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Expanded T cell clones with lymphoma driver somatic mutations accumulate in refractory celiac disease. Sci Transl Med. 2025 May 14; 17(798):eadp6812.
Singh M, Louie RHY, Samir J, Field MA, Milthorpe C, Adikari T, Mackie J, Roper E, Faulks M, Jackson KJL, Calcino A, Hardy MY, Blombery P, Amos TG, Deveson IW, Wende HV, Floor SN, Read SA, Shek D, Guerin A, Ma CS, Tangye SG, Di Sabatino A, Lenti MV, Pasini A, Ciccocioppo R, Ahlenstiel G, Suan D, Tye-Din JA, Goodnow CC, Luciani F. PMID: 40367192.
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3 Fields:
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HumansCells
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Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation. J Clin Invest. 2024 Oct 15; 134(20).
Bohlen J, Bagaric I, Vatovec T, Ogishi M, Ahmed SF, Cederholm A, Buetow L, Sobrino S, Le Floc'h C, Arango-Franco CA, Seabra L, Michelet M, Barzaghi F, Leardini D, Saettini F, Vendemini F, Baccelli F, Catala A, Gambineri E, Veltroni M, Aguilar de la Red Y, Rice GI, Consonni F, Berteloot L, Largeaud L, Conti F, Roullion C, Masson C, Bessot B, Seeleuthner Y, Le Voyer T, Rinchai D, Rosain J, Neehus AL, Erazo-Borrás L, Li H, Janda Z, Cho EJ, Muratore E, Soudée C, Lainé C, Delabesse E, Goulvestre C, Ma CS, Puel A, Tangye SG, André I, Bole-Feysot C, Abel L, Erlacher M, Zhang SY, Béziat V, Lagresle-Peyrou C, Six E, Pasquet M, Alsina L, Aiuti A, Zhang P, Crow YJ, Landegren N, Masetti R, Huang DT, Casanova JL, Bustamante J. PMID: 39403923; PMCID: PMC11475086.
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2 Fields:
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HumansCells
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Tuberculosis in otherwise healthy adults with inherited TNF deficiency. Nature. 2024 Sep; 633(8029):417-425.
Arias AA, Neehus AL, Ogishi M, Meynier V, Krebs A, Lazarov T, Lee AM, Arango-Franco CA, Yang R, Orrego J, Corcini Berndt M, Rojas J, Li H, Rinchai D, Erazo-Borrás L, Han JE, Pillay B, Ponsin K, Chaldebas M, Philippot Q, Bohlen J, Rosain J, Le Voyer T, Janotte T, Amarajeeva K, Soudée C, Brollo M, Wiegmann K, Marquant Q, Seeleuthner Y, Lee D, Lainé C, Kloos D, Bailey R, Bastard P, Keating N, Rapaport F, Khan T, Moncada-Vélez M, Carmona MC, Obando C, Alvarez J, Cataño JC, Martínez-Rosado LL, Sanchez JP, Tejada-Giraldo M, L'Honneur AS, Agudelo ML, Perez-Zapata LJ, Arboleda DM, Alzate JF, Cabarcas F, Zuluaga A, Pelham SJ, Ensser A, Schmidt M, Velásquez-Lopera MM, Jouanguy E, Puel A, Krönke M, Ghirardello S, Borghesi A, Pahari S, Boisson B, Pittaluga S, Ma CS, Emile JF, Notarangelo LD, Tangye SG, Marr N, Lachmann N, Salvator H, Schlesinger LS, Zhang P, Glickman MS, Nathan CF, Geissmann F, Abel L, Franco JL, Bustamante J, Casanova JL, Boisson-Dupuis S. PMID: 39198650; PMCID: PMC11390478.
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18 Fields:
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HumansCells
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FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice. Cell. 2024 05 23; 187(11):2817-2837.e31.
Momenilandi M, Lévy R, Sobrino S, Li J, Lagresle-Peyrou C, Esmaeilzadeh H, Fayand A, Le Floc'h C, Guérin A, Della Mina E, Shearer D, Delmonte OM, Yatim A, Mulder K, Mancini M, Rinchai D, Denis A, Neehus AL, Balogh K, Brendle S, Rokni-Zadeh H, Changi-Ashtiani M, Seeleuthner Y, Deswarte C, Bessot B, Cremades C, Materna M, Cederholm A, Ogishi M, Philippot Q, Beganovic O, Ackermann M, Wuyts M, Khan T, Fouéré S, Herms F, Chanal J, Palterer B, Bruneau J, Molina TJ, Leclerc-Mercier S, Prétet JL, Youssefian L, Vahidnezhad H, Parvaneh N, Claeys KG, Schrijvers R, Luka M, Pérot P, Fourgeaud J, Nourrisson C, Poirier P, Jouanguy E, Boisson-Dupuis S, Bustamante J, Notarangelo LD, Christensen N, Landegren N, Abel L, Marr N, Six E, Langlais D, Waterboer T, Ginhoux F, Ma CS, Tangye SG, Meyts I, Lachmann N, Hu J, Shahrooei M, Bossuyt X, Casanova JL, Béziat V. PMID: 38701783; PMCID: PMC11149630.
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12 Fields:
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HumansAnimalsCells
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Black cancer patients navigating a health-care system of racial discrimination. J Natl Cancer Inst. 2024 02 08; 116(2):258-263.
Garrett E, Ma C, Ochoa-Dominguez CY, Navarro S, Yoon P, Hughes Halbert C, Farias AJ. PMID: 37849350; PMCID: PMC10852748.
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10 Fields:
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Humans
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Psychosocial factors of insomnia in depression: a network approach. BMC Psychiatry. 2023 12 16; 23(1):949.
Zhang N, Ma S, Wang P, Yao L, Kang L, Wang W, Nie Z, Chen M, Ma C, Liu Z. PMID: 38104061; PMCID: PMC10725021.
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4 Fields:
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Humans
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Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency. Nature. 2023 11; 623(7988):803-813.
Le Voyer T, Parent AV, Liu X, Cederholm A, Gervais A, Rosain J, Nguyen T, Perez Lorenzo M, Rackaityte E, Rinchai D, Zhang P, Bizien L, Hancioglu G, Ghillani-Dalbin P, Charuel JL, Philippot Q, Gueye MS, Maglorius Renkilaraj MRL, Ogishi M, Soudée C, Migaud M, Rozenberg F, Momenilandi M, Riller Q, Imberti L, Delmonte OM, Müller G, Keller B, Orrego J, Franco Gallego WA, Rubin T, Emiroglu M, Parvaneh N, Eriksson D, Aranda-Guillen M, Berrios DI, Vong L, Katelaris CH, Mustillo P, Raedler J, Bohlen J, Bengi Celik J, Astudillo C, Winter S, NF-?B Consortium, COVID Human Genetic Effort, McLean C, Guffroy A, DeRisi JL, Yu D, Miller C, Feng Y, Guichard A, Béziat V, Bustamante J, Pan-Hammarström Q, Zhang Y, Rosen LB, Holland SM, Bosticardo M, Kenney H, Castagnoli R, Slade CA, Boztug K, Mahlaoui N, Latour S, Abraham RS, Lougaris V, Hauck F, Sediva A, Atschekzei F, Sogkas G, Poli MC, Slatter MA, Palterer B, Keller MD, Pinzon-Charry A, Sullivan A, Droney L, Suan D, Wong M, Kane A, Hu H, Ma C, Grombiríková H, Ciznar P, Dalal I, Aladjidi N, Hie M, Lazaro E, Franco J, Keles S, Malphettes M, Pasquet M, Maccari ME, Meinhardt A, Ikinciogullari A, Shahrooei M, Celmeli F, Frosk P, Goodnow CC, Gray PE, Belot A, Kuehn HS, Rosenzweig SD, Miyara M, Licciardi F, Servettaz A, Barlogis V, Le Guenno G, Herrmann VM, Kuijpers T, Ducoux G, Sarrot-Reynauld F, Schuetz C, Cunningham-Rundles C, Rieux-Laucat F, Tangye SG, Sobacchi C, Doffinger R, Warnatz K, Grimbacher B, Fieschi C, Berteloot L, Bryant VL, Trouillet Assant S, Su H, Neven B, Abel L, Zhang Q, Boisson B, Cobat A, Jouanguy E, Kampe O, Bastard P, Roifman CM, Landegren N, Notarangelo LD, Anderson MS, Casanova JL, Puel A. PMID: 37938781; PMCID: PMC10665196.
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53 Fields:
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HumansCells
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Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2. J Exp Med. 2023 06 05; 220(6).
Nguyen T, Lau A, Bier J, Cooke KC, Lenthall H, Ruiz-Diaz S, Avery DT, Brigden H, Zahra D, Sewell WA, Droney L, Okada S, Asano T, Abolhassani H, Chavoshzadeh Z, Abraham RS, Rajapakse N, Klee EW, Church JA, Williams A, Wong M, Burkhart C, Uzel G, Croucher DR, James DE, Ma CS, Brink R, Tangye SG, Deenick EK. PMID: 36943234; PMCID: PMC10037341.
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20 Fields:
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HumansAnimalsCells
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STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis. J Allergy Clin Immunol. 2022 10; 150(4):931-946.
Pelham SJ, Caldirola MS, Avery DT, Mackie J, Rao G, Gothe F, Peters TJ, Guerin A, Neumann D, Vokurkova D, Hwa V, Zhang W, Lyu SC, Chang I, Manohar M, Nadeau KC, Gaillard MI, Bezrodnik L, Iotova V, Zwirner NW, Gutierrez M, Al-Herz W, Goodnow CC, Vargas-Hernández A, Forbes Satter LR, Hambleton S, Deenick EK, Ma CS, Tangye SG. PMID: 35469842.
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17 Fields:
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Humans
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Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy. Cell. 2021 07 08; 184(14):3812-3828.e30.
Béziat V, Rapaport F, Hu J, Titeux M, Bonnet des Claustres M, Bourgey M, Griffin H, Bandet É, Ma CS, Sherkat R, Rokni-Zadeh H, Louis DM, Changi-Ashtiani M, Delmonte OM, Fukushima T, Habib T, Guennoun A, Khan T, Bender N, Rahman M, About F, Yang R, Rao G, Rouzaud C, Li J, Shearer D, Balogh K, Al Ali F, Ata M, Dabiri S, Momenilandi M, Nammour J, Alyanakian MA, Leruez-Ville M, Guenat D, Materna M, Marcot L, Vladikine N, Soret C, Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J, Catherinot É, Navabi SS, Zarhrate M, Woodley DT, Jeljeli M, Abraham T, Belkaya S, Lorenzo L, Rosain J, Bayat M, Lanternier F, Lortholary O, Zakavi F, Gros P, Orth G, Abel L, Prétet JL, Fraitag S, Jouanguy E, Davis MM, Tangye SG, Notarangelo LD, Marr N, Waterboer T, Langlais D, Doorbar J, Hovnanian A, Christensen N, Bossuyt X, Shahrooei M, Casanova JL. PMID: 34214472; PMCID: PMC8329841.
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53 Fields:
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HumansAnimalsCells
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Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child. Nat Med. 2021 09; 27(9):1646-1654.
Ogishi M, Yang R, Aytekin C, Langlais D, Bourgey M, Khan T, Ali FA, Rahman M, Delmonte OM, Chrabieh M, Zhang P, Gruber C, Pelham SJ, Spaan AN, Rosain J, Lei WT, Drutman S, Hellmann MD, Callahan MK, Adamow M, Wong P, Wolchok JD, Rao G, Ma CS, Nakajima Y, Yaguchi T, Chamoto K, Williams SC, Emile JF, Rozenberg F, Glickman MS, Rapaport F, Kerner G, Allington G, Tezcan I, Cagdas D, Hosnut FO, Dogu F, Ikinciogullari A, Rao VK, Kainulainen L, Béziat V, Bustamante J, Vilarinho S, Lifton RP, Boisson B, Abel L, Bogunovic D, Marr N, Notarangelo LD, Tangye SG, Honjo T, Gros P, Boisson-Dupuis S, Casanova JL. PMID: 34183838; PMCID: PMC8446316.
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62 Fields:
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HumansCells
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Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med. 2020 06 01; 217(6).
Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP, Undiagnosed Diseases Network, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A. PMID: 32207811; PMCID: PMC7971136.
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64 Fields:
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HumansCells
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Impact on mental health and perceptions of psychological care among medical and nursing staff in Wuhan during the 2019 novel coronavirus disease outbreak: A cross-sectional study. Brain Behav Immun. 2020 07; 87:11-17.
Kang L, Ma S, Chen M, Yang J, Wang Y, Li R, Yao L, Bai H, Cai Z, Xiang Yang B, Hu S, Zhang K, Wang G, Ma C, Liu Z. PMID: 32240764; PMCID: PMC7118532.
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PubMed Mentions:
660 Fields:
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HumansCellsPHPublic Health
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An essential role for the Zn2+ transporter ZIP7 in B cell development. Nat Immunol. 2019 03; 20(3):350-361.
Anzilotti C, Swan DJ, Boisson B, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berlinguer-Palmini R, Bull KR, Cawthorne E, Cribbs AP, Crockford TL, Dang TS, Fearn A, Fenech EJ, de Jong SJ, Lagerholm BC, Ma CS, Sims D, van den Berg B, Xu Y, Cant AJ, Kleiner G, Leahy TR, de la Morena MT, Puck JM, Shapiro RS, van der Burg M, Chapman JR, Christianson JC, Davies B, McGrath JA, Przyborski S, Santibanez Koref M, Tangye SG, Werner A, Rutter GA, Padilla-Parra S, Casanova JL, Cornall RJ, Conley ME, Hambleton S. PMID: 30718914; PMCID: PMC6561116.
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57 Fields:
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HumansAnimalsCells
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Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant. Sci Immunol. 2018 12 21; 3(30).
Boisson-Dupuis S, Ramirez-Alejo N, Li Z, Patin E, Rao G, Kerner G, Lim CK, Krementsov DN, Hernandez N, Ma CS, Zhang Q, Markle J, Martinez-Barricarte R, Payne K, Fisch R, Deswarte C, Halpern J, Bouaziz M, Mulwa J, Sivanesan D, Lazarov T, Naves R, Garcia P, Itan Y, Boisson B, Checchi A, Jabot-Hanin F, Cobat A, Guennoun A, Jackson CC, Pekcan S, Caliskaner Z, Inostroza J, Costa-Carvalho BT, de Albuquerque JAT, Garcia-Ortiz H, Orozco L, Ozcelik T, Abid A, Rhorfi IA, Souhi H, Amrani HN, Zegmout A, Geissmann F, Michnick SW, Muller-Fleckenstein I, Fleckenstein B, Puel A, Ciancanelli MJ, Marr N, Abolhassani H, Balcells ME, Condino-Neto A, Strickler A, Abarca K, Teuscher C, Ochs HD, Reisli I, Sayar EH, El-Baghdadi J, Bustamante J, Hammarström L, Tangye SG, Pellegrini S, Quintana-Murci L, Abel L, Casanova JL. PMID: 30578352; PMCID: PMC6341984.
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115 Fields:
Translation:
HumansCells
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Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23. Sci Immunol. 2018 12 21; 3(30).
Martínez-Barricarte R, Markle JG, Ma CS, Deenick EK, Ramírez-Alejo N, Mele F, Latorre D, Mahdaviani SA, Aytekin C, Mansouri D, Bryant VL, Jabot-Hanin F, Deswarte C, Nieto-Patlán A, Surace L, Kerner G, Itan Y, Jovic S, Avery DT, Wong N, Rao G, Patin E, Okada S, Bigio B, Boisson B, Rapaport F, Seeleuthner Y, Schmidt M, Ikinciogullari A, Dogu F, Tanir G, Tabarsi P, Bloursaz MR, Joseph JK, Heer A, Kong XF, Migaud M, Lazarov T, Geissmann F, Fleckenstein B, Arlehamn CL, Sette A, Puel A, Emile JF, van de Vosse E, Quintana-Murci L, Di Santo JP, Abel L, Boisson-Dupuis S, Bustamante J, Tangye SG, Sallusto F, Casanova JL. PMID: 30578351; PMCID: PMC6380365.
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107 Fields:
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HumansCells
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Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency. Nat Immunol. 2018 09; 19(9):973-985.
Kong XF, Martinez-Barricarte R, Kennedy J, Mele F, Lazarov T, Deenick EK, Ma CS, Breton G, Lucero KB, Langlais D, Bousfiha A, Aytekin C, Markle J, Trouillet C, Jabot-Hanin F, Arlehamn CSL, Rao G, Picard C, Lasseau T, Latorre D, Hambleton S, Deswarte C, Itan Y, Abarca K, Moraes-Vasconcelos D, Ailal F, Ikinciogullari A, Dogu F, Benhsaien I, Sette A, Abel L, Boisson-Dupuis S, Schröder B, Nussenzweig MC, Liu K, Geissmann F, Tangye SG, Gros P, Sallusto F, Bustamante J, Casanova JL. PMID: 30127434; PMCID: PMC6130844.
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PubMed Mentions:
59 Fields:
Translation:
HumansAnimalsCellsPHPublic Health
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Human plasma C3 is essential for the development of memory B, but not T, lymphocytes. J Allergy Clin Immunol. 2018 03; 141(3):1151-1154.e14.
Jiménez-Reinoso A, Marin AV, Subias M, López-Lera A, Román-Ortiz E, Payne K, Ma CS, Arbore G, Kolev M, Freeley SJ, Kemper C, Tangye SG, Fernández-Malavé E, Rodríguez de Córdoba S, López-Trascasa M, Regueiro JR. PMID: 29113906.
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14 Fields:
Translation:
HumansCells
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IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. Science. 2015 Aug 07; 349(6248):606-613.
Okada S, Markle JG, Deenick EK, Mele F, Averbuch D, Lagos M, Alzahrani M, Al-Muhsen S, Halwani R, Ma CS, Wong N, Soudais C, Henderson LA, Marzouqa H, Shamma J, Gonzalez M, Martinez-Barricarte R, Okada C, Avery DT, Latorre D, Deswarte C, Jabot-Hanin F, Torrado E, Fountain J, Belkadi A, Itan Y, Boisson B, Migaud M, Arlehamn CSL, Sette A, Breton S, McCluskey J, Rossjohn J, de Villartay JP, Moshous D, Hambleton S, Latour S, Arkwright PD, Picard C, Lantz O, Engelhard D, Kobayashi M, Abel L, Cooper AM, Notarangelo LD, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye SG, Casanova JL. PMID: 26160376; PMCID: PMC4668938.
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231 Fields:
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HumansAnimalsCells
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Genomewide analysis of aryl hydrocarbon receptor binding targets reveals an extensive array of gene clusters that control morphogenetic and developmental programs. Environ Health Perspect. 2009 Jul; 117(7):1139-46.
Sartor MA, Schnekenburger M, Marlowe JL, Reichard JF, Wang Y, Fan Y, Ma C, Karyala S, Halbleib D, Liu X, Medvedovic M, Puga A. PMID: 19654925; PMCID: PMC2717142.
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56 Fields:
Translation:
AnimalsCells
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The aryl hydrocarbon receptor at the crossroads of multiple signaling pathways. EXS. 2009; 99:231-57.
Ma C, Marlowe JL, Puga A. PMID: 19157064.
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18 Fields:
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HumansAnimalsCells
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The aryl hydrocarbon receptor cross-talks with multiple signal transduction pathways. Biochem Pharmacol. 2009 Feb 15; 77(4):713-22.
Puga A, Ma C, Marlowe JL. PMID: 18817753; PMCID: PMC2657192.
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160 Fields:
Translation:
HumansAnimalsCells