Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic &lt;i&gt;Sdccag8&lt;/i&gt; mutations

Ren, Zhilin; Zhang, Houbin; Li, Lin; Yang, Zhenglin; Jiang, Li

doi:10.24272/j.issn.2095-8137.2021.387

Cited by 2 publications

(1 citation statement)

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“…To elucidate the pathogenesis of PKD and test the efficacy of the candidate drugs, spontaneous and genetically modified laboratory animal models are the primary source of development information. The revelation of the nucleotide sequences of PKD1 , PKD2 , and PKHD1 has led to the development of various genetically modified animals, including transgenic animals with a foreign gene inserted, knockout (KO) animals with a specific gene disrupted, conditional KO (CKO) animals with cells forming a specific organ intentionally damaged or genetically disrupted at specific locations, knock-in animal models with hypomorphic genetic mutations, and genome-editing animal models that have been modified using new techniques such as the CRISPR/Cas9 method [ 16 , 17 , 18 , 19 ]. This study introduces the use of animal models in research on renal cystic disease and characterizes different animal model strains.…”

Section: Introductionmentioning

confidence: 99%

Review of the Use of Animal Models of Human Polycystic Kidney Disease for the Evaluation of Experimental Therapeutic Modalities

Nagao

Yamaguchi

2023

JCM

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Autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease, and nephronophthisis are hereditary disorders with the occurrence of numerous cysts in both kidneys, often causing chronic and end-stage renal failure. Animal models have played an important role in recent advances in research not only on disease onset and progressive mechanisms but also on the development of therapeutic interventions. For a long time, spontaneous animal models have been used as the primary focus for human diseases; however, after the identification of the nucleotide sequence of the responsible genes, PKD1, PKD2, PKHD1, and NPHPs, various types of genetically modified models were developed by genetic and reproductive engineering techniques and played the leading role in the research field. In this review, we present murine models of hereditary renal cystic diseases, discussing their potential benefits in the development of therapeutic strategies.

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Section: Introductionmentioning

confidence: 99%

Review of the Use of Animal Models of Human Polycystic Kidney Disease for the Evaluation of Experimental Therapeutic Modalities

Nagao

Yamaguchi

2023

JCM

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Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies

et al. 2023

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Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial. These diseases are most often the result of defects in rod and/or cone photoreceptor and retinal pigment epithelium function, development, or both. The genes associated with these diseases, when mutated, produce altered protein products that have downstream effects in pathways critical to vision, including phototransduction, the visual cycle, photoreceptor development, cellular respiration, and retinal homeostasis. The aim of this manuscript is to provide a comprehensive review of the underlying molecular mechanisms of pathogenesis of IRDs by delving into many of the genes associated with IRD development, their protein products, and the pathways interrupted by genetic mutation.

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Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic <i>Sdccag8</i> mutations

Cited by 2 publications

References 46 publications

Review of the Use of Animal Models of Human Polycystic Kidney Disease for the Evaluation of Experimental Therapeutic Modalities

Review of the Use of Animal Models of Human Polycystic Kidney Disease for the Evaluation of Experimental Therapeutic Modalities

Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies

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