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A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors

机译：一种新的p。（glu111val）与锥杆营养不良相关的Guca1a中的畸形突变导致感光体中钙感应和扰动的第二信使稳定性受损

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Valerio Marino; Giuditta Dal Cortivo; Elisa Oppici; Paolo Enrico Maltese; Fabiana D’Esposito; Elena Manara; Lucia Ziccardi; Benedetto Falsini; Adriano Magli; Matteo Bertelli; Daniele Dell’Orco;
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1. A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors [J] . Marino Valerio, Dal Cortivo Giuditta, Oppici Elisa, Human Molecular Genetics . 2018,第24期

机译：一种新的p。（glu111val）与锥杆营养不良相关的Guca1a中的畸形突变导致感光体中的钙感应和扰动的第二信使稳定性受损
2. Missense mutations affecting Ca2+-coordination in GCAP1 lead to cone-rod dystrophies by altering protein structural and functional properties [J] . Dal Cortivo Giuditta, Marino Valerio, Boni Francesco, Biochimica et biophysica acta. Molecular cell research . 2020,第10期

机译：通过改变蛋白质结构和功能性能，影响GCAP1中Ca2 +的致命突变导致锥杆营养不良
3. Two retinal dystrophy-associated missense mutations in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase [J] . Marino Valerio, Scholten Alexander, Koch Karl-Wilhelm, Human Molecular Genetics . 2015,第23期

机译：具有独特分子特性的GUCA1A中两个与视网膜营养不良相关的错义突变导致视网膜鸟苷酸环化酶的类似异常调节
4. Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C [D] . Yamamoto Koji, Matsushita Tadashi, Sugiura Isamu, 1992

机译：纯合蛋白C缺乏症：鉴定导致突变蛋白C分泌受损的新型错义突变
5. Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD [O] . Suzhen Tang, Yujun Xia, Yunhai Dai, 2019

机译：在常染色体显性视锥细胞营养不良中的新型GUCA1A错义突变（D144G）的功能表征：COD中的新型致病性GUCA1A变体
6. Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase [O] . Kitiratschky Veronique B. D., Behnen Petra, Kellner Ulrich, 2009

机译：参与遗传性锥体营养不良的GUCa1a基因突变会损害钙介导的鸟苷酸环化酶调节

A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors

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