Screening for the Carbonic Anhydrase IV Gene Mutations in Chinese Retinitis Pigmentosa Patients

Tian, Yu; Tang, Lanhua; Cui, Juanlian; Zhu, Xiaohua

doi:10.3109/02713680903503512

Cited by 13 publications

(13 citation statements)

References 16 publications

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“…Loss of function of NCoR1 protein significantly increases the strength and power of mouse muscles (Yamamoto et al, 2011). CA4, a member of the CA family, belongs to the zinc metalloenzymes and has a role in inherited renal abnormalities of bicarbonate transport (Alvarez et al, 2007;Tian et al, 2010). C1QTNF1, a protein-coding gene, has a role in the regulation of glucose metabolic processes (Jeon et al, 2008;Chalupova et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

Transcriptome analysis of skeletal muscle at prenatal stages in Polled Dorset versus Small-tailed Han sheep

Liu

et al. 2015

Genet. Mol. Res.

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ABSTRACT. The objectives of the present study were to identify additional genes that may play important roles in the regulation of skeletal muscle growth and development, and to provide fundamental information for understanding the underlying molecular mechanisms. Eighteen cDNA libraries were constructed from the longissimus muscle of Polled Dorset (PD) and Small-tailed Han (SH) fetuses. To reveal the differences between the two species, we analyzed the differences in gene expression in 60-, 90-and 120-day fetal skeletal muscle by applying Agilent ovine genome-wide microarray. In this study, we obtained 17,704 genes using a chip containing 39,242 probes. There were 88 differentially expressed genes in the 60-day group (P < 0.05), 128 genes in the 90-day group (P < 0.05), and 340 genes in the 120-day group (P < 0.05) between the two breeds. The differentially expressed genes were grouped in different GO categories and signaling pathways. These results suggested that there are many genetic differences in the muscle growth and development transcriptomes between these two breeds. This study laid the foundation for future genomic research in sheep.

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Section: Discussionmentioning

confidence: 99%

Transcriptome analysis of skeletal muscle at prenatal stages in Polled Dorset versus Small-tailed Han sheep

Liu

et al. 2015

Genet. Mol. Res.

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“…The cell lysates transfected with the R14W and A12T mutant CA IV showed 70% and 71% activity, respectively, compared with wild-type CA activity (32,65). The cell lysates transfected with the R14W and A12T mutant CA IV showed 70% and 71% activity, respectively, compared with wild-type CA activity (32,65).…”

Section: Disease-causing Mutations In Ca IVmentioning

confidence: 95%

“…RP-17 is one of the many inherited forms of a retinal degeneration in the eye that can result in complete blindness (24,(28)(29)(30)32,65). The diseases are named in the order of their discovery, not by gene localization.…”

Section: Disease-causing Mutations In Ca IVmentioning

confidence: 99%

Carbonic Anhydrase IV

Waheed

Sly

2015

Carbonic Anhydrases as Biocatalysts

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“…Despite this large number of genes, the vast majority was mapped in populations other than Chinese. Up to date no single gene or mutation contributes to a large proportion of RP in Chinese has been reported, [11][12][13][14][15][16][17][18][19] as does p.P23H of rhodopsin (RHO, MIM 180380) in Caucasians. The RP33 locus, initially mapped to chromosomal region 2cen-q12.1, was identified in a large Chinese family with adRP.…”

Section: Introductionmentioning

confidence: 99%

Contribution of SNRNP200 sequence variations to retinitis pigmentosa

Zhang

Lai

Chiang

et al. 2013

Eye

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Purpose Mutations in the SNRNP200 gene have been reported to cause autosomal dominant retinitis pigmentosa (adRP). In this study, we evaluate the mutation profile of SNRNP200 in a cohort of southern Chinese RP patients. Methods Twenty adRP patients from 11 families and 165 index patients with non-syndromic RP with mixed inheritance patterns were screened for mutations in the mutation hotspots of SNRNP200. These included exons 12-16, 22-32, and 38-45, which covered the two helicase ATP-binding domains in DEAD-box and two sec-63 domains. The targeted regions were amplified by polymerase chain reaction and analyzed by direct DNA sequencing, followed by in silico analyses. Results Totally 26 variants were identified, 18 of which were novel.

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Screening for the Carbonic Anhydrase IV Gene Mutations in Chinese Retinitis Pigmentosa Patients

Abstract: The results suggest that the expression level of CA IV may be important to maintain retina function in RP.

Cited by 13 publications

References 16 publications

Transcriptome analysis of skeletal muscle at prenatal stages in Polled Dorset versus Small-tailed Han sheep

Transcriptome analysis of skeletal muscle at prenatal stages in Polled Dorset versus Small-tailed Han sheep

Carbonic Anhydrase IV

Contribution of SNRNP200 sequence variations to retinitis pigmentosa

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