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| 1 | Comprehensive review of autoantibodies in patients with hyper-IgM syndrome显示文摘Hyper-immunoglobulin M syndrome is an X-linked primary immunodeficiency disease caused by mutations in the CD40 ligand gene.The CD40 ligand has been recently highlighted as playing a key role in the pathogenesis of primary biliary cholangitis.In the present study,we assessed an extensive set of serum autoantibodies in a series of well-defined patients with hyper-immunoglobulin M syndrome.Serum,liver-related and liver-not-related autoantibodies IgG,IgM and IgA were tested by ELISA and standard indirect immunofluorescence in HEp-2 cells in 13 Tunisian patients(8 males and 5 females,aged 1–12 years)with hyper-immunoglobulin M syndrome during 1995–2012 and,as controls,21 age-and gender-matched blood donors.The level of IgM antibody against MIT3 was significantly higher in patients than in controls(35.8 vs 10.7,P=0.002).Half of the hyperimmunoglobulin M syndrome patients were found to be anti-MIT3 IgM positive vs none of the controls(Po0.0001).Twenty-three percent of patients were found to be anti-sp100 antibody positive vs only 0.05%of controls.By immunofluorescence,92.3%of patients were MIT3 IgM positive vs none of the controls.In conclusion,the IgM class of anti-MIT3 antibodies was shown to be present by both ELISA and immunofluorescence in most of the patients with hyper-immunoglobulin M syndrome.The presence of the hallmark of primary biliary cholangitis,a disease where the CD40 ligand is a key player,in an immunodeficiency disease caused by mutations in the CD40 ligand gene is very intriguing and opens new scenarios in understanding the immune pathogenesis of primary biliary cholangitis. | Mohamed-Ridha Barbouche Qubo Chen Marco Carbone Imen Ben-Mustapha Zakera Shums Mehdi Trifa Federica Malinverno Francesca Bernuzzi Haiyan Zhang Nourhen Agrebi Gary L Norman Christopher Chang M Eric Gershwin Pietro Invernizzi | 2018 | Cellular & Molecular Immunology2018，15，6： | 2 |
| 2 | The multifaceted PDCD10/CCM3 gene显示文摘The programmed cell death 10(PDCD10)gene was originally identified as an apoptosis-related gene,although it is now usually known as CCM3,as the third causative gene of cerebral cavernous malformation(CCM).CCM is a neurovascular disease that is characterized by vascular malformations and is associated with headaches,seizures,focal neurological deficits,and cerebral hemorrhage.The PDCD10/CCM3 protein has multiple subcellular localizations and interacts with several multi-protein complexes and signaling pathways.Thus PDCD10/CCM3 governs many cellular functions,which include cell-to-cell junctions and cytoskeleton organization,cell proliferation and apoptosis,and exocytosis and angiogenesis.Given its central role in the maintenance of homeostasis of the cell,dysregulation of PDCD10/CCM3 can result in a wide range of altered cell functions.This can lead to severe diseases,including CCM,cognitive disability,and several types of cancers.Here,we review the multifaceted roles of PDCD10/CCM3 in physiology and pathology,with a focus on its functions beyond CCM. | Mariaelena Valentino Elisabetta Dejana Matteo Malinverno | 2021 | Genes & Diseases2021，8，6： | 2 |
| 3 | Alkenone abundance and its relationship to the eoceolithophore assemblage in Gulf of California surface waters显示文摘 | Malinverno E Prahl F G Popp B N | 2008 | Deep-Sea Research Part 12008，55，9： | 1 |
| 4 | Membrane and actin dy- namics interplay at lamellipodia leading edge显示文摘 | Bisi S Disanza A Malinverno C | 2013 | Cur Opin Biol2013，25，5： | 1 |
| 5 | Synaptic localization and activity of ADAM10 regulate excitatory synapses through N-cadherin cleavage显示文摘 | Malinverno Mat Carta Mar Epis Rob | | 0，，： | 1 |
| 6 | Electrical an- isotropy due to gas hydrate filled fractures 显示文摘 | Cook A E Anderson B I Malinverno A | 2010 | Geophysics2010，75，6： | 1 |
| 7 | Parsimonious Bayesian Markov chain Monte Carlo inversion in a nonlinear geophysical problem 显示文摘 | Alberto Malinverno | 2002 | Geophysical Journal International2002，151，3： | 1 |
| 8 | Processing of SeaMARC Swath Sonar Data显示文摘 | Malinverno A Edwards M H Ryan W B F | 1990 | IEEE Journal of Oceanic Engineering1990，15，1： | 1 |
| 9 | Decreased NR2B subunit synaptic levels cause impaired long-term potentiation but not long-term depression显示文摘 | Gardoni F Mauceri D Malinverno M | 2009 | J Neurosci2009，29，3： | 1 |
| 10 | Expanded uncertainty quantification in inverse problems:Hierarchical Bayes and empirical Bayes显示文摘 | Alberto Malinverno Victoria A Briggs | 2004 | Geophysics2004，69，4： | 1 |
| 11 | Expanded uncer- tainty quantification in inverse problems: hierarchical Bayes and empirical Bayes 显示文摘 | MALINVERNO A BRIGGS V A | 2004 | Geophysics2004，69，4： | 1 |
| 12 | Gas hydrate occur- rence from pore water chlorinity and downhole logs in a transect across the northern Cascadia margin (IODP Exp 311)显示文摘 | Malinverno A Kastner M Torres M E | 2008 | Jour- nal of Geophysical Research2008，113，： | 1 |
| 13 | Synaptic localization and activity of ADAM10 regulate excitatory synapses through N- cadherin cleavage显示文摘 | Malinverno M Carta M Epis R | 2010 | J Neurosci2010，30，16： | 1 |
| 14 | The neuropeptide PACAP38 induces dendritic spine remodeling through ADAMI0- N-cadherin signaling pathway显示文摘 | Gardoni F Saraceno C Malinverno M | 2012 | J Cell Sci2012，125，6： | 1 |
| 15 | Hydrogen sulfide impairs keratinocyte cell growth and adhesion inhibiting mitogen-activated protein kinase signaling显示文摘 | Gobbi G Ricci F Malinverno C | 2009 | Lab Invest2009，89，9： | 1 |
| 16 | A simple method to estimate the fractal dimensionof a self-affine series显示文摘 | Malinverno A | 1990 | Geophys Res Lett1990，17，11： | 1 |
| 17 | Gas hydrate occurrence from pore water chlorinity and downhole logs in a transect across the northern Cascadia margin (Integrated Ocean Drilling Program Expedition 311)显示文摘 | Malinverno A Kastner M Torres M E | 2008 | Journal of Geophysical Research2008，113，08： | 1 |
| 18 | Synaptic localization and activity of ADAM10 regulate excitatory synapses through N-cadherin cleavage显示文摘 | Matteo Malinverno Mario Carta Roberta Epis | | 0，，48： | 1 |
| 19 | Bridging all oral DAA therapy from wait time to post‐liver transplant to improve HCV eradication?显示文摘 | Maria Francesca Donato Sara Monico Federica Malinverno Alessio Aghemo Marco Maggioni Paolo Reggiani Massimo Colombo | 2015 | Liver Int2015，，1： | 1 |
| 20 | The neuropeptide PACAP38 induces dendritic spine remodeling through ADAM10-N- cadherin signaling pathway 显示文摘 | Gardoni F Saraceno C Malinverno M | 2012 | J Cell Sci2012，125，6： | 1 |
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