Associated Papers
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
Morimoto M et al.
Journal of Medical Genetics, 2024
The lysosomal trafficking regulator "LYST": an 80-year traffic jam.
Turner ME et al.
Frontiers in Immunology, 2024
38774881 (PubMed )
Supplement: DataSheet_1.pdf
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Generation and characterization of a human iPSC line SANi008-A from a Chédiak-Higashi Syndrome patient.
Aarts CEM et al.
Stem Cell Research, 2021
Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.
Song Y et al.
Bmc Medical Genetics, 2020
31906877 (PubMed )
Supplement: 12881_2019_922_MOESM5_ESM.xlsx › Sheet2
Chédiak-Higashi syndrome with novel gene mutation.
Helmi MM et al.
Bmj Case Reports, 2017
Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.
Jin Y et al.
Scientific Reports, 2017
The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.
Cullinane AR et al.
Traffic (copenhagen, Denmark), 2013
Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS).
Scherber E et al.
Clinical Genetics, 2009
Chemical individuality: concept and outlook.
Gahl WA
Journal of Inherited Metabolic Disease, 2008
Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.
Westbroek W et al.
The Journal of Investigative Dermatology, 2007
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