52 research outputs found
Next-generation HLA typing of 382 International Histocompatibility Working Group reference B-lymphoblastoid cell lines: Report from the 17th International HLA and Immunogenetics Workshop
- Author
- Al Shemmari S
- Ameen R
- Askar M
- Brown CJ
- Bultitude WP
- Chang C-J
- Chong W
- Creary LE
- Dinou A
- Duke JL
- Fernandez-Vina MA
- Ferriola D
- Fischer G
- Gangavarapu S
- Gendzekhadze K
- Guerra SG
- Hansen JA
- Hsu S
- Juan M
- Kashi Z
- Lam K
- Mallempati KC
- Marsh SGE
- Mayor NP
- Monos D
- Morris GP
- Mosbruger TL
- Osoegawa K
- Petrek M
- Ragoussis J
- Robinson J
- Saito K
- Saw CL
- Serra-Pages C
- Spierings E
- Stavropoulos-Giokas C
- Turner TR
- Vayntrub T
- Willis A
- Yamamoto F
- Zhang Q
- Publication venue
- ELSEVIER SCIENCE INC
- Publication date
- 01/07/2019
- Field of study
Extended molecular characterization of HLA genes in the IHWG reference B-lymphoblastoid cell lines (B-LCLs) was one of the major goals for the 17th International HLA and Immunogenetics Workshop (IHIW). Although reference B-LCLs have been examined extensively in previous workshops complete high-resolution typing was not completed for all the classical class I and class II HLA genes. To address this, we conducted a single-blind study where select panels of B-LCL genomic DNA samples were distributed to multiple laboratories for HLA genotyping by next-generation sequencing methods. Identical cell panels comprised of 24 and 346 samples were distributed and typed by at least four laboratories in order to derive accurate consensus HLA genotypes. Overall concordance rates calculated at both 2- and 4-field allele-level resolutions ranged from 90.4% to 100%. Concordance for the class I genes ranged from 91.7 to 100%, whereas concordance for class II genes was variable; the lowest observed at HLA-DRB3 (84.2%). At the maximum allele-resolution 78 B-LCLs were defined as homozygous for all 11 loci. We identified 11 novel exon polymorphisms in the entire cell panel. A comparison of the B-LCLs NGS HLA genotypes with the HLA genotypes catalogued in the IPD-IMGT/HLA Database Cell Repository, revealed an overall allele match at 68.4%. Typing discrepancies between the two datasets were mostly due to the lower-resolution historical typing methods resulting in incomplete HLA genotypes for some samples listed in the IPD-IMGT/HLA Database Cell Repository. Our approach of multiple-laboratory NGS HLA typing of the B-LCLs has provided accurate genotyping data. The data generated by the tremendous collaborative efforts of the 17th IHIW participants is useful for updating the current cell and sequence databases and will be a valuable resource for future studies
Analysis of the CCR5 gene coding region diversity in five South American populations reveals two new non-synonymous alleles in Amerindians and high CCR5*D32 frequency in Euro-Brazilians
- Author
- Accetturi CA
- Angelica B.W. Boldt
- Ansari-Lari MA
- Blanpain C
- Blanpain C
- Boldt AB
- Brajão de Oliveira K
- Braun-Prado K
- Brito AM
- Brumme ZL
- Calzada JE
- Carrington M
- Chies JA
- De Pinho Lott Carvalhaes FA
- de Souza PR
- Dean M
- Desgranges C
- Diaz FJ
- Excoffier L
- Fernandez-Vina MA
- Ferraro GA
- Gonzalez E
- Grimaldi R
- Guerin S
- Hisada M
- Howard OM
- Hunemeier T
- Ilíada R. Souza
- Jürgen F.J. Kun
- Kaimen-Maciel DR
- Leboute AP
- Lodércio Culpi
- Luiza T. Tsuneto
- Mangano A
- Maria Luiza Petzl-Erler
- Mummidi S
- Munerato P
- Navratilova Z
- Passos Jr GA
- Pauls Jr P
- Petzl-Erler ML
- Probst CM
- Shioda T
- Stephens JC
- Suslov KV
- Szwarcwald CL
- Tamasauskas D
- Tsuneto LT
- Vargas AE
- Yudin NS
- Zhao XY
- Zuniga JA
- Publication venue
- Sociedade Brasileira de Genética
- Publication date
- 01/01/2009
- Field of study
The CC chemokine receptor 5 (CCR5) molecule is an important co-receptor for HIV. The effect of the CCR5*D32 allele in susceptibility to HIV infection and AIDS disease is well known. Other alleles than CCR5*D32 have not been analysed before, neither in Amerindians nor in the majority of the populations all over the world. We investigated the distribution of the CCR5 coding region alleles in South Brazil and noticed a high CCR5*D32 frequency in the Euro-Brazilian population of the Paraná State (9.3%), which is the highest thus far reported for Latin America. The D32 frequency is even higher among the Euro-Brazilian Mennonites (14.2%). This allele is uncommon in Afro-Brazilians (2.0%), rare in the Guarani Amerindians (0.4%) and absent in the Kaingang Amerindians and the Oriental-Brazilians. R223Q is common in the Oriental-Brazilians (7.7%) and R60S in the Afro-Brazilians (5.0%). A29S and L55Q present an impaired response to β-chemokines and occurred in Afro- and Euro-Brazilians with cumulative frequencies of 4.4% and 2.7%, respectively. Two new non-synonymous alleles were found in Amerindians: C323F (g.3729G > T) in Guarani (1.4%) and Y68C (g.2964A > G) in Kaingang (10.3%). The functional characteristics of these alleles should be defined and considered in epidemiological investigations about HIV-1 infection and AIDS incidence in Amerindian populations
The singular epidemiology of HPV infection among French Guianese women with normal cytology
- Author
- A Hildesheim
- A Melle van
- AM Roda Husman de
- Antoine Adenis
- C Ferreccio
- Claire Grenier
- CM Wheeler
- Dominique Catherine
- DRL Brown
- E Lazcano-Ponce
- E Matos
- Fatiha Najioullah
- G Ayhan
- Gabriel Carles
- GM Clifford
- Hatem Ben Amor
- HKG Richardson
- Jean Luc Deshayes
- M Allen
- M Douine
- M Molano
- MA Fernandez-Vina
- Mathieu Nacher
- Maylis Douine
- Nadia Thomas
- Odile Kilié
- Paul Brousse
- PC Maciag
- PW Melkert
- R Sankaranarayanan
- Raymond Cesaire
- RC Herrero
- Remy Pignoux
- S Arrossi
- S Metcalfe
- S Sanjose de
- SK Kjaer
- SM Mahmud
- T Roue
- Valentin Dufit
- Vincent Lacoste
- Vincent Molinie
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Iron Behaving Badly: Inappropriate Iron Chelation as a Major Contributor to the Aetiology of Vascular and Other Progressive Inflammatory and Degenerative Diseases
- Author
- A Abbott
- A Abou-Raya
- A Aljandali
- A Ambesi-Impiombato
- A Aydin
- A Balcerczyk
- A Besarab
- A Brzezinski
- A Campbell
- A Carrillo-Vico
- A Cavalli
- A Chattopadhyay
- A Chattopadhyay
- A Cherubini
- A Dey
- A Doms
- A Donovan
- A Donovan
- A Dávalos
- A Gaeta
- A Garny
- A Gnjec
- A Gomes
- A Gopalakrishnan
- A Hald
- A Henney
- A Hirayama
- A Hoffmann
- A Huber
- A Hugman
- A Iannetti
- A Ide-Ektessabi
- A Jacobs
- A Jeyabalan
- A Kahvejian
- A Karrar
- A Kasztler
- A Kibel
- A Kocyigit
- A Kotha
- A Kumral
- A Lass
- A Lecube
- A Lewén
- A Lotery
- A Maggio
- A Malek
- A Malik
- A Mantovani
- A Matsuzawa
- A Mitra
- A Monge
- A Murakami
- A Murakami
- A Murakami
- A Murakami
- A Mutti
- A Nijnik
- A Nunomura
- A Nunomura
- A Patt
- A Persson
- A Pietrangelo
- A Piga
- A Pirat
- A Post
- A Pradhan
- A Protti
- A Rattner
- A Ravati
- A Rehman
- A Reynolds
- A Richmond
- A Roetto
- A Roetto
- A Rostom
- A Rumbold
- A Russo
- A Rötig
- A Saltelli
- A Saltelli
- A Sandek
- A Sassano
- A Scalbert
- A Scalbert
- A Scalbert
- A Sica
- A Smahi
- A Sola
- A Stintzi
- A Szewczyk
- A Taguchi
- A Tedgui
- A Terman
- A Terman
- A Terman
- A Undas
- A Virdis
- A Wagner
- A Wagner
- A Wagner
- A Wagner
- A Wojas-Pelc
- A Wong
- A Xu
- A Yoritaka
- A Yoshimura
- A-L Barabási
- AA Andreadis
- AA Borisy
- AA Farooqui
- AA Qutub
- AA Qutub
- AA Vlessis
- AB Nathens
- AB Parsons
- AB Parsons
- AB Thompson
- AB Thomson
- AC Bayne
- AC Bharti
- AC Cave
- AC Mello Filho
- AD d'Hardemare
- AD de Silva
- Ad hoc committee on systemic lupus erythematosus response criteria for fatigue
- ADL van der
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- SY Qian
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- T Amit
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- The Long-Term Intervention with Pravastatin in Ischaemic Disease (LIPID) Study Group
- TJ Gibson
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- TK Kvien
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- TO Scholl
- TO Scholl
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- Y Almog
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- YE Henrotin
- YF Chu
- YH Lee
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- YJ Surh
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- ZI Cabantchik
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- Publication venue
- Publication date
- 09/08/2008
- Field of study
The production of peroxide and superoxide is an inevitable consequence of
aerobic metabolism, and while these particular "reactive oxygen species" (ROSs)
can exhibit a number of biological effects, they are not of themselves
excessively reactive and thus they are not especially damaging at physiological
concentrations. However, their reactions with poorly liganded iron species can
lead to the catalytic production of the very reactive and dangerous hydroxyl
radical, which is exceptionally damaging, and a major cause of chronic
inflammation. We review the considerable and wide-ranging evidence for the
involvement of this combination of (su)peroxide and poorly liganded iron in a
large number of physiological and indeed pathological processes and
inflammatory disorders, especially those involving the progressive degradation
of cellular and organismal performance. These diseases share a great many
similarities and thus might be considered to have a common cause (i.e.
iron-catalysed free radical and especially hydroxyl radical generation). The
studies reviewed include those focused on a series of cardiovascular, metabolic
and neurological diseases, where iron can be found at the sites of plaques and
lesions, as well as studies showing the significance of iron to aging and
longevity. The effective chelation of iron by natural or synthetic ligands is
thus of major physiological (and potentially therapeutic) importance. As
systems properties, we need to recognise that physiological observables have
multiple molecular causes, and studying them in isolation leads to inconsistent
patterns of apparent causality when it is the simultaneous combination of
multiple factors that is responsible. This explains, for instance, the
decidedly mixed effects of antioxidants that have been observed, etc...Comment: 159 pages, including 9 Figs and 2184 reference
Open data from the third observing run of LIGO, Virgo, KAGRA and GEO
- Author
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- Publication venue
- Publication date
- 01/01/2023
- Field of study
The global network of gravitational-wave observatories now includes five
detectors, namely LIGO Hanford, LIGO Livingston, Virgo, KAGRA, and GEO 600.
These detectors collected data during their third observing run, O3, composed
of three phases: O3a starting in April of 2019 and lasting six months, O3b
starting in November of 2019 and lasting five months, and O3GK starting in
April of 2020 and lasting 2 weeks. In this paper we describe these data and
various other science products that can be freely accessed through the
Gravitational Wave Open Science Center at https://gwosc.org. The main dataset,
consisting of the gravitational-wave strain time series that contains the
astrophysical signals, is released together with supporting data useful for
their analysis and documentation, tutorials, as well as analysis software
packages.Comment: 27 pages, 3 figure
Haplotype analysis of the HFE gene among populations of Northern Eurasia, in patients with metabolic disorders or stomach cancer, and in long-lived people
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- A McCune
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- A Peasey
- A Sanchez-Mazas
- B Silva
- B Silva
- C Ellervik
- C Toomajian
- CS Cardoso
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- DE Ivanoshchuk
- E Beutler
- E Beutler
- EE Johnson
- ES Potekhina
- F Ali-Rahmani
- F Bonomini
- F Campos
- F Prugnolle
- F Thomas
- HB Fraser
- I. G. Solovjova
- JC Barton
- JL Grimsby
- K Ohnishi
- KJ Siddle
- KM Määttä
- KY Chen
- M Vujić
- M. A. Gubina
- M. I. Voevoda
- MA Fernandez Vina
- MH Ahmed
- N Mairuae
- N Martinelli
- N Qutob
- P Aguilar-Martinez
- PL Balaresque
- S Tangvarasittichai
- S. V. Mikhailova
- SH Lee
- SJ Mack
- SK Cattley
- SV Mikhailova
- T Meroño
- T Shiina
- TA Suslova
- TL Cover
- V. N. Babenko
- V. N. Maksimov
- W Nandar
- XG Wu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
History of narcolepsy at Stanford University
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- A Aran
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- A Heifetz
- A Katzav
- A Marcadet
- A Rechschaffen
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- A Yamanaka
- AC Haynes
- AG Karczmar
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- CD Knecht
- CH Schenck
- CI Barker
- CJ Moran
- CM Edwards
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Open data from the third observing run of LIGO, Virgo, KAGRA, and GEO
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- Publication venue
- American Astronomical Society
- Publication date
- 01/01/2023
- Field of study
The global network of gravitational-wave observatories now includes five detectors, namely LIGO Hanford, LIGO Livingston, Virgo, KAGRA, and GEO 600. These detectors collected data during their third observing run, O3, composed of three phases: O3a starting in 2019 April and lasting six months, O3b starting in 2019 November and lasting five months, and O3GK starting in 2020 April and lasting two weeks. In this paper we describe these data and various other science products that can be freely accessed through the Gravitational Wave Open Science Center at https://gwosc.org. The main data set, consisting of the gravitational-wave strain time series that contains the astrophysical signals, is released together with supporting data useful for their analysis and documentation, tutorials, as well as analysis software packages
Susceptibility to human herpesvirus-8 infection in a healthy population from Sardinia is not directly correlated with the expression of HLA-DR alleles
- Publication venue
- 'Wiley'
- Publication date
- Field of study
Classic Kaposi's sarcoma in Sardinia: HLA positive and negative associations
- Author
- Publication venue
- 'Wiley'
- Publication date
- Field of study
- …