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Items: 1 to 20 of 322

1.
Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation
Lina Ghaloul-Gonzalez, Al-Walid Mohsen, Anuradha Karunanidhi, Bianca Seminotti, Hey Chong, Suneeta Madan-Khetarpal, Jessica Sebastian, Catherine Walsh Vockley, Miguel Reyes-Múgica, Mark T. Vander Lugt, Jerry Vockley
Sci Rep. 2019; 9: 15739. Published online 2019 Oct 31. doi: 10.1038/s41598-019-51922-2
PMCID:
PMC6823482
AbstractArticlePDF–1.7M
2.
Reticular dysgenesis–associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress
Alberto Rissone, Katja Gabriele Weinacht, Giancarlo la Marca, Kevin Bishop, Elisa Giocaliere, Jayashree Jagadeesh, Kerstin Felgentreff, Kerry Dobbs, Waleed Al-Herz, Marypat Jones, Settara Chandrasekharappa, Martha Kirby, Stephen Wincovitch, Karen Lyn Simon, Yuval Itan, Alex DeVine, Thorsten Schlaeger, Axel Schambach, Raman Sood, Luigi D. Notarangelo, Fabio Candotti
J Exp Med. 2015 Jul 27; 212(8): 1185–1202. doi: 10.1084/jem.20141286
PMCID:
PMC4516804
AbstractArticlePDF–4.5M
3.
B cells and monocytes are not developmentally affected in a case of reticular dysgenesis
O DE LA CALLE-MARTÍN, I BADELL, A GARCÍA, C GELPÍ, N CASAMITJANA, J ESTELLA, J L RODRÍGUEZ-SÁNCHEZ
Clin Exp Immunol. 1997 Dec; 110(3): 392–396. doi: 10.1046/j.1365-2249.1997.4341453.x
PMCID:
PMC1904810
SummaryPDF–288K
4.
Reticular dysgenesis: report of two brothers.
T Español, J Compte, C Alvarez, N Tallada, R Laverde, G Peguero
Clin Exp Immunol. 1979 Dec; 38(3): 615–620.
PMCID:
PMC1537907
SummaryPage BrowsePDF–1.6M
5.
Reticular dysgenesis caused by an intronic pathogenic variant in AK2
Shoji Ichikawa, Susan Prockop, Charlotte Cunningham-Rundles, Travis Sifers, Blair R. Conner, Sitao Wu, Rachid Karam, Michael F. Walsh, Elise Fiala
Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a005017. doi: 10.1101/mcs.a005017
PMCID:
PMC7304357
AbstractArticlePDF–1.1M
6.
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome
Manfred Hoenig, Chantal Lagresle-Peyrou, Ulrich Pannicke, Luigi D. Notarangelo, Fulvio Porta, Andrew R. Gennery, Mary Slatter, Morton J. Cowan, Polina Stepensky, Hamoud Al-Mousa, Daifulah Al-Zahrani, Sung-Yun Pai, Waleed Al Herz, Hubert B. Gaspar, Paul Veys, Koichi Oshima, Kohsuke Imai, Hiromasa Yabe, Lenora M. Noroski, Nico M. Wulffraat, Karl-Walter Sykora, Pere Soler-Palacin, Hideki Muramatsu, Mariam Al Hilali, Despina Moshous, Klaus-Michael Debatin, Catharina Schuetz, Eva-Maria Jacobsen, Ansgar S. Schulz, Klaus Schwarz, Alain Fischer, Wilhelm Friedrich, Marina Cavazzana
Blood. 2017 May 25; 129(21): 2928–2938. Prepublished online 2017 Mar 22. doi: 10.1182/blood-2016-11-745638
PMCID:
PMC5445572
AbstractArticle
7.
AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages
E Six, C Lagresle-Peyrou, S Susini, C De Chappedelaine, N Sigrist, H Sadek, M Chouteau, N Cagnard, M Fontenay, O Hermine, C Chomienne, P Reynier, A Fischer, I André-Schmutz, N Gueguen, M Cavazzana
Cell Death Dis. 2015 Aug; 6(8): e1856. Published online 2015 Aug 13. doi: 10.1038/cddis.2015.211
PMCID:
PMC4558504
AbstractArticlePDF–2.1M
8.
Differential Expression of Adenine Nucleotide Converting Enzymes in Mitochondrial Intermembrane Space: A Potential Role of Adenylate Kinase Isozyme 2 in Neutrophil Differentiation
Ayako Tanimura, Taigo Horiguchi, Keiko Miyoshi, Hiroko Hagita, Takafumi Noma
PLoS One. 2014; 9(2): e89916. Published online 2014 Feb 25. doi: 10.1371/journal.pone.0089916
Correction in:
PLoS One. 2014; 9(5): e99247.
PMCID:
PMC3934953
AbstractArticlePDF–3.7M
9.
Human adenylate kinase 2 deficiency causes a profound haematopoietic defect associated with sensorineural deafness
Chantal Lagresle-Peyrou, Emmanuelle M. Six, Capucine Picard, Frédéric Rieux-Laucat, Vincent Michel, Andrea Ditadi, Corinne Demerens-de Chappedelaine, Estelle Morillon, Françoise Valensi, Karen L. Simon-Stoos, James C. Mullikin, Lenora M. Noroski, Céline Besse, Nicolas M. Wulffraat, Alina Ferster, Manuel M. Abecasis, Fabien Calvo, Christine Petit, Fabio Candotti, Laurent Abel, Alain Fischer, Marina Cavazzana-Calvo
Nat Genet. Author manuscript; available in PMC 2010 Jan 1.
Published in final edited form as: Nat Genet. 2009 Jan; 41(1): 106–111. Published online 2008 Nov 30. doi: 10.1038/ng.278
PMCID:
PMC2612090
AbstractArticlePDF–2.3M
10.
Immune reconstitution and survival of 100 SCID patients post–hematopoietic cell transplant: a PIDTC natural history study
Jennifer Heimall, Brent R. Logan, Morton J. Cowan, Luigi D. Notarangelo, Linda M. Griffith, Jennifer M. Puck, Donald B. Kohn, Michael A. Pulsipher, Suhag Parikh, Caridad Martinez, Neena Kapoor, Richard O’Reilly, Michael Boyer, Sung-Yun Pai, Frederick Goldman, Lauri Burroughs, Sharat Chandra, Morris Kletzel, Monica Thakar, James Connelly, Geoff Cuvelier, Blachy J. Davila Saldana, Evan Shereck, Alan Knutsen, Kathleen E. Sullivan, Kenneth DeSantes, Alfred Gillio, Elie Haddad, Aleksandra Petrovic, Troy Quigg, Angela R. Smith, Elizabeth Stenger, Ziyan Yin, William T. Shearer, Thomas Fleisher, Rebecca H. Buckley, Christopher C. Dvorak
Blood. 2017 Dec 21; 130(25): 2718–2727. Prepublished online 2017 Oct 11. doi: 10.1182/blood-2017-05-781849
PMCID:
PMC5746165
AbstractArticle
11.
Adenylate Kinase and AMP Signaling Networks: Metabolic Monitoring, Signal Communication and Body Energy Sensing
Petras Dzeja, Andre Terzic
Int J Mol Sci. 2009 Apr; 10(4): 1729–1772. Published online 2009 Apr 17. doi: 10.3390/ijms10041729
PMCID:
PMC2680645
AbstractArticlePDF–671K
12.
A model for reticular dysgenesis shows impaired sensory organ development and hair cell regeneration linked to cellular stress
Alberto Rissone, Erin Jimenez, Kevin Bishop, Blake Carrington, Claire Slevin, Stephen M. Wincovitch, Raman Sood, Fabio Candotti, Shawn M. Burgess
Dis Model Mech. 2019 Dec 1; 12(12): dmm040170. Published online 2019 Dec 20. doi: 10.1242/dmm.040170
PMCID:
PMC6955229
AbstractArticle
13.
Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome
Pietro Luigi Poliani, Fabio Facchetti, Maria Ravanini, Andrew Richard Gennery, Anna Villa, Chaim M. Roifman, Luigi D. Notarangelo
Blood. 2009 Jul 2; 114(1): 105–108. Prepublished online 2009 May 4. doi: 10.1182/blood-2009-03-211029
PMCID:
PMC2710940
AbstractArticle
14.
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India
Jahnavi Aluri, Mukesh Desai, Maya Gupta, Aparna Dalvi, Antony Terance, Sergio D. Rosenzweig, Jennifer L. Stoddard, Julie E. Niemela, Vasundhara Tamankar, Snehal Mhatre, Umair Bargir, Manasi Kulkarni, Nitin Shah, Amita Aggarwal, Harsha Prasada Lashkari, Vidya Krishna, Geeta Govindaraj, Manas Kalra, Manisha Madkaikar
Front Immunol. 2019; 10: 23. Published online 2019 Feb 4. doi: 10.3389/fimmu.2019.00023
PMCID:
PMC6369708
AbstractArticlePDF–277K
15.
The Effect of Heterozygous Mutation of Adenylate Kinase 2 Gene on Neutrophil Differentiation
Taigo Horiguchi, Ayako Tanimura, Keiko Miyoshi, Hiroko Hagita, Hisanori Minami, Takafumi Noma
Int J Mol Sci. 2022 Dec; 23(24): 16089. Published online 2022 Dec 17. doi: 10.3390/ijms232416089
PMCID:
PMC9786915
AbstractArticlePDF–3.5M
16.
Adenylate Kinase 2 Links Mitochondrial Energy Metabolism to the Induction of the Unfolded Protein Response
Alison Burkart, Xiarong Shi, My Chouinard, Silvia Corvera
J Biol Chem. 2011 Feb 11; 286(6): 4081–4089. Published online 2010 Sep 27. doi: 10.1074/jbc.M110.134106
PMCID:
PMC3039340
AbstractArticlePDF–1.5M
17.
The DUSP26 phosphatase activator adenylate kinase 2 regulates FADD phosphorylation and cell growth
Hyunjoo Kim, Ho-June Lee, Yumin Oh, Seon-Guk Choi, Se-Hoon Hong, Hyo-Jin Kim, Song-Yi Lee, Ji-Woo Choi, Deog Su Hwang, Key-Sun Kim, Hyo-Joon Kim, Jianke Zhang, Hyun-Jo Youn, Dong-Young Noh, Yong-Keun Jung
Nat Commun. 2014 Feb 19; 5: 3351. Published online 2014 Feb 19. doi: 10.1038/ncomms4351
PMCID:
PMC3948464
AbstractArticlePDF–1.1M
18.
Adenylate Kinase and Metabolic Signaling in Cancer Cells
Aleksandr Klepinin, Song Zhang, Ljudmila Klepinina, Egle Rebane-Klemm, Andre Terzic, Tuuli Kaambre, Petras Dzeja
Front Oncol. 2020; 10: 660. Published online 2020 May 19. doi: 10.3389/fonc.2020.00660
PMCID:
PMC7248387
AbstractArticlePDF–503K
19.
Severe combined immunodeficiency (SCID) associated neutropenia: a lesson from monozygotic twins.
T Niehues, K Schwarz, M Schneider, H Schroten, E Schröder, V Stephan, V Wahn
Arch Dis Child. 1996 Apr; 74(4): 340–342. doi: 10.1136/adc.74.4.340
PMCID:
PMC1511478
SummaryPage BrowsePDF–491K
20.
Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia
Marita Bosticardo, Francesca Pala, Enrica Calzoni, Ottavia M. Delmonte, Kerry Dobbs, Cameron L. Gardner, Nicolo’ Sacchetti, Tomoki Kawai, Elizabeth K. Garabedian, Debbie Draper, Jenna R. E. Bergerson, Suk See DeRavin, Alexandra F. Freeman, Tayfun Güngör, Nicholas Hartog, Steven M. Holland, Donald B. Kohn, Harry L. Malech, Mary Louise Markert, Katja G. Weinacht, Anna Villa, Christopher S. Seet, Amelie Montel-Hagen, Gay M. Crooks, Luigi D. Notarangelo
Blood Adv. 2020 Jun 23; 4(12): 2611–2616. Published online 2020 Jun 17. doi: 10.1182/bloodadvances.2020001730
Correction in:
Blood Adv. 2020 Aug 11; 4(15): 3507.
PMCID:
PMC7322962
AbstractArticlePDF–1.1M

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