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BET inhibition prevents aberrant RUNX1 and ERG transcription in STAG2 mutant leukaemia cells

Journal of Molecular Cell Biology 2020年第5期12卷 397-399页

作者： Jisha Antony Gregory Gimenez terry taylor Umaima Khatoon Robert Day Ian MMorison Julia AHorsfield Department of Pathology Dunedin School of MedicineUniversity of OtagoDunedin 9016New Zealand Maurice Wilkins Centre for Molecular Biodiscovery The University of AucklandPrivate Bag 92019AucklandNew Zealand Southern Community Laboratories Dunedin 9016New Zealand Department of Biochemistry University of OtagoDunedin 9054New Zealand

Cohesin is a multiprotein complex that not only is essential for cell division but also has key roles in genome organization that underpin its gene regulatory *** mutations of genes encoding cohesin subunits occur in myeloid malignancies at 10%–12%(Kon et al.,2013),and the frequency of cohesin mutation in Down syndrome-associated megakaryoblastic leukaemia is even higher(~50%)(Yoshida et al.,2013).Cohesin insufficiency reinforces stem cell programmes and impairs differentiation in haematopoietic stem cells(Mazumdar et al.,2015;Mullenders et al.,2015;Viny et al.,2015).The STAG2 subunit of cohesin is the most frequently mutated in myeloid malignancies(Kon et al.,2013).In contrast to other cohesin subunits,complete loss of STAG2 is tolerated due to partial compensation by ***2 and STAG1 have redundant roles in cell division(Benedetti et al.,2017;van der Lelij et al.,2017).However,cohesin-STAG1 and cohesin-STAG2 have non-redundant roles in facilitating 3D genome organization to delineate tissue-specific gene expression(Kojic et al.,2018).

关键词： function. redundant

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Author Correction: Disrupted Ca2+ homeostasis and immunodeficiency in patients with functional IP3 receptor subtype 3 defects

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Cellular & Molecular Immunology 2023年第1期20卷 114-114页

作者： Julika Neumann Erika Van Nieuwenhove Lara E.terry Frederik Staels taylor R.Knebel Kirsten Welkenhuyzen Kourosh Ahmadzadeh Mariah R.Baker Margaux Gerbaux Mathijs Willemsen John S.Barber Irina I.Serysheva Liesbeth De Waele François Vermeulen Susan Schlenner Isabelle Meyts David I.Yule Geert Bultynck Rik Schrijvers Stephanie Humblet-Baron Adrian Liston VIB Center for Brain and Disease Research Leuven Belgium Department of Microbiology and Immunology KU Leuven Leuven Belgium UZ Leuven Leuven Belgium Immunology Programme The Babraham Institute Babraham Research Campus Cambridge CB22 3AT UK Pediatric Department Academic Children Hospital Queen Fabiola Université Libre de Bruxelles Brussels Belgium Laboratory for Inborn Errors of Immunity Department of Immunology and Microbiology KU Leuven Leuven Belgium Laboratory for Allergy and Clinical Immunology and Immunogenetics Research Group Department of Microbiology Immunology and Transplantation KU Leuven Leuven Belgium Department of Pharmacology and Physiology University of Rochester Rochester NY 14526 USA Laboratory of Molecular and Cellular Signaling Department of Cellular and Molecular Medicine Leuven Kankerinstituut KU Leuven Leuven Belgium Laboratory of Immunobiology Department Microbiology and Immunology Rega Institute KU Leuven Leuven Belgium Department of Biochemistry and Molecular Biology Structural Biology Imaging Center McGovern Medical School at The University of Texas Health Science Center at Houston Houston TX 77030 USA Department of Pediatric Neurology University Hospitals Leuven Leuven Belgium Department of Pulmonology University Hospitals Leuven Leuven Belgium

In this article the statement in the Acknowledgements section was incorrectly given as “MRB and IIS are supported by the NIH R01GM080139 grant (to IIS), the Welch Foundation Research Grant AU-2014-20190331 (to IIS), and the American Heart Association grant 18CDA34110086 (to MRB)” and should have been, “MRB and IIS are supported by the NIH R01GM072804 grant (to IIS), the Welch Foundation Research Grant AU-2014-20190331 (to IIS), and the American Heart Association grant 18CDA34110086 (to MRB).”

关键词： IIS statement knowledge

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Disrupted Ca^(2+) h homeostasis and immunodeficiency in patients with functional IP_(3) receptor subtype 3 defects

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Cellular & Molecular Immunology 2023年第1期20卷 11-25页

作者： Julika Neumann Erika Van Nieuwenhove Lara E.terry Frederik Staels taylor R.Knebel Kirsten Welkenhuyzen Kourosh Ahmadzadeh Mariah R.Baker Margaux Gerbaux Mathijs Willemsen John S.Barber Irina I.Serysheva Liesbeth De Waele François Vermeulen Susan Schlenner Isabelle Meyts David IYule Geert Bultynck Rik Schrijvers Stephanie Humblet-Baron Adrian Liston VIB Center for Brain and Disease Research LeuvenBelgium Department of Microbiology and Immunology KU LeuvenLeuvenBelgium UZ Leuven LeuvenBelgium Department of Pharmacology and Physiology University of RochesterRochesterNY14526USA Laboratory of Molecular and Cellular Signaling Department of Cellular and Molecular MedicineLeuven KankerinstituutKU LeuvenLeuvenBelgium Laboratory of Immunobiology Department Microbiology and ImmunologyRega InstituteKU LeuvenLeuvenBelgium Department of Biochemistry and Molecular Biology Structural Biology Imaging CenterMcGovern Medical School at The University of Texas Health Science Center at HoustonHoustonTX77030USA Pediatric Department Academic Children Hospital Queen FabiolaUniversitéLibre de BruxellesBrusselsBelgium Department of Pediatric Neurology University Hospitals LeuvenLeuvenBelgium Department of Pulmonology University Hospitals LeuvenLeuvenBelgium Laboratory for Inborn Errors of Immunity Department of Immunology and MicrobiologyKU LeuvenLeuvenBelgium Laboratory for Allergy and Clinical Immunology and Immunogenetics Research Group Department of MicrobiologyImmunology and TransplantationKU LeuvenLeuvenBelgium Immunology Programme The Babraham InstituteBabraham Research CampusCambridgeCB223ATUK

Calcium signaling is essential for lymphocyte activation, with genetic disruptions of store-operated calcium (Ca^(2+)) entry resulting in severe immunodeficiency. The inositol 1,4,5-trisphosphate receptor (IP_(3)R), a homo- or heterotetramer of the IP_(3)R1-3 isoforms, amplifies lymphocyte signaling by releasing Ca^(2+) from endoplasmic reticulum stores following antigen stimulation. Although knockout of all IP_(3)R isoforms in mice causes immunodeficiency, the seeming redundancy of the isoforms is thought to explain the absence of variants in human immunodeficiency. In this study, we identified compound heterozygous variants of ITPR3 (a gene encoding IP_(3)R subtype 3) in two unrelated Caucasian patients presenting with immunodeficiency. To determine whether ITPR3 variants act in a nonredundant manner and disrupt human immune responses, we characterized the Ca^(2+) signaling capacity, the lymphocyte response, and the clinical phenotype of these patients. We observed disrupted Ca^(2+) signaling in patient-derived fibroblasts and immune cells, with abnormal proliferation and activation responses following T-cell receptor stimulation. Reconstitution of IP_(3)R3 in IP_(3)R knockout cell lines led to the identification of variants as functional hypomorphs that showed reduced ability to discriminate between homeostatic and induced states, validating a genotype–phenotype link. These results demonstrate a functional link between defective endoplasmic reticulum Ca^(2+) channels and immunodeficiency and identify IP_(3)Rs as diagnostic targets for patients with specific inborn errors of immunity. These results also extend the known cause of Ca^(2+)-associated immunodeficiency from store-operated entry to impaired Ca^(2+) mobilization from the endoplasmic reticulum, revealing a broad sensitivity of lymphocytes to genetic defects in Ca^(2+) signaling.

关键词： Primary immunodeficiency Calcium signalling Whole exome sequencing

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温哥华公寓

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城市环境设计 2019年第2期118卷 210-219页

作者： Carl McDonald Melissa Bauld Aaron Mark Alan Tansey Alex Wu Alexandra Gustafsson Alina Tamosiunaite Amina Blacksher Aran Coakley Arash Adel Ahmadian Armen Menendian Barbora Srpkova Ben Zunkeler Benjamin Caldwell Benjamin Novacinski Bennett Gale Birk Daugaard Blake Theodore Smith Brian Foster Brian Rome Carolien Schippers Christopher James Malcolm Jr. Christopher Junkin Christopher Tron David Brown David Dottelonde Deborah Campbell Doug Stechschulte Douglass Alligood Edward Yung Elena Bresciani Filip Milovanovic Francesca Portesine Gabriel Hernandez Solano Gabriel Jewell-Vitale Hector Garcia Ivy Hume Jan Leenknegt Janice Rim John Kim Josiah Poland Julian Liang Julianne Gola Julie Kaufman Karol Bogdan Borkowski Kurt Nieminen Lauren Turner Lorenz Krisai Lucio Santos Marcella Martinez Martin Voelkle Matthew Dlugosz Megan Ng Michael Robert taylor Otilia Pupezeanu Paula Domka Phillip MacDougall Ryan Yang Sean Franklin Sebastian Grogaard Simon Scheller Spencer Hayden taylor Fulton Terrence Chew terry Lallak Thomas Smith Tianqi Zhang Tobias Hjortdal Tran Le Valentina Mele Xinyu Wang Yaziel Juarbe Yoanna Shivarova Zach Walters Zhifei Xu Andrew Latreille Glotman Simpson Urban YVR 运小红

温哥华公寓的建成预示着这个年轻的城市正在打开城市政策制定的新局面。它将成为从Granville大桥进入温哥华市中心的城市大门。塔楼和群房的设计是对新城市主义地域类型中的"温哥华主义"建筑的全新解读,配合一座纤细的塔楼,试图保留城... 详细信息

温哥华公寓的建成预示着这个年轻的城市正在打开城市政策制定的新局面。它将成为从Granville大桥进入温哥华市中心的城市大门。塔楼和群房的设计是对新城市主义地域类型中的"温哥华主义"建筑的全新解读,配合一座纤细的塔楼,试图保留城市视觉通廊并激活步行通道。住宅塔楼借助高度和毗邻河流的地理位置,是唯一可以同时享受水景和山景的建筑,坐拥温哥华广袤的自然风光。

关键词：温哥华平面图 Dialog 立面图

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