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Items: 1 to 20 of 30

1.
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size
Jenny Serra-Vinardell, Maxwell B. Sandler, Raffaella De Pace, Javier Manzella-Lapeira, Antony Cougnoux, Keyvan Keyvanfar, Wendy J. Introne, Joseph A. Brzostowski, Michael E. Ward, William A. Gahl, Prashant Sharma, May Christine V. Malicdan
Cell Mol Life Sci. 2023 Feb; 80(2): 53. Published online 2023 Jan 28. doi: 10.1007/s00018-023-04695-x
Correction in:
Cell Mol Life Sci. 2023 Mar; 80(3): 81.
PMCID:
PMC11072721
AbstractArticlePDF–13M
2.
Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome
Yinsen Song, Zhengping Dong, Shuying Luo, Junmei Yang, Yuebing Lu, Bo Gao, Tianli Fan
BMC Med Genet. 2020; 21: 4. Published online 2020 Jan 6. doi: 10.1186/s12881-019-0922-8
PMCID:
PMC6943916
AbstractArticlePDF–897K
3.
Chediak-Higashi syndrome: LYST domains regulate exocytosis of lytic granules, but not cytokine secretion by NK cells
Aleksandra Gil-Krzewska, Stephanie M. Wood, Yousuke Murakami, Victoria Nguyen, Samuel Cern Cher Chiang, Andrew R. Cullinane, Peruzzi Giovanna, William A. Gahl, John E. Coligan, Wendy J. Introne, Yenan T. Bryceson, Konrad Krzewski
J Allergy Clin Immunol. Author manuscript; available in PMC 2017 Apr 1.
Published in final edited form as: J Allergy Clin Immunol. 2016 Apr; 137(4): 1165–1177. Published online 2015 Oct 21. doi: 10.1016/j.jaci.2015.08.039
PMCID:
PMC4826811
AbstractArticlePDF–1.6M
4.
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.
F. J. Barrat, L. Auloge, E. Pastural, R. D. Lagelouse, E. Vilmer, A. J. Cant, J. Weissenbach, D. Le Paslier, A. Fischer, G. de Saint Basile
Am J Hum Genet. 1996 Sep; 59(3): 625–632.
PMCID:
PMC1914920
SummaryPage BrowsePDF–1.1M
5.
Lysosomal trafficking regulator restricts intracellular growth of Coxiella burnetii by inhibiting the expansion of Coxiella-containing vacuole and upregulating nos2 expression
Weiqiang Wan, Shan Zhang, Mingliang Zhao, Xuan OuYang, Yonghui Yu, Xiaolu Xiong, Ning Zhao, Jun Jiao
Front Cell Infect Microbiol. 2023; 13: 1336600. Published online 2024 Jan 11. doi: 10.3389/fcimb.2023.1336600
PMCID:
PMC10812120
AbstractArticlePDF–7.1M
6.
The driver landscape of sporadic chordoma
Patrick S. Tarpey, Sam Behjati, Matthew D. Young, Inigo Martincorena, Ludmil B. Alexandrov, Sarah J. Farndon, Charlotte Guzzo, Claire Hardy, Calli Latimer, Adam P. Butler, Jon W. Teague, Adam Shlien, P. Andrew Futreal, Sohrab Shah, Ali Bashashati, Farzad Jamshidi, Torsten O. Nielsen, David Huntsman, Daniel Baumhoer, Sebastian Brandner, Jay Wunder, Brendan Dickson, Patricia Cogswell, Josh Sommer, Joanna J. Phillips, M. Fernanda Amary, Roberto Tirabosco, Nischalan Pillay, Stephen Yip, Michael R. Stratton, Adrienne M. Flanagan, Peter J. Campbell
Nat Commun. 2017; 8: 890. Published online 2017 Oct 12. doi: 10.1038/s41467-017-01026-0
PMCID:
PMC5638846
AbstractArticlePDF–938K
7.
Chediak-Higashi gene in humans. I. Impairment of natural - killer function
T Haliotis, J Roder, M Klein, J Ortaldo, AS Fauci, RB Herberman
J Exp Med. 1980 May 1; 151(5): 1039–1048. doi: 10.1084/jem.151.5.1039
PMCID:
PMC2185857
SummaryPDF–604K
8.
Deficient Peptide Loading and MHC Class II Endosomal Sorting in a Human Genetic Immunodeficiency Disease: the Chediak-Higashi Syndrome
Wolfgang Faigle, Graça Raposo, Daniele Tenza, Valérie Pinet, Anne B. Vogt, Harald Kropshofer, Alain Fischer, Geneviève de Saint-Basile, Sebastian Amigorena
J Cell Biol. 1998 Jun 1; 141(5): 1121–1134. doi: 10.1083/jcb.141.5.1121
PMCID:
PMC2137185
AbstractArticlePDF–1004K
9.
Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).
K. Fukai, J. Oh, M. A. Karim, K. J. Moore, H. H. Kandil, H. Ito, J. Bürger, R. A. Spritz
Am J Hum Genet. 1996 Sep; 59(3): 620–624.
PMCID:
PMC1914913
SummaryPage BrowsePDF–778K
10.
DNA methylation signatures and coagulation factors in the peripheral blood leucocytes of epithelial ovarian cancer
Lian Li, Hong Zheng, Yubei Huang, Caiyun Huang, Shuang Zhang, Jing Tian, Pei Li, Anil K Sood, Wei Zhang, Kexin Chen
Carcinogenesis. 2017 Aug; 38(8): 797–805. Published online 2017 Jun 16. doi: 10.1093/carcin/bgx057
PMCID:
PMC7083145
AbstractArticlePDF–13M
11.
Identification of the homologous beige and Chediak–Higashi syndrome genes
Maria D. F. S. Barbosa, Quan A. Nguyen, Velizar T. Tchernev, Jennifer A. Ashley, John C. Detter, Susan M. Blaydes, Stephen J. Brandt, Dipti Chotai, Charles Hodgman, Roberto C. E. Solari, Michael Lovett, Stephen F. Kingsmore
Nature. Author manuscript; available in PMC 2010 Jun 29.
Published in final edited form as: Nature. 1996 Jul 18; 382(6588): 262–265. doi: 10.1038/382262a0
Correction in:
volume 385 on page 97
PMCID:
PMC2893578
AbstractArticlePDF–1.4M
12.
Identification of mutations in two major mRNA isoforms of the Chediak–Higashi syndrome gene in human and mouse
Maria D. F. S. Barbosa, Franck J. Barrat, Velizar T. Tchernev, Quan A. Nguyen, Vishnu S. Mishra, Steven D. Colman, Elodie Pastural, Rémi Dufourcq-Lagelouse, Alain Fischer, Randall F. Holcombe, Margaret R. Wallace, Stephen J. Brandt, Geneviève de Saint Basile, Stephen F. Kingsmore
Hum Mol Genet. Author manuscript; available in PMC 2010 May 14.
Published in final edited form as: Hum Mol Genet. 1997 Jul; 6(7): 1091–1098. doi: 10.1093/hmg/6.7.1091
PMCID:
PMC2871070
AbstractArticlePDF–1.2M
13.
Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci
Fan Liu, Andreas Wollstein, Pirro G. Hysi, Georgina A. Ankra-Badu, Timothy D. Spector, Daniel Park, Gu Zhu, Mats Larsson, David L. Duffy, Grant W. Montgomery, David A. Mackey, Susan Walsh, Oscar Lao, Albert Hofman, Fernando Rivadeneira, Johannes R. Vingerling, André G. Uitterlinden, Nicholas G. Martin, Christopher J. Hammond, Manfred Kayser
PLoS Genet. 2010 May; 6(5): e1000934. Published online 2010 May 6. doi: 10.1371/journal.pgen.1000934
PMCID:
PMC2865509
AbstractArticlePDF–2.0M
14.
Neurobeachin: A Protein Kinase A-Anchoring,beige/Chediak-Higashi Protein Homolog Implicated in Neuronal Membrane Traffic
Xiaolu Wang, Friedrich W. Herberg, Michael M. Laue, Christiane Wüllner, Bin Hu, Elisabeth Petrasch-Parwez, Manfred W. Kilimann
J Neurosci. 2000 Dec 1; 20(23): 8551–8565. doi: 10.1523/JNEUROSCI.20-23-08551.2000
PMCID:
PMC6773050
AbstractArticlePDF–1.5M
15.
Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease
Heike Bömmel, Gang Xie, Wilfried Rossoll, Stefan Wiese, Sibylle Jablonka, Thomas Boehm, Michael Sendtner
J Cell Biol. 2002 Nov 25; 159(4): 563–569. doi: 10.1083/jcb.200208001
PMCID:
PMC2173089
AbstractArticlePDF–622K
16.
SUMO targets the APC/C to regulate transition from metaphase to anaphase
Karolin Eifler, Sabine A. G. Cuijpers, Edwin Willemstein, Jonne A. Raaijmakers, Dris El Atmioui, Huib Ovaa, René H. Medema, Alfred C. O. Vertegaal
Nat Commun. 2018; 9: 1119. Published online 2018 Mar 16. doi: 10.1038/s41467-018-03486-4
PMCID:
PMC5856775
AbstractArticlePDF–1.8M
17.
The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins.
Velizar T. Tchernev, Traci A. Mansfield, Loic Giot, A. Madan Kumar, Krishnan Nandabalan, Ying Li, Vishnu S. Mishra, John C. Detter, Jonathan M. Rothberg, Margaret R. Wallace, Frederick S. Southwick, Stephen F. Kingsmore
Mol Med. 2002 Jan; 8(1): 56–64.
PMCID:
PMC2039936
SummaryPDF–125K
18.
An unappreciated role for RNA surveillance
R Tyler Hillman, Richard E Green, Steven E Brenner
Genome Biol. 2004; 5(2): R8. Published online 2004 Feb 2. doi: 10.1186/gb-2004-5-2-r8
PMCID:
PMC395752
AbstractArticlePDF–378K
19.
C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy
Bing-Ru Yan, Taoyingnan Li, Etienne Coyaud, Estelle M. N. Laurent, Jonathan St-Germain, Yuhuan Zhou, Peter K. Kim, Brian Raught, John H. Brumell
Autophagy. 2022; 18(4): 829–840. Published online 2021 Aug 25. doi: 10.1080/15548627.2021.1960116
PMCID:
PMC9037554
AbstractArticlePDF–4.1M
20.
Shotgun sequencing of the human transcriptome with ORF expressed sequence tags
Emmanuel Dias Neto, Ricardo Garcia Correa, Sergio Verjovski-Almeida, Marcelo R. S. Briones, Maria Aparecida Nagai, Wilson da Silva, Jr., Marco Antonio Zago, Silvana Bordin, Fernando Ferreira Costa, Gustavo Henrique Goldman, Alex F. Carvalho, Adriana Matsukuma, Gilson S. Baia, David H. Simpson, Adriana Brunstein, Paulo S. L. de Oliveira, Philipp Bucher, C. Victor Jongeneel, Michael J. O'Hare, Fernando Soares, Ricardo R. Brentani, Luis F. L. Reis, Sandro J. de Souza, Andrew J. G. Simpson
Proc Natl Acad Sci U S A. 2000 Mar 28; 97(7): 3491–3496. doi: 10.1073/pnas.97.7.3491
PMCID:
PMC16267
AbstractArticlePDF–111K

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