Detalhe da pesquisa
1.
Differential metabolic secretion between mdx mouse-derived spindle cell sarcomas and rhabdomyosarcomas drives tumor type development.
Am J Physiol Cell Physiol
; 2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38646787
2.
Longitudinal data of serum creatine kinase levels and motor, pulmonary, and cardiac functions in 337 patients with Duchenne muscular dystrophy.
Muscle Nerve
; 69(5): 604-612, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38511270
3.
All reported non-canonical splice site variants in GLA cause aberrant splicing.
Clin Exp Nephrol
; 27(9): 737-746, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37254000
4.
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.
J Hum Genet
; 67(7): 427-440, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35140360
5.
Detecting pathogenic deep intronic variants in Gitelman syndrome.
Am J Med Genet A
; 188(9): 2576-2583, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35785516
6.
Assessment of catabolic state in infants with the use of urinary titin N-fragment.
Pediatr Res
; 91(7): 1748-1753, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34274960
7.
Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.
Clin Exp Nephrol
; 26(2): 140-153, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34536170
8.
An Antisense Oligonucleotide against a Splicing Enhancer Sequence within Exon 1 of the MSTN Gene Inhibits Pre-mRNA Maturation to Act as a Novel Myostatin Inhibitor.
Int J Mol Sci
; 23(9)2022 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563408
9.
Renadirsen, a Novel 2'OMeRNA/ENA® Chimera Antisense Oligonucleotide, Induces Robust Exon 45 Skipping for Dystrophin In Vivo.
Curr Issues Mol Biol
; 43(3): 1267-1281, 2021 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34698059
10.
A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series.
BMC Nephrol
; 22(1): 380, 2021 11 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34774011
11.
Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19.
Pediatr Hematol Oncol
; 38(6): 515-527, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33622161
12.
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.
Kidney Int
; 98(5): 1308-1322, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32554042
13.
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.
Hum Genet
; 139(2): 247-255, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31919629
14.
Urinary Titin Is a Novel Biomarker for Muscle Atrophy in Nonsurgical Critically Ill Patients: A Two-Center, Prospective Observational Study.
Crit Care Med
; 48(9): 1327-1333, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32706557
15.
The ACTN3 577XX Null Genotype Is Associated with Low Left Ventricular Dilation-Free Survival Rate in Patients with Duchenne Muscular Dystrophy.
J Card Fail
; 26(10): 841-848, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32791185
16.
Onset mechanism of a female patient with Dent disease 2.
Clin Exp Nephrol
; 24(10): 946-954, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32666344
17.
Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.
Clin Exp Nephrol
; 24(7): 606-612, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32201916
18.
Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of the CD44 Gene.
Int J Mol Sci
; 21(23)2020 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33266296
19.
Intronic Alternative Polyadenylation in the Middle of the DMD Gene Produces Half-Size N-Terminal Dystrophin with a Potential Implication of ECG Abnormalities of DMD Patients.
Int J Mol Sci
; 21(10)2020 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32443516
20.
Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer.
Hum Genet
; 138(7): 771-785, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31168774