Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Bethany Pillay"'
Autor:
Leslie Burnett, John Reeves, Cindy S. Ma, Jennifer Stoddard, William A. Figgett, Helen C. Su, Jin Yan Yap, Gulbu Uzel, Huie Jing, Jane Peake, Paul Gray, Anna Sullivan, Bethany Pillay, Sarah K. Kummerfeld, Stuart G. Tangye, Dianne E. Campbell
Publikováno v:
Journal of Clinical Immunology. 42:119-129
Rare, biallelic loss-of-function mutations in DOCK8 result in a combined immune deficiency characterized by severe and recurrent cutaneous infections, eczema, allergies, and susceptibility to malignancy, as well as impaired humoral and cellular immun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1da611638dafa0a147054104104d32da
https://doi.org/10.1007/s10875-021-01152-x
https://doi.org/10.1007/s10875-021-01152-x
Autor:
Bethany Pillay, Elizabeth Klinken, Jonathan Chan, Lisa Worley, Ben A Wood, Andrew McLean-Tooke, Gulbu Uzel, Stuart G. Tangye, Bruce Bennetts, Kathryn Payne, Cindy S. Ma, Paul Gray, Emily S.J. Edwards, Dorothy Hung, Glenn M. Marshall, Richard Mitchell
Publikováno v:
Journal of Clinical Immunology. 40:299-309
Variants in MAGT1 have been identified as the cause of an immune deficiency termed X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection and neoplasia (XMEN) disease. Here, we describe 2 cases of XMEN disease due to nove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36e3cce4f18c1046d18b7f9b04034829
https://doi.org/10.1007/s10875-019-00732-2
https://doi.org/10.1007/s10875-019-00732-2
Autor:
Giorgia Bucciol, Bethany Pillay, Isabelle Meyts, Jose Casas-Martin, Leen Moens, Cindy S. Ma, Stuart G. Tangye
Publikováno v:
Immunology & Cell Biology. 97:389-402
Inherited defects in genes encoding for proteins that are involved in the assembly and dynamics of the actin skeleton have increasingly been identified in patients presenting with primary immunodeficiencies. In this review, we summarize a subset of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d697fe82c42e56674c48901a98e3c712
https://doi.org/10.1111/imcb.12243
https://doi.org/10.1111/imcb.12243
Autor:
Cindy S. Ma, Jordan S. Orange, John B. Ziegler, Danielle T. Avery, Bethany Pillay, Christopher C. Goodnow, Helen C. Su, Saul Oswaldo Lugo Reyes, Stuart G. Tangye, Alexandra F. Freeman, Sophie Hambleton, Gulbu Uzel, Jane Peake, Tri Giang Phan, Peter D. Arkwright, Paul Gray, Joanne Smart, Katrina L. Randall, Jean-Laurent Casanova
Publikováno v:
Journal of Allergy and Clinical Immunology. 139:933-949
Background Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency caused by autosomal recessive loss-of-function mutations in DOCK8 . This disorder is characterized by recurrent cutaneous infections, increased serum IgE levels,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8b4433039088e29890215059a72b0d74
https://doi.org/10.1016/j.jaci.2016.07.016
https://doi.org/10.1016/j.jaci.2016.07.016
Autor:
Giorgia Bucciol, Bethany Pillay, Rik Schrijvers, Cindy S. Ma, Stuart G. Tangye, Marijke Proesmans, Isabelle Meyts, Xavier Bossuyt, Selket Delafontaine, Jose Casas-Martin, Leen Moens, Johan Coolen, Natalie Lorent, Thomas Tousseyn
Publikováno v:
Journal of clinical immunology. 40(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1b600e2bc35be50569e03103106d4e4
https://pubmed.ncbi.nlm.nih.gov/31953712
https://pubmed.ncbi.nlm.nih.gov/31953712
Autor:
Frank Alvaro, Capucine Picard, Jean-Laurent Casanova, Melanie Wong, Bénédicte Neven, Cindy S. Ma, Damien Chan, John B. Ziegler, Alexandra F. Freeman, Richard Mitchell, Helen C. Su, Theresa Cole, Peter D. Arkwright, Peter Hsu, Jacinta Bustamante, Paul Gray, Stuart G. Tangye, Andrew J. Cant, Joanne Smart, Dennis D. Hickstein, Tri Giang Phan, Katie Frith, Dianne E. Campbell, Sharon Choo, Gulbu Uzel, Jane Peake, Nirali N. Shah, Danielle T. Avery, Bethany Pillay
Publikováno v:
Pillay, B, Avery, D T, Smart, J M, Cole, T, Choo, S, Chan, D, Gray, P, Mitchell, R, Wong, M, Campbell, D E, Hsu, P, Ziegler, J B, Peake, J, Alvaro, F, Picard, C, Bustamante, J, Neven, B, Cant, A J, Uzel, G, Arkwright, P, Casanova, J-L, Su, H C, Freeman, A, Shah, N, Hickstein, D D, Tangye, S G & Ma, C S 2019, ' Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients ', Journal of Clinical Investigation Insight . https://doi.org/10.1172/jci.insight.127527
Bi-allelic inactivating mutations in DOCK8 cause a combined immunodeficiency characterised by severe pathogen infections, eczema, allergies, malignancy and impaired humoral responses. These clinical features result from functional defects in most lym
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d8be046f9ad198b6c5a5fe2f1e5b354
https://doi.org/10.1172/jci.insight.127527
https://doi.org/10.1172/jci.insight.127527
Autor:
Warren J. Leonard, Nima Rezaei, Kathryn Payne, Isabelle Meyts, Laurent Abel, Cindy S. Ma, Marianne Leruez-Ville, Janet Chou, Alain Hovnanian, Jian-Xin Lin, Simon J. Pelham, Danielle T. Avery, Matthieu Bouaziz, Bethany Pillay, Tanwir Habib, Anne Puel, Sevgi Keles, Juan Li, Isabelle Pellier, Jamel El-Benna, Bernhard Fleckenstein, Ahmet Ozen, Vivien Béziat, Ingrid Müller-Fleckenstein, Damien Chaussabel, Samaneh Zoghi, Yi Wang, Paul Gray, Matthias Titeux, Yoann Zerbib, Talal A. Chatila, Marie-Alexandra Alyanakian, Capucine Picard, Orli Wargon, Ayper Somer, Marie-Olivia Chandesris, Thibaut Leclercq, Ibtihal Benhsaien, Aziz Belkadi, Jean-Laurent Casanova, Romain Lévy, Peng Li, Geetha Rao, Ai Ing Lim, James P. Di Santo, Nico Marr, Sylvie Fraitag, Frédégonde About, Elissa K. Deenick, Bertrand Boisson, Jacinta Bustamante, Mélanie Migaud, Bodo Grimbacher, Aziz Bousfiha, Fatima Ailal, Safa Baris, Antoine Guérin, Stuart G. Tangye, Romain Guery, Ning Du, Vimel Rattina
Publikováno v:
Science Immunology
Science Immunology, American Association for the Advancement of Science, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Science Immunology, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Science Immunology, American Association for the Advancement of Science, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Science Immunology, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Comment in :Who regulates whom: ZNF341 is an additional player in the STAT3/TH17 song. [Sci Immunol. 2018]; International audience; Heterozygosity for human signal transducer and activator of transcription 3 (STAT3) dominant-negative (DN) mutations u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a014e03bf19bbdfb4eb205a53e190a3a
https://doi.org/10.1126/sciimmunol.aat4956
https://doi.org/10.1126/sciimmunol.aat4956
Autor:
Alex A. Phrakaysone, Allison C. Gee, Stefanie Jarolim, Michael Breitenbach, Ian W. Dawes, Bethany Pillay, Anita Ayer, Gabriel G. Perrone
Publikováno v:
G3: Genes|Genomes|Genetics
The heat-shock response in cells, involving increased transcription of a specific set of genes in response to a sudden increase in temperature, is a highly conserved biological response occurring in all organisms. Despite considerable attention to th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86e467e1c8a2145dafa4688d7f4a904
https://doi.org/10.1534/g3.113.007971
https://doi.org/10.1534/g3.113.007971
Autor:
Stuart G, Tangye, Bethany, Pillay, Katrina L, Randall, Danielle T, Avery, Tri Giang, Phan, Paul, Gray, John B, Ziegler, Joanne M, Smart, Jane, Peake, Peter D, Arkwright, Sophie, Hambleton, Jordan, Orange, Christopher C, Goodnow, Gulbu, Uzel, Jean-Laurent, Casanova, Saul Oswaldo, Lugo Reyes, Alexandra F, Freeman, Helen C, Su, Cindy S, Ma
Publikováno v:
The Journal of allergy and clinical immunology. 139(3)
Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency caused by autosomal recessive loss-of-function mutations in DOCK8. This disorder is characterized by recurrent cutaneous infections, increased serum IgE levels, and severe a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a6fd57aeef73408956d50ea8b0fbc8dd
https://pubmed.ncbi.nlm.nih.gov/27554822
https://pubmed.ncbi.nlm.nih.gov/27554822
Autor:
Bethany Pillay, Mayfebelle Reodica, Ian W. Dawes, Gino Heeren, Michael J. Davies, Geoffrey W. Thorpe, Michael Breitenbach, Stefanie Jarolim, Vincent J. Higgins
Publikováno v:
Molecular Biology of the Cell
H2O2-stressed yeast cells increase superoxide radical production, dependent on the mitochondrial respiratory chain. This is protective during H2O2 stress at low levels; however, higher superoxide levels are deleterious. This hormesis may further eluc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3f9c2e39ce56fb5507fde44ab450f63
https://pubmed.ncbi.nlm.nih.gov/23864711
https://pubmed.ncbi.nlm.nih.gov/23864711