Elevated inflammatory responses and targeted therapeutic intervention in a preclinical mouse model of ataxia-telangiectasia lung disease

Autor: Courtney Hames, Thomas F. Michniacki, Andrea J. Hartlerode, Rudel A. Saunders, Carol A. Wilke, Hilary A. Moale, JoAnn Sekiguchi, Bethany B. Moore, Molly E. Kuo, Johnathan Nguyen

Publikováno v: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)

Ataxia-telangiectasia (A-T) is an autosomal recessive, multisystem disorder characterized by cerebellar degeneration, cancer predisposition, and immune system defects. A major cause of mortality in A-T patients is severe pulmonary disease; however, t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87bbea8b5f636f3cc7c7dff97112f76d
https://doi.org/10.1038/s41598-021-83531-3

GATA3 Abundance Is a Critical Determinant of T Cell Receptor β Allelic Exclusion

Autor: Satoru Takahashi, Ivan Maillard, Bharat Panwar, JoAnn Sekiguchi, Keigyou Yoh, Tomonori Hosoya, Yuanfang Guan, Chia Jui Ku, James Douglas Engel

Publikováno v: Molecular and cellular biology. 37(12)

Allelic exclusion describes the essential immunological process by which feedback repression of sequential DNA rearrangements ensures that only one autosome expresses a functional T or B cell receptor. In wild-type mammals, approximately 60% of cells

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db52cb286413db9ad0ce6c6c16591d2a
https://pubmed.ncbi.nlm.nih.gov/28320875

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Autor: Elizabeth Garner, Gokul Ramaswami, Sharon P. Andreoli, Colin A. Johnson, Stef J.F. Letteboer, Rudel A. Saunders, Stéphanie Le Corre, Heon Yung Gee, Agata Smogorzewska, Ali A. Al-Rajhi, Friedhelm Hildebrandt, Weibin Zhou, Dan G. Doherty, K. Vanselow, Gerd Walz, Joseph G. Gleeson, Bernhard Schermer, Rui Chen, Ranjani Sri Ganji, Peter Nürnberg, Christelle Golzio, Max C. Liebau, Anna Lindstrad, Moumita Chaki, Irma Lopez, Rachel H. Giles, Ronald Roepman, Shaohui Wang, John F. O’Toole, Takayuki Yasunaga, Nicholas Katsanis, Hélène Dollfus, Sivakumar Natarajan, Rannar Airik, Amiya K. Ghosh, Igor Cervenka, Hervé Husson, Heleen H. Arts, John A. Sayer, JoAnn Sekiguchi, Lars Pape, Gisela G. Slaats, Chen Jei Hong, Oxana Ibraghimov-Beskrovnaya, Hui Wang, Massimo Attanasio, Thomas Benzing, Edgar A. Otto, Gudrun Nürnberg, Iain A. Drummond, Emad B. Abboud, Vitezslav Bryja, Jeroen van Reeuwijk, Ahmet Nayir, Huanan Ren, Corinne Antignac, Joseph Shlomai, Robert K. Koenekoop, Lorraine Eley, Toby W. Hurd, Rustin Massoudi, Sophie Saunier, Sabine Janssen, Andrew Cluckey, Jens S. Andersen, Susan J. Allen, Eva Y.-H. P. Lee, Machteld M. Oud, Heymut Omran, Corinne Stoetzel, Bruce A. Hamilton, Richard A. Lewis, Shawn Levy

Publikováno v: Chaki, M, Airik, R, Ghosh, A K, Giles, R H, Chen, R, Slaats, G G, Wang, H, Hurd, T W, Zhou, W, Cluckey, A, Gee, H Y, Ramaswami, G, Hong, C-J, Hamilton, B A, Cervenka, I, Ganji, R S, Bryja, V, Arts, H H, van Reeuwijk, J, Oud, M M, Letteboer, S J F, Roepman, R, Husson, H, Ibraghimov-Beskrovnaya, O, Yasunaga, T, Walz, G, Eley, L, Sayer, J A, Schermer, B, Liebau, M C, Benzing, T, Le Corre, S, Drummond, I, Janssen, S, Allen, S J, Natarajan, S, O'Toole, J F, Attanasio, M, Saunier, S, Antignac, C, Koenekoop, R K, Ren, H, Lopez, I, Nayir, A, Stoetzel, C, Dollfus, H, Massoudi, R, Gleeson, J G, Andreoli, S P, Doherty, D G, Lindstrad, A, Golzio, C, Katsanis, N, Pape, L, Abboud, E B, Al-Rajhi, A A, Lewis, R A, Omran, H, Lee, E Y-H P, Wang, S, Sekiguchi, J M, Saunders, R, Johnson, C A, Garner, E, Vanselow, K, Andersen, J S, Shlomai, J, Nurnberg, G, Nurnberg, P, Levy, S, Smogorzewska, A, Otto, E A & Hildebrandt, F 2012, ' Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling ', Cell Stem Cell, vol. 150, no. 3, pp. 533-48 . https://doi.org/10.1016/j.cell.2012.06.028
Chaki, M, Airik, R, Ghosh, A K, Giles, R H, Chen, R, Slaats, G G, Wang, H, Hurd, T W, Zhou, W, Cluckey, A, Gee, H Y, Ramaswami, G, Hong, C-J, Hamilton, B A, Cervenka, I, Ganji, R S, Bryja, V, Arts, H H, van Reeuwijk, J, Oud, M M, Letteboer, S J F, Roepman, R, Husson, H, Ibraghimov-Beskrovnaya, O, Yasunaga, T, Walz, G, Eley, L, Sayer, J A, Schermer, B, Liebau, M C, Benzing, T, Le Corre, S, Drummond, I, Janssen, S, Allen, S J, Natarajan, S, O'Toole, J F, Attanasio, M, Saunier, S, Antignac, C, Koenekoop, R K, Ren, H, Lopez, I, Nayir, A, Stoetzel, C, Dollfus, H, Massoudi, R, Gleeson, J G, Andreoli, S P, Doherty, D G, Lindstrad, A, Golzio, C, Katsanis, N, Pape, L, Abboud, E B, Al-Rajhi, A A, Lewis, R A, Omran, H, Lee, E Y-H P, Wang, S, Sekiguchi, J M, Saunders, R, Johnson, C A, Garner, E, Vanselow, K, Andersen, J S, Shlomai, J, Nurnberg, G, Nurnberg, P, Levy, S, Smogorzewska, A, Otto, E A & Hildebrandt, F 2012, ' Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling ', Cell, vol. 150, no. 3, pp. 533-548 . https://doi.org/10.1016/j.cell.2012.06.028
Cell; Vol 150
Cell, 150, 533-48
Cell, 150, 3, pp. 533-48

Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina and brain. Genetic defects in NPHP gene products that localize to cilia and centrosomes defined them as ‘ciliopathies’. However, diseas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeb5f62a57a586765667cd76396c933f

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

Autor: Harry L. Malech, Jennifer M. Puck, Tiziana Paganini, Laura Patrizi, Morton J. Cowan, Marton Keszei, Javier Chinen, Naynesh Kamani, Itai M. Pessach, Waleed Al-Herz, Jolan E. Walter, Cynthia Detre, Fabio Facchetti, Mike Recher, Emma Andersson, Frederick W. Alt, Silvia Giliani, Francesca Rucci, Philipp A. Lang, Catharina Schuetz, JoAnn Sekiguchi, Suk See DeRavin, Tim Niehues, Hamid M. Alenezi, Srdjan Pasic, Stephan Regenass, Jack H. Bleesing, Luigi D. Notarangelo, Ghassan Dbaibo, Andrew R. Gennery, Gehad ElGhazali, Adriano Fontana, Pietro Luigi Poliani, Cox Terhorst

Publikováno v: The Journal of experimental medicine, vol 207, iss 7
The Journal of Experimental Medicine

The contribution of B cells to the pathology of Omenn syndrome and leaky severe combined immunodeficiency (SCID) has not been previously investigated. We have studied a mut/mut mouse model of leaky SCID with a homozygous Rag1 S723C mutation that impa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::075b4f7fd02588ce703fb99d60b6d158
https://doi.org/10.1084/jem.20091927

Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation

Autor: William Giblin, Frederick W. Alt, Tehmina Masud, Jeffrey DeVido, Monalisa Chatterji, David G. Schatz, JoAnn Sekiguchi, Hwei Ling Cheng, David O. Ferguson, Brian K. Theisen, Gerwin Westfield

Publikováno v: Blood. 113:2965-2975

The RAG1/2 endonuclease initiates programmed DNA rearrangements in progenitor lymphocytes by generating double-strand breaks at specific recombination signal sequences. This process, known as V(D)J recombination, assembles the vastly diverse antigen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43b293036c60f51683857d63495094e5
https://doi.org/10.1182/blood-2008-07-165167