42 research outputs found
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily
- Author
- Publication venue
- Publication date
- 01/02/2024
- Field of study
Get PDF: Background and Objectives. Retinitis pigmentosa (RP) is the most common inherited rod-cone dystrophy (RCD), resulting in nyctalopia, progressive visual field, and visual acuity decay in the late stages. The autosomal dominant form (ADRP) accounts for about 20% of RPs. Among the over 30 genes found to date related to ADRP, RP1 pathogenic variants have been identified in 5-10% of cases. In a cohort of RCD patients from the Palermo province on the island of Sicily, we identified a prevalent nonsense variant in RP1, which was associated with ADRP. The objective of our study was to analyse the clinical and molecular data of this patient cohort and to evaluate the potential presence of a founder effect. Materials and Methods. From 2005 to January 2023, 84 probands originating from Western Sicily (Italy) with a diagnosis of RCD or RP and their relatives underwent deep phenotyping, which was performed in various Italian clinical institutions. Molecular characterisation of patients and familial segregation of pathogenic variants were carried out in different laboratories using Sanger and/or next-generation sequencing (NGS). Results. Among 84 probands with RCD/RP, we found 28 heterozygotes for the RP1 variant c.2219C>G, p.Ser740* ((NM_006269.2)*, which was therefore significantly prevalent in this patient cohort. After a careful interview process, we ascertained that some of these patients shared the same pedigree. Therefore, we were ultimately able to define 20 independent family groups with no traceable consanguinity. Lastly, analysis of clinical data showed, in our patients, that the p.Ser740* nonsense variant was often associated with a late-onset and relatively mild phenotype. Conclusions. The high prevalence of the p.Ser740* variant in ADRP patients from Western Sicily suggests the presence of a founder effect, which has useful implications for the molecular diagnosis of RCD in patients coming from this Italian region. This variant can be primarily searched for in RP-affected subjects displaying compatible modes of transmission and phenotypes, with an advantage in terms of the required costs and time for analysis. Moreover, given its high prevalence, the RP1 p.Ser740* variant could represent a potential candidate for the development of therapeutic strategies based on gene editing or translational read-through therapy for suppression of nonsense variants
Survival and causes of death in 2,033 patients with non-transfusion-dependent β-thalassemia
- Author
- Adriana Ceci
- Aldo Filosa
- Alessia Pepe
- Ali T. Taher
- Amal El-Beshlawy
- Angela Vitrano
- Antonella Meloni
- Aurelio Maggio
- Efthymia Vlachaki
- Elliott Vichinsky
- Fedele Bonifazi
- Gabriella Dardanoni
- Khaled M. Musallam
- Mahmoud Hajipour
- Mehran Karimi
- Paolo Ricchi
- Salvatore Scondotto
- Saqib Hussain Ansari
- Sebastiano Addario Pollina
- Shahina Daar
- Sylvia Titi Singer
- Vijay G. Sankaran
- Vito Di Marco
- Zaki A. Naserullah
- Publication venue
- Ferrata Storti Foundation
- Publication date
- 01/04/2021
- Field of study
Get PDFHE-LHC: The High-Energy Large Hadron Collider – Future Circular Collider Conceptual Design Report Volume 4
- Author
- Abada A.
- Abbrescia M.
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- Publication venue
- Springer Verlag
- Publication date
- 09/02/2021
- Field of study
Get PDFIn response to the 2013 Update of the European Strategy for Particle Physics (EPPSU), the Future Circular Collider (FCC) study was launched as a world-wide international collaboration hosted by CERN. The FCC study covered an energy-frontier hadron collider (FCC-hh), a highest-luminosity high-energy lepton collider (FCC-ee), the corresponding 100 km tunnel infrastructure, as well as the physics opportunities of these two colliders, and a high-energy LHC, based on FCC-hh technology. This document constitutes the third volume of the FCC Conceptual Design Report, devoted to the hadron collider FCC-hh. It summarizes the FCC-hh physics discovery opportunities, presents the FCC-hh accelerator design, performance reach, and staged operation plan, discusses the underlying technologies, the civil engineering and technical infrastructure, and also sketches a possible implementation. Combining ingredients from the Large Hadron Collider (LHC), the high-luminosity LHC upgrade and adding novel technologies and approaches, the FCC-hh design aims at significantly extending the energy frontier to 100 TeV. Its unprecedented centre-of-mass collision energy will make the FCC-hh a unique instrument to explore physics beyond the Standard Model, offering great direct sensitivity to new physics and discoveries
FCC-ee: The Lepton Collider – Future Circular Collider Conceptual Design Report Volume 2
- Author
- Abada A.
- Abbrescia M.
- AbdusSalam S. S.
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- Wilkinson G.
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- Zupan J.
- Zurita J.
- Özcan V.
- Özdemir K.
- Publication venue
- Springer Verlag
- Publication date
- 14/11/2019
- Field of study
Get PDFFCC-ee: The Lepton Collider: Future Circular Collider Conceptual Design Report Volume 2
- Author
- Abada A
- Abbrescia M
- AbdusSalam SS
- Abdyukhanov I
- Abramov A
- Aburaia M
- Acar AO
- Adzic PR
- Agaliotis EL
- Agrawal P
- Aguilar-Saavedra JA
- Aguilera-Verdugo JJ
- Aiba M
- Aichinger I
- Aielli G
- Akay A
- Akhundov A
- Aksakal H
- Alaniz EC
- Albacete JL
- Albergo S
- Alekou A
- Aleksa M
- Aleksan R
- Alexahin Y
- Alia RG
- Alioli S
- Allanach BC
- Allport PP
- Altinli M
- Altmannshofer W
- Ambrosio G
- Amorim D
- Amstutz O
- Anderlini L
- Andreazza A
- Andreini M
- Andriatis A
- Andris C
- Andronic A
- Angelucci M
- Antinori F
- Antipov SA
- Antonelli M
- Antonello M
- Antonioli P
- Antusch S
- Anulli F
- Apolinario L
- Apollinari G
- Apollonio A
- Appelo D
- Appleby RB
- Apyan A
- Apyan A
- Arbey A
- Arbuzov A
- Arduini G
- Ari V
- Arias S
- Armesto N
- Arnaldi R
- Arsenyev SA
- Arzeo M
- Asai S
- Aslanides E
- Assmann RW
- Astapovych D
- Atanasov M
- Atieh S
- Attie D
- Auchmann B
- Audurier A
- Aull S
- Aumon S
- Aune S
- Avino F
- Avrillaud G
- Aydin G
- Azatov A
- Azuelos G
- Azzi P
- Azzolini O
- Azzurri P
- Bacchetta N
- Bacchiocchi E
- Bachacou H
- Baek YW
- Baglin V
- Bai Y
- Baird S
- Baker MJ
- Baldwin MJ
- Ball AH
- Ballarino A
- Banerjee S
- Barber DP
- Barducci D
- Barjhoux P
- Barna D
- Barnafoldi GG
- Barnes MJ
- Barr A
- Bartmann W
- Baryshevsky V
- Barzi E
- Bass SA
- Bastianin A
- Baudouy B
- Bauer F
- Bauer M
- Baumgartner T
- Bautista-Guzman I
- Bayindir C
- Beaudette F
- Bedeschi F
- Beguin M
- Behr JK
- Bellafont I
- Bellagamba L
- Bellegarde N
- Belli E
- Bellingeri E
- Bellini F
- Bellomo G
- Belomestnykh S
- Bencivenni G
- Benedikt M
- Bermudez SI
- Bernardi G
- Bernardi J
- Bernet C
- Bernhardt JM
- Bernini C
- Berriaud C
- Bertarelli A
- Bertolucci S
- Besana MI
- Besancon M
- Beznosov O
- Bhat C
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- Zerlauth M
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- Zhang C
- Zhang H
- Zhang Y
- Zhang Z
- Zhao Z
- Zhong Y-M
- Zhou D
- Zhou J
- Zhuang P
- Zick G
- Zimmermann F
- Zinn-Justin J
- Zivkovic L
- Zlobin AV
- Zobov M
- Zupan J
- Zurita J
- Publication venue
- SPRINGER HEIDELBERG
- Publication date
- 01/06/2019
- Field of study
Get PDFIn response to the 2013 Update of the European Strategy for Particle Physics, the Future Circular Collider (FCC) study was launched, as an international collaboration hosted by CERN. This study covers a highest-luminosity high-energy lepton collider (FCC-ee) and an energy-frontier hadron collider (FCC-hh), which could, successively, be installed in the same 100 km tunnel. The scientific capabilities of the integrated FCC programme would serve the worldwide community throughout the 21st century. The FCC study also investigates an LHC energy upgrade, using FCC-hh technology. This document constitutes the second volume of the FCC Conceptual Design Report, devoted to the electron-positron collider FCC-ee. After summarizing the physics discovery opportunities, it presents the accelerator design, performance reach, a staged operation scenario, the underlying technologies, civil engineering, technical infrastructure, and an implementation plan. FCC-ee can be built with today’s technology. Most of the FCC-ee infrastructure could be reused for FCC-hh. Combining concepts from past and present lepton colliders and adding a few novel elements, the FCC-ee design promises outstandingly high luminosity. This will make the FCC-ee a unique precision instrument to study the heaviest known particles (Z, W and H bosons and the top quark), offering great direct and indirect sensitivity to new physics
FCC Physics Opportunities: Future Circular Collider Conceptual Design Report Volume 1
- Author
- Abada A
- Abbrescia M
- AbdusSalam SS
- Abdyukhanov I
- Abramov A
- Aburaia M
- Acar AO
- Adzic PR
- Agrawal P
- Aguilar-Saavedra JA
- Aguilera-Verdugo JJ
- Ahnen JV
- Aiba M
- Aichinger I
- Aielli G
- Akay A
- Akhundov A
- Aksakal H
- Alaniz EC
- Albacete JL
- Albergo S
- Alekou A
- Aleksa M
- Aleksan R
- Alexahin Y
- Alia RG
- Alioli S
- Allanach BC
- Allport PP
- Altinli M
- Altmannshofer W
- Amann RW
- Ambrosio G
- Amorim D
- Amstutz O
- Anderlini L
- Andreazza A
- Andreini M
- Andriatis A
- Andris C
- Andronic A
- Angelucci M
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- Avino F
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- Azatov A
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- Yang G
- Yang HJ
- Yao W-M
- Yazgan E
- Yermolchik V
- Yildiz HD
- Yilmaz A
- Yilmaz A
- Yoo H-D
- Yost SA
- You T
- Young C
- Yu F
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- Zaborowska A
- Zadeh SG
- Zadeh SG
- Zahnd M
- Zanetti M
- Zanotto L
- Zawiejski L
- Zeiler P
- Zerlauth M
- Zernov SM
- Zevi Dell Porta G
- Zhang C
- Zhang H
- Zhang Y
- Zhang Z
- Zhao Z
- Zhong Y-M
- Zhou D
- Zhou J
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- Zick G
- Zimmermann F
- Zinn-Justin J
- Zivkovic L
- Zlobin AV
- Zobov M
- Zupan J
- Zurita J
- Publication venue
- 'Springer Fachmedien Wiesbaden GmbH'
- Publication date
- 01/06/2019
- Field of study
Get PDFWe review the physics opportunities of the Future Circular Collider, covering its e+e-, pp, ep and heavy ion programmes. We describe the measurement capabilities of each FCC component, addressing the study of electroweak, Higgs and strong interactions, the top quark and flavour, as well as phenomena beyond the Standard Model. We highlight the synergy and complementarity of the different colliders, which will contribute to a uniquely coherent and ambitious research programme, providing an unmatchable combination of precision and sensitivity to new physics
HE-LHC: The High-Energy Large Hadron Collider: Future Circular Collider Conceptual Design Report Volume 4
- Author
- Abada A
- Abbrescia M
- AbdusSalam SS
- Abdyukhanov I
- Abelleira Fernandez J
- Abramov A
- Aburaia M
- Acar AO
- Adzic PR
- Agrawal P
- Aguilar-Saavedra JA
- Aguilera-Verdugo JJ
- Aiba M
- Aichinger I
- Aielli G
- Akay A
- Akhundov A
- Aksakal H
- Albacete JL
- Albergo S
- Alekou A
- Aleksa M
- Aleksan R
- Alemany Fernandez RM
- Alexahin Y
- Alia RG
- Alioli S
- Alipour Tehrani N
- Allanach BC
- Allport PP
- Altinli M
- Altmannshofer W
- Ambrosio G
- Amorim D
- Amstutz O
- Anderlini L
- Andreazza A
- Andreini M
- Andriatis A
- Andris C
- Andronic A
- Angelucci M
- Antinori F
- Antipov SA
- Antonelli M
- Antonello M
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- Antusch S
- Anulli F
- Apolinario L
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- Apollonio A
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- Arbuzov A
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- Ari V
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- Armesto N
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- Arsenyev SA
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- Asai S
- Aslanides E
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- Auchmann B
- Audurier A
- Aull S
- Aumon S
- Aune S
- Avino F
- Avrillaud G
- Aydin G
- Azatov A
- Azuelos G
- Azzi P
- Azzolini O
- Azzurri P
- Bacchetta N
- Bacchiocchi E
- Bachacou H
- Baek YW
- Baglin V
- Bai Y
- Baird S
- Baker MJ
- Baldwin MJ
- Ball AH
- Ballarino A
- Banerjee S
- Barber DP
- Barducci D
- Barjhoux P
- Barna D
- Barnafoldi GG
- Barnes MJ
- Barr A
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- Barreiro Guimaraes da Costa J
- Bartmann W
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- Bauer F
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- Baumgartner T
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- de Vivie de Regie JB
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- Honorato CG
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- Jones MA
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- Jung S
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- Kartal S
- Karyukhin A
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- Katharina Behr J
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- Zeiler P
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- Zevi Dell Porta G
- Zhang C
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- Publication venue
- SPRINGER HEIDELBERG
- Publication date
- 01/07/2019
- Field of study
Get PDFIn response to the 2013 Update of the European Strategy for Particle Physics (EPPSU), the Future Circular Collider (FCC) study was launched as a world-wide international collaboration hosted by CERN. The FCC study covered an energy-frontier hadron collider (FCC-hh), a highest-luminosity high-energy lepton collider (FCC-ee), the corresponding 100 km tunnel infrastructure, as well as the physics opportunities of these two colliders, and a high-energy LHC, based on FCC-hh technology. This document constitutes the third volume of the FCC Conceptual Design Report, devoted to the hadron collider FCC-hh. It summarizes the FCC-hh physics discovery opportunities, presents the FCC-hh accelerator design, performance reach, and staged operation plan, discusses the underlying technologies, the civil engineering and technical infrastructure, and also sketches a possible implementation. Combining ingredients from the Large Hadron Collider (LHC), the high-luminosity LHC upgrade and adding novel technologies and approaches, the FCC-hh design aims at significantly extending the energy frontier to 100 TeV. Its unprecedented centre-of-mass collision energy will make the FCC-hh a unique instrument to explore physics beyond the Standard Model, offering great direct sensitivity to new physics and discoveries
FCC-hh: The Hadron Collider: Future Circular Collider Conceptual Design Report Volume 3
- Author
- Abada A
- Abbrescia M
- AbdusSalam SS
- Abdyukhanov I
- Abelleira Fernandez J
- Abramov A
- Aburaia M
- Acar AO
- Adzic PR
- Agrawal P
- Aguilar-Saavedra JA
- Aguilera-Verdugo JJ
- Aiba M
- Aichinger I
- Aielli G
- Akay A
- Akhundov A
- Aksakal H
- Albacete JL
- Albergo S
- Alekou A
- Aleksa M
- Aleksan R
- Alemany Fernandez RM
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 18/12/2018
- Field of study
Get PDFIn response to the 2013 Update of the European Strategy for Particle Physics (EPPSU), the Future Circular Collider (FCC) study was launched as a world-wide international collaboration hosted by CERN. The FCC study covered an energy-frontier hadron collider (FCC-hh), a highest-luminosity high-energy lepton collider (FCC-ee), the corresponding 100 km tunnel infrastructure, as well as the physics opportunities of these two colliders, and a high-energy LHC, based on FCC-hh technology. This document constitutes the third volume of the FCC Conceptual Design Report, devoted to the hadron collider FCC-hh. It summarizes the FCC-hh physics discovery opportunities, presents the FCC-hh accelerator design, performance reach, and staged operation plan, discusses the underlying technologies, the civil engineering and technical infrastructure, and also sketches a possible implementation. Combining ingredients from the Large Hadron Collider (LHC), the high-luminosity LHC upgrade and adding novel technologies and approaches, the FCC-hh design aims at significantly extending the energy frontier to 100 TeV. Its unprecedented centre of-mass collision energy will make the FCC-hh a unique instrument to explore physics beyond the Standard Model, offering great direct sensitivity to new physics and discoveries
HE-LHC: The High-Energy Large Hadron Collider
- Author
- Abada A
- Abbrescia M
- AbdusSalam SS
- Abdyukhanov I
- Abelleira Fernandez J
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 18/12/2018
- Field of study
Get PDFIn response to the 2013 Update of the European Strategy for Particle Physics (EPPSU), the Future Circular Collider (FCC) study was launched as a world-wide international collaboration hosted by CERN. The FCC study covered an energy-frontier hadron collider (FCC-hh), a highest-luminosity high-energy lepton collider (FCC-ee), the corresponding 100 km tunnel infrastructure, as well as the physics opportunities of these two colliders, and a high-energy LHC, based on FCC-hh technology. This document constitutes the third volume of the FCC Conceptual Design Report, devoted to the hadron collider FCC-hh. It summarizes the FCC-hh physics discovery opportunities, presents the FCC-hh accelerator design, performance reach, and staged operation plan, discusses the underlying technologies, the civil engineering and technical infrastructure, and also sketches a possible implementation. Combining ingredients from the Large Hadron Collider (LHC), the high-luminosity LHC upgrade and adding novel technologies and approaches, the FCC-hh design aims at significantly extending the energy frontier to 100 TeV. Its unprecedented centre-of-mass collision energy will make the FCC-hh a unique instrument to explore physics beyond the Standard Model, offering great direct sensitivity to new physics and discoveries
FCC-hh: The Hadron Collider: Future Circular Collider Conceptual Design Report Volume 3
- Author
- Abada A
- Abbrescia M
- AbdusSalam SS
- Abdyukhanov I
- Abelleira Fernandez J
- Abramov A
- Aburaia M
- Acar AO
- Adzic PR
- Agrawal P
- Aguilar-Saavedra JA
- Aguilera-Verdugo JJ
- Aiba M
- Aichinger I
- Aielli G
- Akay A
- Akhundov A
- Aksakal H
- Albacete JL
- Albergo S
- Alekou A
- Aleksa M
- Aleksan R
- Alemany Fernandez RM
- Alexahin Y
- Alia RG
- Alioli S
- Alipour Tehrani N
- Allanach BC
- Allport PP
- Altinli M
- Altmannshofer W
- Ambrosio G
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- Amstutz O
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- Andreini M
- Andriatis A
- Andris C
- Andronic A
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- Publication venue
- SPRINGER HEIDELBERG
- Publication date
- 01/07/2019
- Field of study
Get PDFIn response to the 2013 Update of the European Strategy for Particle Physics (EPPSU), the Future Circular Collider (FCC) study was launched as a world-wide international collaboration hosted by CERN. The FCC study covered an energy-frontier hadron collider (FCC-hh), a highest-luminosity high-energy lepton collider (FCC-ee), the corresponding 100 km tunnel infrastructure, as well as the physics opportunities of these two colliders, and a high-energy LHC, based on FCC-hh technology. This document constitutes the third volume of the FCC Conceptual Design Report, devoted to the hadron collider FCC-hh. It summarizes the FCC-hh physics discovery opportunities, presents the FCC-hh accelerator design, performance reach, and staged operation plan, discusses the underlying technologies, the civil engineering and technical infrastructure, and also sketches a possible implementation. Combining ingredients from the Large Hadron Collider (LHC), the high-luminosity LHC upgrade and adding novel technologies and approaches, the FCC-hh design aims at significantly extending the energy frontier to 100 TeV. Its unprecedented centre of-mass collision energy will make the FCC-hh a unique instrument to explore physics beyond the Standard Model, offering great direct sensitivity to new physics and discoveries
