Citations for
1CHS1, LYST
Two novel mutations identified in an african-american child with chediak-higashi syndrome.
Morrone K, Wang Y, Huizing M, Sutton E, White JG, Gahl WA, Moody K.
Case Report Med 2010:967535. Epub 2010 Mar 24. 2010
2CHS1, HPS, HSPA5, LYST
Identification of proteins in the ceroid-like autofluorescent aggregates from liver lysosomes of Beige, a mouse model for human Chediak-Higashi syndrome.
Zhang H, Mahuran DJ, Callahan JW.
Mol Genet Metab 99(4):389-95. Epub 2009 Dec 21. 2010
3LOXL1, LYST
Lyst mutation in mice recapitulates iris defects of human exfoliation syndrome.
Trantow CM, Mao M, Petersen GE, Alward EM, Alward WL, Fingert JH, Anderson MG.
Invest Ophthalmol Vis Sci. 50(3):1205-14 2009
4LYST
Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25.
Runkel F, Büssow H, Seburn KL, Cox GA, Ward DM, Kaplan J, Franz T.
Mamm Genome. 17(3):203-10 2006
5CHS1, LYST
Two novel CHS1 (LYST) mutations: Clinical correlations in an infant with Chediak-Higashi syndrome.
Zarzour W, Kleta R, Frangoul H, Suwannarat P, Jeong A, Kim SY, Wayne AS, Gunay-Aygun M, White J, Filipovich AH, Gahl WA.
Mol Genet Metab 85(2):125-32. Epub 2005 Mar 25. 2005
6CHS1, LYST
Use of expression constructs to dissect the functional domains of the CHS/beige protein: identification of multiple phenotypes.
Ward DM, Shiflett SL, Huynh D, Vaughn MB, Prestwich G, Kaplan J.
Traffic 4(6):403-15. 2003
7LYST, CHS1
The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins.
Tchernev VT, Mansfield TA, Giot L, Kumar AM, Nandabalan K, Li Y, Mishra VS, Detter JC, Rothberg JM, Wallace MR, Southwick FS, Kingsmore SF.
Mol Med 8(1):56-64. 2002
8LYST, CHS1
Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome.
Certain S, Barrat F, Pastural E, Le Deist F, Goyo-Rivas J, Jabado N, Benkerrou M, Seger R, Vilmer E, Beullier G, Schwarz K, Fischer A, de Saint Basile G.
Blood 95(3):979-83. 2000
9CHS1, LYST
Neurobeachin: A protein kinase A-anchoring, beige/Chediak-higashi protein homolog implicated in neuronal membrane traffic.
Wang X, Herberg FW, Laue MM, Wullner C, Hu B, Petrasch-Parwez E, Kilimann MW.
J Neurosci 20(23):8551-65. 2000
10LYST, HPS1, OCA1, OCA2, OCA3, OA1, CHS1
Molecular basis of albinism : mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS, et al.
Hum Mutat 13 : 99-115. 1999
11LYST, CHS1
Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.
Dufourcq-Lagelouse R, et al.
Eur J Hum Genet 7(6):633-7 1999
12LYST, CHS1
Clinical, Molecular, and Cell Biological Aspects of Chediak-Higashi Syndrome.
Introne W, et al.
Mol Genet Metab 68(2):283-303 1999
13LYST, CHS1
Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome.
Faigle W, Raposo G, Tenza D, Pinet V, Vogt AB, Kropshofer H, Fischer A, de Saint-Basile G, Amigorena S.
J Cell Biol 141(5):1121-34 1998
14LYST, CHS1
Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.
Barbosa MD, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SJ, de Saint Basile G, Kingsmore SF.
Hum Mol Genet 6(7):1091-8. 1997
15LYST, CHS1
Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.
Karim MA, Nagle DL, Kandil HH, Burger J, Moore KJ, Spritz RA.
Hum Mol Genet 6(7):1087-9. 1997
16LYST, CHS1
The Beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein.
Perou CM, Leslie JD, Green W, Li L, Ward DM, Kaplan J.
J Biol Chem 272(47):29790-4. 1997
17LYST, CHS1
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.
Barrat FJ, et al.
Am J Hum Genet 59 : 625-632. 1996
18LYST, CHS1
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).
Fukai K, et al.
Am J Hum Genet 59 : 620-624. 1996
19LYST, CHS1
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.
Nagle DL, et al.
Nat Genet 14 : 307-311. 1996
20LYST, CHS1
Identification of the murine beige gene by YAC complementation and positional cloning.
Perou CM, et al.
Nat Genet 13 : 303-308. 1996
21CHS1, LYST
Identification of the homologous beige and Chediak-Higashi syndrome genes.
Barbosa MD, Nguyen QA, Tchernev VT, Ashley JA, Detter JC, Blaydes SM, Brandt SJ, Chotai D, Hodgman C, Solari RC, Lovett M, Kingsmore SF.
Nature 382(6588):262-5. Erratum in: Nature 1997 Jan 2;385(6611):97. 1996