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  • 1
    Online Resource
    Online Resource
    Clinical Significance of Preserving Spontaneous QRS Wave in the Therapy of DDD Pacing for Sick Sinus Syndrome
    Wiley ; 2004
    In:  Pacing and Clinical Electrophysiology Vol. 27, No. 9 ( 2004-09), p. 1212-1216
    Details
    In: Pacing and Clinical Electrophysiology, Wiley, Vol. 27, No. 9 ( 2004-09), p. 1212-1216
    Abstract: The aim of this clinical crossover study was to elucidate the effects of atrioventricular (AV) synchronous pacing on cardiac function in patients with sick sinus syndrome (SSS). Thirty SSS patients, each with dual chamber pacemaker (DDD), were enrolled and divided into two groups based on echocardiographic findings. Group A (n = 16) had hypertensive heart disease (wall thickness 11 ∼ 12 mm) or mitral or aortic regurgitation (Grade I or II). Group B (n = 14) had no organic heart disease. Three successive 3‐month pacing periods were tested. For the first 3 months, long AV delay that achieved 〉 80% ventricular sensing was chosen. For the next 3 months, AV delay was abbreviated to achieve 〉 80% ventricular pacing at an optimal AV interval. For the final 3 months, the first setting was resumed. At the end of each period, M mode echocardiography, pulsed‐Doppler study, and measurement of plasma brain natriuretic peptide (BNP) level were conducted. In both groups, echocardiographic parameters were not significantly changed during the evaluation. In group A, plasma BNP level was significantly higher at the end of the short AV delay period than at the long AV delay period (P = 0.009), while in group B it did not differ during each period. AV synchronous pacing ( 〉 80% ventricular pacing) in the SSS patients with a DDD pacemaker implanted could increase the ventricular load, and it is better to preserve the spontaneous QRS with the DDD mode with prolonged AV delay in patients with mild hypertensive or valvular disease.
    Type of Medium: Online Resource
    ISSN: 0147-8389 , 1540-8159
    URL: Issue
    URL: Article
    DOI: 10.1111/pace.2004.27.issue-9
    DOI: 10.1111/j.1540-8159.2004.00611.x
    Language: English
    Publisher: Wiley
    Publication Date: 2004
    detail.hit.zdb_id: 2037547-5
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  • 2
    Online Resource
    Online Resource
    An assessment of mast cells and myofibroblasts in denture‐induced fibrous hyperplasia
    Wiley ; 2014
    In:  Journal of Oral Pathology & Medicine Vol. 43, No. 1 ( 2014-01), p. 53-60
    Details
    In: Journal of Oral Pathology & Medicine, Wiley, Vol. 43, No. 1 ( 2014-01), p. 53-60
    Abstract: The pathogenesis of denture‐induced fibrous hyperplasias has not been examined in detail to explain how tissue injury results in fibrous hyperplasia of the oral mucosa. Patients and Methods We examined the presence of mast cells and myofibroblasts in 33 denture‐induced fibrous hyperplasias ( DIFH ) compared with 10 healthy gingival tissues. The parameters examined included mast cell numbers, tissue distribution, degranulation, and cell subtypes using immunohistochemistry. The presence of myofibroblasts and their likely origin was also examined by double immunofluorescense staining. Furthermore, we investigated the synthesis of osteopontin and TGF ‐β, considered to be involved in the transformation of a fibroblast to a myofibroblast. Results The results demonstrated that the mast cell numbers are significantly increased in the DIFH compared with non‐disease controls. The mast cell localization in lesions was higher in the superficial areas with inflammatory cell infiltration compared with the deep fibrotic area ( P  〈  0.01). The number of tryptase‐positive mast cells was significantly higher compared with chymase‐positive ones. The TGF ‐β‐ or osteopontin‐positive cell infiltration into the lesion was found in high numbers. The presence of myofibroblasts was identified in 14 of 33 cases (42%), and some of these cells showed apoptosis when assessed by the TUNEL assay. On the survey of the origin of myofibroblasts, results showed α SMA and vimentin positivity indicating these transformed from fibroblasts. Conclusion These results are the first to show that mast cells and myofibroblasts can be detected in DIFH , indicating important roles of these cells in the pathogenesis of this lesion.
    Type of Medium: Online Resource
    ISSN: 0904-2512 , 1600-0714
    URL: Issue
    URL: Article
    DOI: 10.1111/jop.2013.43.issue-1
    DOI: 10.1111/jop.12072
    Language: English
    Publisher: Wiley
    Publication Date: 2014
    detail.hit.zdb_id: 2026385-5
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  • 3
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    Online Resource
    A birth of bipartite exon by intragenic deletion
    Wiley ; 2017
    In:  Molecular Genetics & Genomic Medicine Vol. 5, No. 3 ( 2017-05), p. 287-294
    Details
    In: Molecular Genetics & Genomic Medicine, Wiley, Vol. 5, No. 3 ( 2017-05), p. 287-294
    Abstract: Disease‐causing mutations that activate transposon‐derived exons without creating a new splice‐site consensus have been reported rarely, but they provided unique insights into our understanding of structural motifs required for inclusion of intronic sequences in mature transcripts. Methods We employ a combination of experimental and computational techniques to characterize the first de novo bipartite exon activation in genetic disease. Results The exon originated from two separate introns as a result of an in‐frame COL 4A5 deletion associated with a typical Alport syndrome. The deletion encompassed exons 38 through 41 and activated a cryptic 3′ and 5′ splice site that were derived from intron 37 and intron 41, respectively. The deletion breakpoint was in the middle of the new exon, with considerable complementarity between the two exonic parts, potentially bringing the cryptic 3′ and 5′ splice site into proximity. The 3′ splice site, polypyrimidine tract and the branch site of the new exon were derived from an inactive, 5′ truncated LINE ‐1 retrotransposon. This ancient LINE ‐1 copy sustained a series of mutations that created the highly conserved AG dinucleotide at the 3′ splice site early in primate development. The exon was fully included in mature transcripts and introduced a stop codon in the shortened COL 4A5 mRNA , illustrating pitfalls of inferring disease severity from DNA mutation alone. Conclusion These results expand the repertoire of mutational mechanisms that alter RNA processing in genetic disease and illustrate the extraordinary versatility of transposed elements in shaping the new exon‐intron structure and the phenotypic variability.
    Type of Medium: Online Resource
    ISSN: 2324-9269 , 2324-9269
    URL: Issue
    URL: Article
    DOI: 10.1002/mgg3.2017.5.issue-3
    DOI: 10.1002/mgg3.277
    Language: English
    Publisher: Wiley
    Publication Date: 2017
    detail.hit.zdb_id: 2734884-2
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  • 4
    Online Resource
    Online Resource
    Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay
    Wiley ; 2020
    In:  Molecular Genetics & Genomic Medicine Vol. 8, No. 8 ( 2020-08)
    Details
    In: Molecular Genetics & Genomic Medicine, Wiley, Vol. 8, No. 8 ( 2020-08)
    Abstract: X‐linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing is widely used for diagnosing XLAS; however, determining the pathogenicity of variants detected by such analyses can be difficult. Intronic variants or synonymous variants may cause inherited diseases by inducing aberrant splicing. Transcript analysis is necessary to confirm the pathogenicity of such variants, but it is sometimes difficult to extract mRNA directly from patient specimens. Methods In this study, we conducted in vitro splicing analysis using a hybrid minigene assay and specimens from three XLAS patients with synonymous variants causing aberrant splicing, including previously reported pathogenic mutations in the same codon. The variants were c.876 A 〉 T (p.Gly292=), c.2358 A 〉 G (p.Pro786=), and c.3906 A 〉 G (p.Gln1302=). Results The results from our hybrid minigene assay were sufficient to predict splicing abnormalities; c.876 A 〉 T cause 17‐bp del and 35‐bp del, c.2358 A 〉 G cause exon 29 skipping, c.3906 A 〉 G cause exon 42 skipping, which are very likely to cause pathogenicity. Further, patients carrying c.2358 A 〉 G exhibited a mild phenotype that may have been associated with the presence of both normal and abnormally spliced transcripts. Conclusion The minigene system was shown to be a sensitive assay and a useful tool for investigating the pathogenicity of synonymous variants.
    Type of Medium: Online Resource
    ISSN: 2324-9269 , 2324-9269
    URL: Issue
    URL: Article
    DOI: 10.1002/mgg3.v8.8
    DOI: 10.1002/mgg3.1342
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2734884-2
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  • 5
    Online Resource
    Online Resource
    Detecting pathogenic deep intronic variants in Gitelman syndrome
    Wiley ; 2022
    In:  American Journal of Medical Genetics Part A Vol. 188, No. 9 ( 2022-09), p. 2576-2583
    Details
    In: American Journal of Medical Genetics Part A, Wiley, Vol. 188, No. 9 ( 2022-09), p. 2576-2583
    Abstract: Gitelman syndrome (GS) is a rare, autosomal recessive, salt‐losing tubulopathy caused by loss of function in the SLC12A3 gene (NM_000339.2), which encodes the natrium chloride cotransporter. The detection of homozygous or compound heterozygous SLC12A3 variants is expected in GS, but 18%–40% of patients with clinical GS carry only one mutant allele. Previous reports identified some pathogenic deep intronic variants in SLC12A3 . Here, we report the screening of SLC12A3 deep intronic variants in 13 patients with suspected GS carrying one mutated SLC12A3 allele. Variant screening used the HaloPlex Target Enrichment System Kit capturing whole introns and the promotor region of SLC12A3 , followed by SureCall variant analysis. Rare intronic variants ( 〈 1% frequency) were identified, and pathogenicity evaluated by the minigene system. Deep intronic variant screening detected seven rare SLC12A3 variants from six patients. Only one variant showed pathogenicity in the minigene system (c.602‐16G 〉 A, intron 4) through activation of a cryptic acceptor site. No variants were detected in the promotor region. Deep intronic screening identified only one pathogenic variant in patients with suspected GS carrying monoallelic SLC12A3 variants. Our results suggest that deep intronic variants partially explain the cause of monoallelic variants in patients with GS.
    Type of Medium: Online Resource
    ISSN: 1552-4825 , 1552-4833
    URL: Issue
    URL: Article
    DOI: 10.1002/ajmg.a.v188.9
    DOI: 10.1002/ajmg.a.62885
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 1493479-6
    SSG: 12
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  • 6
    Online Resource
    Online Resource
    Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome
    Wiley ; 2019
    In:  Molecular Genetics & Genomic Medicine Vol. 7, No. 9 ( 2019-09)
    Details
    In: Molecular Genetics & Genomic Medicine, Wiley, Vol. 7, No. 9 ( 2019-09)
    Abstract: Alport syndrome (AS) is a hereditary disease caused by mutations in COL4A3‐5 genes. Recently, comprehensive genetic analysis has become the first‐line diagnostic tool for AS. However, no reports comparing mutation identification rates between conventional sequencing and comprehensive screening have been published. Methods In this study, 441 patients clinically suspected of having AS were divided into two groups and compared. The initial mutational analysis method involved targeted exome sequencing using next‐generation sequencing (NGS) ( n  = 147, NGS group) or Sanger sequencing for COL4A3/COL4A4/COL4A5 ( n  = 294, Sanger group). Results In the NGS group, 126 patients (86%) were diagnosed with AS by NGS, while two had pathogenic mutations in other genes, NPHS1 and EYA1 . Further, 239 patients (81%) were diagnosed with AS by initial analysis in the Sanger group. Thirteen patients who were negative for mutation detection in the Sanger group were analyzed by NGS; three were diagnosed with AS. Two had mutations in CLCN5 or LAMB2 . The final variant detection rate was 90%. Discussion Our results reveal that Sanger sequencing and targeted exome sequencing have high diagnostic ability. NGS also has the advantage of detecting other inherited kidney diseases and pathogenic mutations missed by Sanger sequencing.
    Type of Medium: Online Resource
    ISSN: 2324-9269 , 2324-9269
    URL: Issue
    URL: Article
    DOI: 10.1002/mgg3.v7.9
    DOI: 10.1002/mgg3.883
    Language: English
    Publisher: Wiley
    Publication Date: 2019
    detail.hit.zdb_id: 2734884-2
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  • 7
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    Online Resource
    Inherited salt‐losing tubulopathy: An old condition but a new category of tubulopathy
    Wiley ; 2020
    In:  Pediatrics International Vol. 62, No. 4 ( 2020-04), p. 428-437
    Details
    In: Pediatrics International, Wiley, Vol. 62, No. 4 ( 2020-04), p. 428-437
    Abstract: Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characterized by hypokalemia and metabolic alkalosis. Clinically, BS is classified into two types: the severe antenatal/neonatal type, which develops during the fetal period with polyhydramnios and preterm delivery; and the relatively mild classic type, which is usually found during infancy with failure to thrive. GS can be clinically differentiated from BS by its age at onset, usually after school age, or laboratory findings of hypomagnesemia and hypocalciuria. Recent advances in molecular biology have shown that these diseases can be genetically classified into type 1 to 5 BS and GS. As a result, it has become clear that the clinical classification of antenatal/neonatal BS, classic BS, and GS does not always correspond to the clinical symptoms associated with the genotypes in a one‐to‐one manner; and there is clinically no clear differential border between type 3 BS and GS. This has caused confusion among clinicians in the diagnosis of these diseases. It has been proposed that the disease name “inherited salt‐losing tubulopathy” can be used for cases of tubulopathies accompanied by hypokalemia and metabolic alkalosis. It is reasonable to use this term prior to genetic typing into type 1–5 BS or GS, to avoid confusion in a clinical setting. In this article, we review causative genes and phenotypic correlations, diagnosis, and treatment strategies for salt‐losing tubulopathy as well as the clinical characteristics of pseudo‐BS/GS, which can also be called a “salt‐losing disorder”.
    Type of Medium: Online Resource
    ISSN: 1328-8067 , 1442-200X
    URL: Issue
    URL: Article
    DOI: 10.1111/ped.v62.4
    DOI: 10.1111/ped.14089
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2008621-0
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