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Select item 100497771.

Successful use of emapalumab in refractory hemophagocytic lymphohistiocytosis in a child with Chédiak–Higashi syndrome: a case report

Ali AlAhmari, Haitham Khogeer

J Med Case Rep. 2023; 17: 113. Published online 2023 Mar 29. doi: 10.1186/s13256-023-03808-1

PMCID:: PMC10049777

Article PDF–987K

Select item 92224882.

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review

Muhammad Ikram Ullah

Genes (Basel) 2022 Jun; 13(6): 1072. Published online 2022 Jun 16. doi: 10.3390/genes13061072

PMCID:: PMC9222488

Article PDF–1.0M

Select item 90375553.

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy

Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth

Autophagy. 2022; 18(3): 496–517. Published online 2021 Aug 19. doi: 10.1080/15548627.2021.1943177

PMCID:: PMC9037555

Article PDF–2.0M

Select item 83441914.

Molecular Defects that Affect Platelet Dense Granules

Meral Gunay-Aygun, Marjan Huizing, William A. Gahl

Semin Thromb Hemost. Author manuscript; available in PMC 2021 Aug 6.

Published in final edited form as: Semin Thromb Hemost. 2004 Oct; 30(5): 537–547. doi: 10.1055/s-2004-835674

PMCID:: PMC8344191

Article PDF–1.3M

Select item 80656015.

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism

Hwei Wuen Chan, Elena R. Schiff, Vijay K. Tailor, Samantha Malka, Magella M. Neveu, Maria Theodorou, Mariya Moosajee

Genes (Basel) 2021 Apr; 12(4): 508. Published online 2021 Mar 30. doi: 10.3390/genes12040508

PMCID:: PMC8065601

Article PDF–2.0M

Select item 80444666.

Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome

Mireia Boluda-Navarro, Mariam Ibáñez, Alessandro Liquori, Clara Franco-Jarava, Mónica Martínez-Gallo, Héctor Rodríguez-Vega, Jaijo Teresa, Carmen Carreras, Esperanza Such, Ángel Zúñiga, Roger Colobran, José Vicente Cervera

Front Immunol. 2021; 12: 625591. Published online 2021 Mar 31. doi: 10.3389/fimmu.2021.625591

PMCID:: PMC8044466

Article PDF–1.0M

Select item 80246767.

Mauve/LYST limits fusion of lysosome-related organelles and promotes centrosomal recruitment of microtubule nucleating proteins

Ramona Lattao, Hélène Rangone, Salud Llamazares, David M. Glover

Dev Cell. 2021 Apr 5; 56(7): 1000–1013.e6. doi: 10.1016/j.devcel.2021.02.019

PMCID:: PMC8024676

Article

Select item 74881188.

TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity

M. Dasouki, A. Jabr, G. AlDakheel, F. Elbadaoui, A. M. Alazami, B. Al‐Saud, R. Arnaout, H. Aldhekri, I. Alotaibi, H. Al‐Mousa, A. Hawwari

Clin Exp Immunol. 2020 Oct; 202(1): 60–71. Published online 2020 Jul 21. doi: 10.1111/cei.13484

PMCID:: PMC7488118

Article PDF–306K

Select item 69524179.

Assisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST

R. M. Buckley, R. A. Grahn, B. Gandolfi, J. R. Herrick, M. D. Kittleson, H. L. Bateman, J. Newsom, W. F. Swanson, D. J. Prieur, L. A. Lyons

Sci Rep. 2020; 10: 64. Published online 2020 Jan 9. doi: 10.1038/s41598-019-56896-9

PMCID:: PMC6952417

Article PDF–1.3M

Select item 694391610.

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

Article PDF–897K

Select item 677305011.

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

Article PDF–1.5M

Select item 670482512.

Drosophila rugose Is a Functional Homolog of Mammalian Neurobeachin and Affects Synaptic Architecture, Brain Morphology, and Associative Learning

Karolien Volders, Sabrina Scholz, Jan R. Slabbaert, Anja C. Nagel, Patrik Verstreken, John W. M. Creemers, Patrick Callaerts, Martin Schwärzel

J Neurosci. 2012 Oct 24; 32(43): 15193–15204. doi: 10.1523/JNEUROSCI.6424-11.2012

PMCID:: PMC6704825

Article PDF–1.7M

Select item 599560713.

An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome

Aleksandra Gil-Krzewska, Mezida B. Saeed, Anna Oszmiana, Elizabeth R. Fischer, Kathryn Lagrue, William A. Gahl, Wendy J. Introne, John E. Coligan, Daniel M. Davis, Konrad Krzewski

J Allergy Clin Immunol. 2018 Sep; 142(3): 914–927.e6. doi: 10.1016/j.jaci.2017.10.040

PMCID:: PMC5995607

Article PDF–7.1M

Select item 542374514.

A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase

X.L. Wu, X.Q. Zhao, B.X. Zhang, F. Xuan, H.M. Guo, F.T. Ma

Braz J Med Biol Res. 2017; 50(4): e5727. Published online 2017 Mar 23. doi: 10.1590/1414-431X20165727

PMCID:: PMC5423745

Article PDF–1014K

Select item 530726915.

Chédiak-Higashi syndrome with novel gene mutation

Mostafa M Helmi, Maysa Saleh, Bushra Yacop, Doaa ElSawy

BMJ Case Rep. 2017; 2017: bcr2016216628. Published online 2017 Feb 9. doi: 10.1136/bcr-2016-216628

PMCID:: PMC5307269

Article PDF–3.9M

Select item 528651416.

Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome

Yaqiong Jin, Li Zhang, Senfen Wang, Feng Chen, Yang Gu, Enyu Hong, Yongbo Yu, Xin Ni, Yongli Guo, Tieliu Shi, Zigang Xu

Sci Rep. 2017; 7: 41308. Published online 2017 Feb 1. doi: 10.1038/srep41308

PMCID:: PMC5286514

Article PDF–878K

Select item 482681117.

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

Article PDF–1.6M

Select item 429668418.

Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response

Le Wang, Kamila Rosamilia Kantovitz, Andrew Robert Cullinane, Francisco Humberto Nociti, Jr., Brian Lee Foster, Joseph Concepcion Roney, Anne Bich Tran, Wendy Jewell Introne, Martha Joan Somerman

Orphanet J Rare Dis. 2014; 9: 212. Published online 2014 Dec 21. doi: 10.1186/s13023-014-0212-7