Associated Papers
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM4_ESM.xlsx › supp_data_1
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 contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM4_ESM.xlsx › Supplementary-Table_1
Whole-exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations.
Sadler B et al.
Blood Advances, 2022
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
Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
Shimazaki H et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
A concanavalin A-like lectin domain in the CHS1/LYST protein, shared by members of the BEACH family.
Burgess A et al.
Bioinformatics (oxford, England), 2009
A missense mutation in the WD40 domain of murine Lyst is linked to severe progressive Purkinje cell degeneration.
Rudelius M et al.
Acta Neuropathologica, 2006
Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.
Zarzour W et al.
Molecular Genetics and Metabolism, 2005
Hereditary Spastic Paraplegia due to LYST Gene Mutation: A Novel Causative Gene.
Mahale RR et al.
Annals of Indian Academy of Neurology, 0
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