|
Chediak-Higashi Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Chédiak-Higashi syndrome (CHS) is a lethal disorder caused by mutations in the LYST gene that involves progressive neurologic dysfunction.
|
31043676 |
2019 |
|
Chediak-Higashi Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Beige mice carry a mutation in the lysosome trafficking regulator (LYST) gene and display some of the key characteristics of human Chèdiak-Higashi syndrome, in particular, a high susceptibility to infection due to aberrant natural killer (NK) cell and polymorphonuclear leucocyte function.
|
30738290 |
2019 |
|
Chediak-Higashi Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Chediak-Higashi syndrome (CHS) is a rare disorder caused by biallelic mutations in the lysosomal trafficking regulator gene (LYST), resulting in formation of giant lysosomes or lysosome-related organelles in several cell types.
|
29241728 |
2018 |
|
Chediak-Higashi Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As mutations in LYST cause human Chédiak-Higashi syndrome, a severe immunodeficiency, our findings also contribute to a better understanding of human disease mechanisms.
|
27881733 |
2017 |
|
Chediak-Higashi Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive disorder (gene CHS1/LYST) characterized by partial albinism, recurrent infections, and easy bruising.
|
27669550 |
2017 |
|
Chediak-Higashi Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.
|
28145517 |
2017 |
|
Chediak-Higashi Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive disorder (gene CHS1/LYST) characterized by partial albinism, recurrent infections, and easy bruising.
|
27669550 |
2017 |
|
Chediak-Higashi Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive disorder (gene CHS1/LYST) characterized by partial albinism, recurrent infections, and easy bruising.
|
27669550 |
2017 |
|
Chediak-Higashi Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
WGS revealed two compound LYST mutations including a maternally inherited chr1:235969126G > A (rs80338652) and a novel paternally inherited chr1: 235915327A > AT, associated with autosomal recessive CHS.
|
28145517 |
2017 |
|
Chediak-Higashi Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Neurologic involvement in patients with atypical Chediak-Higashi disease.
|
28193763 |
2017 |
|
Chediak-Higashi Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.
|
28458669 |
2017 |
|
Chediak-Higashi Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We sought to delineate cellular defects associated with LYST mutations responsible for the impaired NK cell function seen in patients with CHS.
|
26478006 |
2016 |
|
Chediak-Higashi Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In order to get further insight into the role of LYST in the biogenesis and exocytosis of cytotoxic granules, we analyzed cytotoxic T lymphocytes (CTLs) from patients with CHS.
|
25425525 |
2015 |
|
Chediak-Higashi Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in the large BEACH domain-containing protein LYST causes Chediak-Higashi syndrome.
|
25216107 |
2014 |
|
Chediak-Higashi Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We detected a homozygous missense mutation (c.4189T>G, p.F1397V) in the lysosomal trafficking regulator (LYST) gene, which is described as the causative gene for Chédiak-Higashi syndrome (CHS).
|
24521565 |
2014 |
|
Chediak-Higashi Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
[Hereditary spastic paraplegia: up to date].
|
25519960 |
2014 |
|
Chediak-Higashi Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We also identified the mutation of the LYST gene, that is causative gene for Chediak-Higashi syndrome, for the autosomal recessive complicated spastic paraplegia with cerebellar ataxia and neuropathy.
|
25519961 |
2014 |
|
Chediak-Higashi Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patient 1 is the first report of a severe early-onset CHS with a homozygous missense mutation (c.11362 G>A, p.G3725R) in the LYST/CHS1 gene.
|
24112114 |
2014 |
|
Chediak-Higashi Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
|
24521565 |
2014 |
|
Chediak-Higashi Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We also identified the mutation of the LYST gene, that is causative gene for Chediak-Higashi syndrome, for the autosomal recessive complicated spastic paraplegia with cerebellar ataxia and neuropathy.
|
25519961 |
2014 |
|
Chediak-Higashi Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Defects in human lysosomal-trafficking regulator (Lyst) are associated with the lysosomal disorder Chediak-Higashi syndrome.
|
25086066 |
2014 |
|
Chediak-Higashi Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.
|
23521865 |
2013 |
|
Chediak-Higashi Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism.
|
23436631 |
2013 |
|
Chediak-Higashi Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In LYST-mutant patients with Chediak-Higashi syndrome, CTL cytotoxicity was reduced in patients with early-onset HLH, whereas it was retained in patients who later or never developed HLH.
|
21878672 |
2011 |
|
Chediak-Higashi Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe two siblings with CHS due to a novel homozygous R1836X mutation in the LYST gene associated with loss of NK cell degranulation and cytotoxicity.
|
21488161 |
2011 |