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S

S. Cindy

Garvan Institute of Medical Research
H指数:69
被引数:1.6万

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Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function

白细胞中人E3泛素连接酶CBL的体细胞缺陷会损害b细胞，但不会损害T细胞的发育和功能

Nature Immunology
IF27.6
2026-01-150
OAAI
Taja Vatovec; Anna-Lena Neehus; Katherine J. L. Jackson; Danielle T. Avery; Ivan Bagarić; Lucia Erazo; Carlos A. Arango-Franco; Masato Ogishi; Syed F. Ahmed; Axel Cederholm; Amanda J. Russell; Erika Della Mina; Dena Al-Rifai; Rowena Bull; Lori Buetow; Steicy Sobrino; Allison Zhang; Lara Wahlster; Marine Michelet; Nima Parvaneh; Jessica Peel; Federica Barzaghi; Davide Leardini; Quentin Philippot; Francesco Saettini; Jacques Dutrieux; Benedicte de Muylder; Francesca Vendemini; Francesco Baccelli; Albert Catala; Eleonora Gambineri; Marinella Veltroni; Vignesh Pandiarajan; Yurena Aguilar; Filomeen Haerynck; Michael Elliott; Stuart Turville; Fabienne Brillot; Taushif Khan; Filippo Consonni; Laureline Berteloot; William A. Sewell; Geetha Rao; Laetitia Largeaud; Francesca Conti; Cecile Roullion; Cécile Masson; Francesco Pegoraro; Tianyi Ye; Samantha Joubran; Emily Villalpando; Boris Bessot; Yoann Seeleuthner; Tom Le Voyer; Jérémie Rosain; Hailun Li; Zarah Janda; Edoardo Muratore; Camille Soudée; Eric Delabesse; Claire Goulvestre; Mohammad Shahrooei; Anne Puel; Isabelle André; Christine Bole-Feysot; Laurent Abel; Miriam Erlacher; Vivien Béziat; Chantal Lagresle-Peyrou; Remi Cheynier; Emmanuelle Six; Nico Marr; Marlène Pasquet; Laia Alsina; Christopher C. Goodnow; Nils Landegren; Alessandro Aiuti; Peng Zhang; Riccardo Masetti; Danny T. Huang; Cindy S. Ma; Jean-Laurent Casanova; Vijay G. Sankaran; Jacinta Bustamante; Stuart G. Tangye; Jonathan Bohlen
Phase 2a/b randomised placebo-controlled dose-escalation trial of triheptanoin for ataxia-telangiectasia: treating mitochondrial dysfunction with anaplerosis

2a/b期随机、安慰剂对照剂量递增试验：三庚酸甘油酯治疗共济失调性毛细血管扩张症的线粒体功能障碍的填充代谢治疗

eBioMedicine
IF10.8
2025-07-040
PRE
Matthew Lynch; Sophie Manoy; Peter D. Sly; Claire E. Wainwright; Ernst Wolvetang; John E. Feenstra; Jason Dowling; Robert S. Ware; Maharshi S. Patel; Diana Hermith-Ramirez; Adam Vogel; Kahn Preece; Tania Zappala; Shuan Dai; Ann Webber; Abrey Yeo; Goutham Subramanian; Geetha Rao; Cindy S. Ma; Sara Jose; Magtouf Gatei; Bowen Xin; Nicoletta Sandona; Peter Lewindon; Katherine G. Sinclair; Sam Nayler; Martin F. Lavin; David J. Coman
Expanded T cell clones with lymphoma driver somatic mutations accumulate in refractory celiac disease

携带淋巴瘤驱动体细胞突变的扩展T细胞克隆在难治性乳糜泻中积累

SCIENCE TRANSLATIONAL MEDICINE
IF14.6
2025-05-140
PRE
Singh, Mandeep; Louie, Raymond H. Y.; Samir, Jerome; Field, Matthew A.; Milthorpe, Claire; Adikari, Thiruni; Mackie, Joseph; Roper, Ellise; Faulks, Megan; Jackson, Katherine J. L.; Calcino, Andrew; Hardy, Melinda Y.; Blombery, Piers; Amos, Timothy G.; Deveson, Ira W.; Wende, Helen Vander; Floor, Stephen N.; Read, Scott A.; Shek, Dmitri; Guerin, Antoine; Ma, Cindy S.; Tangye, Stuart G.; Lenti, Marco V.; Pasini, Alessandra; Ciccocioppo, Rachele; Ahlenstiel, Golo; Suan, Dan; Tye-Din, Jason A.; Goodnow, Christopher C.; Luciani, Fabio
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERIC-mediated monocyte activation

白细胞CBL杂合性丧失患者的自身炎症是由组成型ERIC介导的单核细胞激活引起的

JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2024-10-150
PRE
Bohlen, Jonathan; Bagaric, Ivan; Vatovec, Taja; Ogishi, Masato; Ahmed, Syed F.; Cederholm, Axel; Buetow, Lori; Sobrino, Steicy; Le Floc'h, Corentin; Arango-Franco, Carlos A.; Seabra, Luis; Michelet, Marine; Barzaghi, Federica; Leardini, Davide; Saettini, Francesco; Vendemini, Francesca; Baccelli, Francesco; Catala, Albert; Gambineri, Eleonora; Veltroni, Marinella; de la Red, Purena Aguilar; Rice, Gillian I.; Consonni, Filippo; Berteloot, Laureline; Largeaud, Laetitia; Conti, Francesca; Roullion, Cecile; Masson, Cecile; Bessot, Boris; Seeleuthner, Yoann; Le Voyer, Tom; Rinchai, Darawan; Rosain, Jeremie; Neehus, Anna-Lena; Erazo-Borras, Lucia; Li, Hailun; Janda, Zarah; Cho, En-Jui; Muratore, Edoardo; Soudee, Camille; Laine, Candice; Delabesse, Eric; Goulvestre, Claire; Ma, Cindy S.; Puel, Anne; Tangye, Stuart G.; Andre, Isabelle; Bole-Feysot, Christine; Abel, Laurent; Erlacher, Miriam; Zhang, Shen-Ping; Beziat, Vivien; Lagresle-Peyrou, Chantal; Six, Emmanuelle; Pasquet, Marlene; Alsina, Laia; Aiuti, Alessandro; Zhang, Peng; Crow, Yanick J.; Landegren, Nils; Masetti, Riccardo; Huang, Danny T.; Casanova, Jean-Laurent; Bustamante, Jacinta
IL-7-dependent and -independent lineages of IL-7R-dependent human T cells
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2024-10-010
OAAI
Arango-Franco, Carlos A.; Ogishi, Masato; Unger, Susanne; Delmonte, Ottavia M.; Orrego, Julio Cesar; Yatim, Ahmad; Velasquez-Lopera, Margarita M.; Zea-Vera, Andres F.; Bohlen, Jonathan; Chbihi, Marwa; Fayand, Antoine; Sanchez, Juan Pablo; Rojas, Julian; Seeleuthner, Yoann; Le Voyer, Tom; Philippot, Quentin; Payne, Kathryn J.; Gervais, Adrian; Erazo-Borras, Lucia, V; Correa-Londono, Luis A.; Cederholm, Axel; Gallon-Duque, Alejandro; Goncalves, Pedro; Doisne, Jean-Marc; Horev, Liran; Charmeteau-de Muylder, Benedicte; Alvarez, Jesus A.; Arboleda, Diana M.; Perez-Zapata, Lizet; Vasquez-Echeverri, Estefania; Moncada-Velez, Marcela; Lopez, Juan A.; Caicedo, Yolanda; Palterer, Boaz; Patino, Pablo J.; Montoya, Carlos J.; Chaldebas, Matthieu; Zhang, Peng; Nguyen, Tina; Ma, Cindy S.; Jeljeli, Mohamed; Alzate, Juan F.; Cabarcas, Felipe; Khan, Taushif; Rinchai, Darawan; Pretet, Jean-Luc; Boisson, Bertrand; Marr, Nico; Ibrahim, Ruba; Molho-Pessach, Vered; Boisson-Dupuis, Stephanie; Kiritsi, Dimitra; Barata, Joao T.; Landegren, Nils; Neven, Benedicte; Abe, Laurent; Lisco, Andrea; Beziat, Vivien; Jouanguy, Emmanuelle; Bustamante, Jacinta; Di Santo, James P.; Tangye, Stuart G.; Notarangelo, Luigi D.; Cheynier, Remi; Natsuga, Ken; Arias, Andres A.; Franco, Jose Luis; Warnatz, Klaus; Casanova, Jean-Laurent; Puel, Anne
Inherited human RelB deficiency impairs innate and adaptive immunity to infection

遗传性人类RelB缺乏症会损害对感染的先天和适应性免疫

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
2024-09-040
OAAI
Le Voyer, Tom; Renkilaraj, Majistor Raj Luxman Maglorius; Moriya, Kunihiko; Lorenzo, Malena Perez; Nguyen, Tina; Gao, Liwei; Rubin, Tamar; Cederholm, Axel; Ogishi, Masato; Franco, Carlos A. Arango-; Beziat, Vivien; Levy, Romain; Migaud, Melanie; Rapaport, Franck; Itan, Yuval; Deenick, Elissa K.; Cortese, Irene; Lisco, Andrea; Boztug, Kaan; Abel, Laurent; Boisson-Dupuis, Stephanie; Boisson, Bertrand; Frosk, Patrick; Ma, Cindy S.; Landegren, Nils; Celmeli, Fatih; Casanova, Jean- Laurent; Tangye, Stuart G.; Puel, Anne
A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries
JOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
2024-08-051
OAAI
Huynh, Aimee; Gray, Paul E.; Sullivan, Anna; Mackie, Joseph; Guerin, Antoine; Rao, Geetha; Pathmanandavel, Karrnan; Della Mina, Erika; Hollway, Georgina; Hobbs, Matthew; Enthoven, Karen; O'Young, Patrick; McManus, Sam; Wainwright, Luke H.; Higgins, Megan; Noon, Fallon; Wong, Melanie; Bastard, Paul; Zhang, Qian; Casanova, Jean-Laurent; Hsiao, Kuang-Chih; Pinzon-Charry, Alberto; Ma, Cindy S.; Tangye, Stuart G.
Helper T cell immunity in humans with inherited CD4 deficiency
JOURNAL OF EXPERIMENTAL MEDICINE
IF10.6
2024-04-013
OAAI
Guerin, Antoine; Moncada-Velez, Marcela; Jackson, Katherine; Ogishi, Masato; Rosain, Jeremie; Mancini, Mathieu; Langlais, David; Nunez, Andrea; Webster, Samantha; Goyette, Jesse; Khan, Taushif; Marr, Nico; Avery, Danielle T.; Rao, Geetha; Waterboer, Tim; Michels, Birgitta; Neves, Esmeralda; Morais, Catia Iracema; London, Jonathan; Mestrallet, Stephanie; Maire, Pierre Quartier Dit; Neven, Benedicte; Rapaport, Franck; Seeleuthner, Yoann; Lev, Atar; Simon, Amos J.; Montoya, Jorge; Barel, Ortal; Gomez-Rodriguez, Julio; Orrego, Julio C.; L'Honneur, Anne-Sophie; Soudee, Camille; Rojas, Jessica; Velez, Alejandra C.; Sereti, Irini; Terrier, Benjamin; Marin, Nancy; Garcia, Luis F.; Abel, Laurent; Boisson-Dupuis, Stephanie; Reis, Joel; Marinho, Antonio; Lisco, Andrea; Faria, Emilia; Goodnow, Christopher C.; Vasconcelos, Julia; Beziat, Vivien; Ma, Cindy S.; Somech, Raz; Casanova, Jean-Laurent; Bustamante, Jacinta; Franco, Jose Luis; Tangye, Stuart G.
Role of IL-27 in Epstein–Barr virus infection revealed by IL-27RA deficiency
Nature
IF48.5
2024-03-200
PRE
Emmanuel Martin; Sarah Winter; Cécile Garcin; Kay Tanita; Akihiro Hoshino; Christelle Lenoir; Benjamin Fournier; Mélanie Migaud; David Boutboul; Mathieu Simonin; Alicia Fernandes; Paul Bastard; Tom Le Voyer; Anne-Laure Roupie; Yassine Ben Ahmed; Marianne Leruez-Ville; Marianne Burgard; Geetha Rao; Cindy S. Ma; Cécile Masson; Claire Soudais; Capucine Picard; Jacinta Bustamante; Stuart G. Tangye; Nathalie Cheikh; Mikko Seppänen; Anne Puel; Mark Daly; Jean-Laurent Casanova; Bénédicte Neven; Alain Fischer; Sylvain Latour
A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome

AICDA中的一种新的杂合变体会损害人b细胞中的Ig类别转换和体细胞超突变，并与常染色体显性HIGM2综合征相关

JOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
2024-02-160
OAAI
Della Mina, Erika; Jackson, Katherine J. L.; Crawford, Alexander J. I.; Faulks, Megan L.; Pathmanandavel, Karrnan; Acquarola, Nicolino; O'Sullivan, Michael; Kerre, Tessa; Naesens, Leslie; Claes, Karlien; Goodnow, Christopher C.; Haerynck, Filomeen; Kracker, Sven; Meyts, Isabelle; D'Orsogna, Lloyd J.; Ma, Cindy S.; Tangye, Stuart G.
Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR)

丝聚蛋白相关的特应性皮肤，眼睛，气道和肠道疾病，改变X连锁网状色素性疾病 (XLPDR) 的表现

JOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
2024-01-022
PRE
Li, Margaret W. Y.; Burnett, Leslie; Dai, Pei; Avery, Danielle T.; Noori, Tahereh; Voskoboinik, Ilia; Shah, Parth R.; Tatian, Artiene; Tangye, Stuart G.; Gray, Paul E.; Ma, Cindy S.
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC

由于IL17RC的新型重复变体而引起的孤立的慢性粘膜皮肤念珠菌病

JOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
2023-12-220
OA
Noma, Kosuke; Tsumura, Miyuki; Nguyen, Tina; Asano, Takaki; Sakura, Fumiaki; Tamaura, Moe; Imanaka, Yusuke; Mizoguchi, Yoko; Karakawa, Shuhei; Hayakawa, Seiichi; Shoji, Takayo; Hosokawa, Junichi; Izawa, Kazushi; Ling, Yun; Casanova, Jean-Laurent; Puel, Anne; Tangye, Stuart G.; Ma, Cindy S.; Ohara, Osamu; Okada, Satoshi

研究方向

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S
Stuart G. Tangye
H 指数:109论文数:393被引数:4.5万
J
Jean‐Laurent Casanova
H 指数:171论文数:1,413被引数:11.9万
E
Elissa K. Deenick
H 指数:44论文数:104被引数:9,317
D
Danielle T. Avery
H 指数:43论文数:112被引数:9,620
J
Jacinta Bustamante
H 指数:87论文数:412被引数:3.6万
A
Anne Puel
H 指数:98论文数:414被引数:4.3万
L
Laurent Abel
H 指数:131论文数:663被引数:6.0万
K
Kathryn Payne
H 指数:22论文数:45被引数:1,854
S
Stéphanie Boisson‐Dupuis
H 指数:79论文数:241被引数:2.7万
G
Gülbû Uzel
H 指数:69论文数:235被引数:1.7万