Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome
about
Towards the targeted management of Chediak-Higashi syndromeCrystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domainMutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndromeA thiol proteinase inhibitor, E-64-d, corrects the abnormalities in concanavalin A cap formation and the lysosomal enzyme activity in leucocytes from patients with Chediak-Higashi syndrome by reversing the down-regulated protein kinase C activityInherited platelet disorders: thrombocytopenias and thrombocytopathies.Current Strategies in Diagnosis of Inherited Storage Pool DefectsDifferences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome PatientsPotential large animal models for gene therapy of human genetic diseases of immune and blood cell systemsThe BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and miceLysosomal trafficking regulator Lyst links membrane trafficking to toll-like receptor-mediated inflammatory responses.Pediatric hemophagocytic syndromes: a diagnostic and therapeutic challengeChediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.
P2860
Q26829320-91532C9B-F91C-4055-AE56-40FDC2B3C87EQ27639656-2894756F-777E-4D7B-B596-81C1C108174BQ28243405-8935D871-7108-482B-B4F6-89F18D0637AEQ28347638-24968A1B-A6C7-425C-9840-24ADD883AEA6Q33387543-16A0E5BB-AB64-4DDE-BA8E-7BE18F2A3E1AQ33393005-5A618F0F-6A9C-41B8-B660-644602F0ED60Q33571640-7AE6B552-C11B-49B5-9B6B-E9E0C255B95EQ33589392-99083991-9410-4FF8-9C89-BF5D74B3B10FQ34334783-DB2437E4-A543-45E0-854E-46F53FC06424Q36385688-42FF09C1-FDBE-4D70-9F77-3061A52578E3Q37394923-C74EA3E4-9995-4A2D-962E-D6235B4CEE2CQ37549695-C729DC03-9CD3-4E54-866D-EDC6E8A377B8Q37763298-23BB0BB4-1DF3-4101-A7DE-683A86866AC0Q51907625-691397DD-3579-4554-900E-EAEF3B0F0FDE
P2860
Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome
description
2000 nî lūn-bûn
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2000 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Protein truncation test of LYS ...... with Chediak-Higashi syndrome
@ast
Protein truncation test of LYS ...... with Chediak-Higashi syndrome
@en
Protein truncation test of LYS ...... with Chediak-Higashi syndrome
@en-gb
Protein truncation test of LYS ...... with Chediak-Higashi syndrome
@nl
type
label
Protein truncation test of LYS ...... with Chediak-Higashi syndrome
@ast
Protein truncation test of LYS ...... with Chediak-Higashi syndrome
@en
Protein truncation test of LYS ...... with Chediak-Higashi syndrome
@en-gb
Protein truncation test of LYS ...... with Chediak-Higashi syndrome
@nl
prefLabel
Protein truncation test of LYS ...... with Chediak-Higashi syndrome
@ast
Protein truncation test of LYS ...... with Chediak-Higashi syndrome
@en
Protein truncation test of LYS ...... with Chediak-Higashi syndrome
@en-gb
Protein truncation test of LYS ...... with Chediak-Higashi syndrome
@nl
P2093
P1433
P1476
Protein truncation test of LYS ...... with Chediak-Higashi syndrome
@en
P2093
E Pastural
F Le Deist
G Beullier
G de Saint Basile
J Goyo-Rivas
M Benkerrou
P304
P407
P577
2000-02-01T00:00:00Z