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Longitudinal data of serum creatine kinase levels and motor, pulmonary, and cardiac functions in 337 patients with Duchenne muscular dystrophy.
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- Muscle & Nerve, 2024, v. 69, n. 5, p. 604, doi. 10.1002/mus.28073
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- Article
Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report.
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- SAGE Open Medical Case Reports, 2024, p. 1, doi. 10.1177/2050313X231221436
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- Article
A novel splice variant of the human MSTN gene encodes a myostatin‐specific myostatin inhibitor.
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- Journal of Cachexia, Sarcopenia & Muscle, 2023, v. 14, n. 5, p. 2289, doi. 10.1002/jcsm.13314
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- Article
All reported non-canonical splice site variants in GLA cause aberrant splicing.
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- Clinical & Experimental Nephrology, 2023, v. 27, n. 9, p. 737, doi. 10.1007/s10157-023-02361-x
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- Article
A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2190
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- Article
Detecting pathogenic deep intronic variants in Gitelman syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2576, doi. 10.1002/ajmg.a.62885
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- Article
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.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 9, p. 5016, doi. 10.3390/ijms23095016
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- Article
A sandwich ELISA kit reveals marked elevation of titin N‐terminal fragment levels in the urine of mdx mice.
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- Animal Models & Experimental Medicine, 2022, v. 5, n. 1, p. 48, doi. 10.1002/ame2.12204
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- Article
Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.
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- Clinical & Experimental Nephrology, 2022, v. 26, n. 2, p. 140, doi. 10.1007/s10157-021-02135-3
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- Article
A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series.
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- 2021
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- Publication type:
- journal article
Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells.
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- Life (2075-1729), 2021, v. 11, n. 9, p. 978, doi. 10.3390/life11090978
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- Article
Correction to: Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Urinary Titin N-Fragment as a Biomarker of Muscle Atrophy, Intensive Care Unit-Acquired Weakness, and Possible Application for Post-Intensive Care Syndrome.
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- Journal of Clinical Medicine, 2021, v. 10, n. 4, p. 614, doi. 10.3390/jcm10040614
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- Article
Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of the CD44 Gene.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 23, p. 9136, doi. 10.3390/ijms21239136
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- Article
Dystrophin Dp71ab is monoclonally expressed in human satellite cells and enhances proliferation of myoblast cells.
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- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-74157-y
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- Article
Cellular senescence-mediated exacerbation of Duchenne muscular dystrophy.
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- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-73315-6
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- Article
Onset mechanism of a female patient with Dent disease 2.
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- Clinical & Experimental Nephrology, 2020, v. 24, n. 10, p. 946, doi. 10.1007/s10157-020-01926-4
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- Article
Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1342
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- Publication type:
- Article
Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.
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- Clinical & Experimental Nephrology, 2020, v. 24, n. 7, p. 606, doi. 10.1007/s10157-020-01876-x
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- Publication type:
- Article
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.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 10, p. 3555, doi. 10.3390/ijms21103555
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- Article
Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels.
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- Genetics, 2020, v. 214, n. 4, p. 1079, doi. 10.1534/genetics.119.303006
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- Publication type:
- Article
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.
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- Human Genetics, 2020, v. 139, n. 2, p. 247, doi. 10.1007/s00439-019-02107-4
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- Article
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.
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- Human Genetics, 2019, v. 138, n. 7, p. 771, doi. 10.1007/s00439-019-02036-2
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- Article
Detection of Dystrophin Dp71 in Human Skeletal Muscle Using an Automated Capillary Western Assay System.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 6, p. 1546, doi. 10.3390/ijms19061546
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- Article
Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits.
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- Respiration, 2018, v. 95, n. 2, p. 166, doi. 10.1159/000484209
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- Article
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.
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- 2017
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- Publication type:
- journal article
Interleukin-1beta (IL-1β)-induced Notch ligand Jagged1 suppresses mitogenic action of IL-1β on human dystrophic myogenic cells.
- Published in:
- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0188821
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- Article
Dystrophin Dp116: A Yet to Be Investigated Product of the Duchenne Muscular Dystrophy Gene.
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- Genes, 2017, v. 8, n. 10, p. 251, doi. 10.3390/genes8100251
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- Article
Development of an orally available inhibitor of CLK1 for skipping a mutated dystrophin exon in Duchenne muscular dystrophy.
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- Scientific Reports, 2017, p. 46126, doi. 10.1038/srep46126
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- Publication type:
- Article
DMD transcripts in CRL-2061 rhabdomyosarcoma cells show high levels of intron retention by intron-specific PCR amplification.
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- Cancer Cell International, 2017, v. 17, p. 1, doi. 10.1186/s12935-017-0428-4
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- Publication type:
- Article
2'-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping.
- Published in:
- Genes, 2017, v. 8, n. 2, p. 67, doi. 10.3390/genes8020067
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- Article
Establishment of a highly sensitive sandwich ELISA for the N-terminal fragment of titin in urine.
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- Scientific Reports, 2016, p. 39375, doi. 10.1038/srep39375
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- Publication type:
- Article
HEK293 cells express dystrophin Dp71 with nucleus-specific localization of Dp71ab.
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- Histochemistry & Cell Biology, 2016, v. 146, n. 3, p. 301, doi. 10.1007/s00418-016-1439-2
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- Publication type:
- Article
Early detection of tumor relapse/regrowth by consecutive minimal residual disease monitoring in high-risk neuroblastoma patients.
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- Oncology Letters, 2016, v. 12, n. 2, p. 1119, doi. 10.3892/ol.2016.4682
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- Article
Differential expression of minimal residual disease markers in peripheral blood and bone marrow samples from high-risk neuroblastoma patients.
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- Oncology Letters, 2015, v. 10, n. 5, p. 3228, doi. 10.3892/ol.2015.3710
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- Publication type:
- Article
Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events.
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- Human Genetics, 2015, v. 134, n. 9, p. 993, doi. 10.1007/s00439-015-1581-2
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- Publication type:
- Article
Early pathogenesis of Duchenne muscular dystrophy modelled in patient-derived human induced pluripotent stem cells.
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- Scientific Reports, 2015, p. 12831, doi. 10.1038/srep12831
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- Article
Tissue- and case-specific retention of intron 40 in mature dystrophin mRNA.
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- Journal of Human Genetics, 2015, v. 60, n. 6, p. 327, doi. 10.1038/jhg.2015.24
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- Article
Involvement of aldehyde dehydrogenase 1A2 in the regulation of cancer stem cell properties in neuroblastoma.
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- International Journal of Oncology, 2015, v. 46, n. 3, p. 1089, doi. 10.3892/ijo.2014.2801
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- Article
The emergence of CD20-/CD19- tumor cells after rituximab therapy for Epstein-Barr virus-associated post-transplant lymphoproliferative disorder complicated with hemophagocytic lymphohistiocytosis.
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- 2014
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- Publication type:
- journal article
Natural history of genetically proven autosomal recessive Alport syndrome.
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- Pediatric Nephrology, 2014, v. 29, n. 9, p. 1535, doi. 10.1007/s00467-014-2797-4
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- Article
A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.
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- Journal of Human Genetics, 2014, v. 59, n. 8, p. 423, doi. 10.1038/jhg.2014.36
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- Article
Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.
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- Journal of Human Genetics, 2014, v. 59, n. 1, p. 46, doi. 10.1038/jhg.2013.119
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- Publication type:
- Article
SAP155-mediated c-myc suppressor far-upstream element-binding protein-interacting repressor splicing variants are activated in colon cancer tissues.
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- Cancer Science, 2013, v. 104, n. 2, p. 149, doi. 10.1111/cas.12058
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- Publication type:
- Article
Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28.
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- Journal of Human Genetics, 2013, v. 58, n. 1, p. 33, doi. 10.1038/jhg.2012.131
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- Article
Treatment of preterm infants with West syndrome: Differences due to etiology.
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- Pediatrics International, 2012, v. 54, n. 6, p. 892, doi. 10.1111/j.1442-200X.2012.03708.x
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- Article
Acetaminophen administration in a patient with Gilbert's syndrome.
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- Pediatrics International, 2012, v. 54, n. 6, p. 934, doi. 10.1111/j.1442-200X.2012.03602.x
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- Article
Paramyotonia congenita: From clinical diagnosis to in silico protein modeling analysis.
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- Pediatrics International, 2012, v. 54, n. 5, p. 602, doi. 10.1111/j.1442-200X.2012.03646.x
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- Publication type:
- Article
Long-term outcome and intervention of urea cycle disorders in Japan.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 777, doi. 10.1007/s10545-011-9427-0
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- Article
Culture-Proven Neonatal Sepsis in Japanese Neonatal Care Units in 2006-2008.
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- Neonatology (16617800), 2012, v. 102, n. 1, p. 75, doi. 10.1159/000337833
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- Article