PMC Links for OMIM (Select 606897) - PMC

Select item 45236841.

A Conserved Circular Network of Coregulated Lipids Modulates Innate Immune Responses

Marielle S. Köberlin, Berend Snijder, Leonhard X. Heinz, Christoph L. Baumann, Astrid Fauster, Gregory I. Vladimer, Anne-Claude Gavin, Giulio Superti-Furga

Cell. 2015 Jul 2; 162(1): 170–183. doi: 10.1016/j.cell.2015.05.051

PMCID:: PMC4523684

Abstract Article

Select item 28935782.

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

Abstract Article PDF–1.4M

Select item 28710703.

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

Abstract Article PDF–1.2M

Select item 21371854.

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

Abstract Article PDF–1004K

Select item 19149205.

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

Summary Page Browse PDF–1.1M

Select item 19149136.

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

Summary Page Browse PDF–778K

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