Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 1
2002 1
2005 1
2013 1
2014 2
2017 1
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

8 results

Results by year

Filters applied: . Clear all
Page 1
Showing results for chediak array
Your search for Chedia Jarray retrieved no results
Lysosomal membrane proteomics and biogenesis of lysosomes.
Bagshaw RD, Mahuran DJ, Callahan JW. Bagshaw RD, et al. Mol Neurobiol. 2005 Aug;32(1):27-41. doi: 10.1385/MN:32:1:027. Mol Neurobiol. 2005. PMID: 16077181 Review.
This review focuses on events involved in the biogenesis of the lysosome. This organelle contains a diverse array of soluble, luminal proteins capable of digesting all the macromolecules in the cell. ...By applying these methods to mouse models of lysosome dysgenesis (such …
This review focuses on events involved in the biogenesis of the lysosome. This organelle contains a diverse array of soluble, luminal …
Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response.
Wang L, Kantovitz KR, Cullinane AR, Nociti FH Jr, Foster BL, Roney JC, Tran AB, Introne WJ, Somerman MJ. Wang L, et al. Orphanet J Rare Dis. 2014 Dec 21;9:212. doi: 10.1186/s13023-014-0212-7. Orphanet J Rare Dis. 2014. PMID: 25528552 Free PMC article.
BACKGROUND: Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by immunodeficiency, oculocutaneous albinism, neurological dysfunction, and early death. ...METHODS AND RESULTS: Primary skin fibroblasts from CHS subjects or healthy controls we …
BACKGROUND: Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by immunodeficiency, oculocutaneous al …
Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chediak-Higashi Syndrome.
Boluda-Navarro M, Ibáñez M, Liquori A, Franco-Jarava C, Martínez-Gallo M, Rodríguez-Vega H, Teresa J, Carreras C, Such E, Zúñiga Á, Colobran R, Cervera JV. Boluda-Navarro M, et al. Front Immunol. 2021 Mar 31;12:625591. doi: 10.3389/fimmu.2021.625591. eCollection 2021. Front Immunol. 2021. PMID: 33868243 Free PMC article.
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. ...In this study, we show that the combination of different strategies, including the use of SNP- …
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonse …
Role of membranes in disease.
Goldberg DM, Riordan JR. Goldberg DM, et al. Clin Physiol Biochem. 1986;4(5):305-36. Clin Physiol Biochem. 1986. PMID: 3022980 Review.
The membranes of mammalian cells are composed of an ordered array of lipids and proteins, the latter containing carbohydrate residues directed towards the exterior and important in the interaction of cells with each other and with external proteins. ...This includes: recep …
The membranes of mammalian cells are composed of an ordered array of lipids and proteins, the latter containing carbohydrate residues …
Atypical Chediak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.
Weisfeld-Adams JD, Mehta L, Rucker JC, Dembitzer FR, Szporn A, Lublin FD, Introne WJ, Bhambhani V, Chicka MC, Cho C. Weisfeld-Adams JD, et al. Orphanet J Rare Dis. 2013 Mar 22;8:46. doi: 10.1186/1750-1172-8-46. Orphanet J Rare Dis. 2013. PMID: 23521865 Free PMC article.
BACKGROUND: Mutations in LYST, a gene encoding a putative lysosomal trafficking protein, cause Chediak-Higashi syndrome (CHS), an autosomal recessive disorder typically characterized by infantile-onset hemophagocytic syndrome and immunodeficiency, and oculocutaneous albini …
BACKGROUND: Mutations in LYST, a gene encoding a putative lysosomal trafficking protein, cause Chediak-Higashi syndrome (CHS), an aut …
A genome-wide association study reveals a locus for bilateral iridal hypopigmentation in Holstein Friesian cattle.
Hollmann AK, Bleyer M, Tipold A, Neßler JN, Wemheuer WE, Schütz E, Brenig B. Hollmann AK, et al. BMC Genet. 2017 Mar 29;18(1):30. doi: 10.1186/s12863-017-0496-4. BMC Genet. 2017. PMID: 28356055 Free PMC article.
BACKGROUND: Eye pigmentation abnormalities in cattle are often related to albinism, Chediak-Higashi or Tietz like syndrome. However, mutations only affecting pigmentation of coat color and eye have also been described. ...CONCLUSIONS: The clinical appearance of the iridal …
BACKGROUND: Eye pigmentation abnormalities in cattle are often related to albinism, Chediak-Higashi or Tietz like syndrome. However, …
BEACH family of proteins: phylogenetic and functional analysis of six Dictyostelium BEACH proteins.
Wang N, Wu WI, De Lozanne A. Wang N, et al. J Cell Biochem. 2002;86(3):561-70. doi: 10.1002/jcb.10254. J Cell Biochem. 2002. PMID: 12210762
The beige and Chediak-Higashi syndrome (BEACH)-domain containing proteins constitute a new family of proteins found in all eukaryotes. The function of these proteins, which include the Chediak-Higashi syndrome (CHS) protein, Neurobeachin, LvsA, and FAN, is still poo …
The beige and Chediak-Higashi syndrome (BEACH)-domain containing proteins constitute a new family of proteins found in all eukaryotes …
Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
Shimazaki H, Honda J, Naoi T, Namekawa M, Nakano I, Yazaki M, Nakamura K, Yoshida K, Ikeda S, Ishiura H, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Takiyama Y. Shimazaki H, et al. J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):1024-8. doi: 10.1136/jnnp-2013-306981. Epub 2014 Feb 12. J Neurol Neurosurg Psychiatry. 2014. PMID: 24521565
We undertook genome-wide linkage analysis employing single nucleotide polymorphism arrays using the two patients' DNAs and exome sequencing using one patient's sample. RESULTS: We detected a homozygous missense mutation (c.4189T>G, p.F1397V) in the lysosomal trafficking …
We undertook genome-wide linkage analysis employing single nucleotide polymorphism arrays using the two patients' DNAs and exome sequ …