with the worst ***-year survival rate is less than 10%.Surgical resection is the only potentially curative treatment,but the tumor is often diagnosed at an advanced stage of the disease and surgery could be performed in a very limited number of ***,surgery is still associated with high post-operative morbidity,while other therapies still offer very disappointing *** article reviews every aspect of pancreatic cancer,focusing on the elements that can improve *** was written with the aim of describing everything you need to know in 2021 in order to face this difficult challenge.

关键词： Pancreatic cancer treatment Advanced pancreatic cancer Metastatic pancreatic cancer Pancreatic cancer surgery Pancreatic cancer chemotherapy Pancreatic cancer screening

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