Detalhe da pesquisa
1.
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability.
Proc Natl Acad Sci U S A
; 121(9): e2322582121, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38381787
2.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965478
3.
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
J Med Genet
; 61(3): 212-223, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37788905
4.
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Am J Hum Genet
; 103(5): 794-807, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401460
5.
Chediak-Higashi syndrome: a review of the past, present, and future.
Drug Discov Today Dis Models
; 31: 31-36, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33424983
6.
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
Clin Immunol
; 161(2): 355-65, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26499378
7.
Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia.
Pediatr Res
; 78(6): 609-17, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26309238
8.
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.
Hum Mol Genet
; 21(11): 2572-87, 2012 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22378147
9.
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
Front Genet
; 14: 1072784, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36968585
10.
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
NPJ Genom Med
; 8(1): 4, 2023 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36765070
11.
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
Nat Commun
; 9(1): 337, 2018 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29348635
12.
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
Nat Commun
; 8(1): 1257, 2017 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29097652
13.
Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia.
Nucleus
; 7(6): 560-571, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27813696
14.
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
Orphanet J Rare Dis
; 11(1): 62, 2016 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-27179618
15.
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
Orphanet J Rare Dis
; 11(1): 149, 2016 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27816064
16.
The role of nuclear bodies in gene expression and disease.
Biology (Basel)
; 2(3): 976-1033, 2013 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-24040563
17.
Expression profile of NSDHL in human peripheral tissues.
J Mol Histol
; 43(1): 95-106, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22113624
18.
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Orphanet J Rare Dis
; 7: 70, 2012 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22998683