The DOI matches its Crossref record; 64 of the 64 references it cites were found in a registry or an index.
Chediak-Higashi syndrome
Abstract
PURPOSE OF REVIEW: Chediak-Higashi syndrome, a rare autosomal recessive disorder, was described over 50 years ago. Patients show hypopigmentation, recurrent infections, mild coagulation defects and varying neurologic problems. Treatment is bone marrow transplant, which is effective in treating the hematologic and immune defects, however the neurologic problems persist. The CHS1/LYST gene was identified over 10 years ago and homologous CHS1/LYST genes are present in all eukaryotes. This review will discuss the advances made in understanding the clinical aspects of the syndrome and the function of CHS1/LYST/Beige. RECENT FINDINGS: Clinical reports of Chediak-Higashi syndrome have identified mutations throughout the CHS1/LYST gene. The nature of the mutation can be a predictor of the severity of the disease. Over the past decade the CHS1/LYST family of proteins has been analyzed using model organisms, two-hybrid analysis, overexpression phenotypes and dominant negatives. These studies suggest that the CHS1/LYST protein is involved in either vesicle fusion or fission. SUMMARY: Although CHS is a rare disease, the Chediak-like family of proteins is providing insight into the regulation of vesicle trafficking. Understanding the basic mechanisms that govern vesicle trafficking will provide essential information regarding how loss of CHS1/LYST affects hematologic, immunologic and neurologic processes.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The ancient regulatory-protein family of WD-repeat proteins
Neer, E. J., Schmidt, C. J., Nambudripad, R., & Smith, T. F. (1994) · Nature · doi:10.1038/371297a0 · Cited by 1,498
One‐thousand‐and‐one substrates of protein kinase CK2?
Meggio, F., & Pinna, L. A. (2003) · The FASEB Journal · doi:10.1096/fj.02-0473rev · Cited by 1,310
Plasma Membrane Repair Is Mediated by Ca2+-Regulated Exocytosis of Lysosomes
Reddy, A., Caler, E. V., & Andrews, N. W. (2001) · Cell · doi:10.1016/s0092-8674(01)00421-4 · Cited by 1,042
A repeating amino acid motif shared by proteins with diverse cellular roles
Peifer, M., Berg, S., & Reynolds, A. B. (1994) · Cell · doi:10.1016/0092-8674(94)90353-0 · Cited by 648
HEAT repeats in the Huntington's disease protein
Andrade, M. A., & Bork, P. (1995) · Nature Genetics · doi:10.1038/ng1095-115 · Cited by 597
Identification of the homologous beige and Chediak–Higashi syndrome genes
Barbosa, M. D. F. S., Nguyen, Q. A., Tchernev, V. T., Ashley, J. A., Detter, J. C., Blaydes, S. M., Brandt, S. J., Chotai, D., Hodgman, C., Solari, R. C. E., et al. (1996) · Nature · doi:10.1038/382262a0 · Cited by 552
Identification and mutation analysis of the complete gene for Chediak–Higashi syndrome
Nagle, D. L., Karim, M. A., Woolf, E. A., Holmgren, L., Bork, P., Misumi, D. J., McGrail, S. H., Dussault, B. J., Perou, C. M., Boissy, R. E., et al. (1996) · Nature Genetics · doi:10.1038/ng1196-307 · Cited by 539
Comparison of ARM and HEAT protein repeats
Andrade, M. A., Petosa, C., O’Donoghue, S. I., Müller, C. W., & Bork, P. (2001) · Journal of Molecular Biology · doi:10.1006/jmbi.2001.4624 · Cited by 512
Protein sorting into multivesicular endosomes
Raiborg, C., Rusten, T. E., & Stenmark, H. (2003) · Current Opinion in Cell Biology · doi:10.1016/s0955-0674(03)00080-2 · Cited by 500
The Chediak-Higashi syndrome: studies in four patients and a review of the literature.
BLUME, R. S., & Wolff, S. M. (1972) · PubMed · Cited by 397
Cited by
The multifaceted functions of neutrophils
Mayadas, T. N., Cullere, X., & Lowell, C. A. (2014) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-020712-164023 · Cited by 1,356
Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci
Liu, F., Wollstein, A., Hysi, P. G., Ankra-Badu, G. A., Spector, T. D., Park, D., Zhu, G., Larsson, M., Duffy, D. L., Montgomery, G. W., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000934 · Cited by 191
Chen, L., Hu, J., Yun, Y., & Wang, T. (2010) · Molecular Membrane Biology · doi:10.3109/09687680903417470 · Cited by 51
Elevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypes
Trantow, C. M., Hedberg-Buenz, A., Iwashita, S., Moore, S. A., & Anderson, M. G. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001008 · Cited by 32
Metadata
- Authors
- Kaplan, J., De Domenico, I., & Ward, D. M.
- Venue
- Current Opinion in Hematology
- Published
- 2008-01
- Volume
- 15
- Issue
- 1
- Pages
- 22-29
- ISSN
- 1065-6251 (ISSN-L)
- OpenAlex
- W2164046385
- Cited by
- 359
- References
- 64
- FWCI
- 9.08
- Type
- journal article
- Language
- en
- Open access
- closed
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Chediak-Higashi syndrome. https://app.cochat.ai/papers/10.1097/moh.0b013e3282f2bcce
- The paper
- Kaplan, J., De Domenico, I., & Ward, D. M. (2008). Chediak-Higashi syndrome. Current Opinion in Hematology. https://doi.org/10.1097/moh.0b013e3282f2bcce
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
