Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

Inayat Ullah; Firoz Kabir; Clare Brooks S Gottsch; Muhammad Asif Naeem; Aditya A Guru; Radha Ayyagari; Shaheen N Khan; Sheikh Riazuddin; Javed Akram; S Amer Riazuddin

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Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

机译：在家族性色素性视网膜炎病例中发现磷酸二酯酶6突变

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To delineate the genetic determinants associated with retinitis pigmentosa (RP), a hereditary retinal disorder, we recruited four large families manifesting cardinal symptoms of RP. We localized these families to regions on the human genome harboring the α and β subunits of phosphodiesterase 6 and identified mutations that were absent in control chromosomes. Our data suggest that mutations in PDE6A and PDE6B are responsible for the retinal phenotype in these families.

机译：为了描述与遗传性视网膜疾病色素性视网膜炎（RP）相关的遗传决定因素，我们招募了四个表现出RP基本症状的大家族。我们将这些家族定位于人类基因组中具有磷酸二酯酶6的α和β亚基的区域，并确定了控制染色体中不存在的突变。我们的数据表明，PDE6A和PDE6B中的突变是这些家族中视网膜表型的原因。

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《Human genome variation.》 |2016年第4期|共页
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Inayat Ullah; Firoz Kabir; Clare Brooks S Gottsch; Muhammad Asif Naeem; Aditya A Guru; Radha Ayyagari; Shaheen N Khan; Sheikh Riazuddin; Javed Akram; S Amer Riazuddin;
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1. Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa [J] . Shahbaz AliS. Amer RiazuddinAmber ShahzadiIdrees A. NasirShaheen N. KhanTayyab HusnainJaved AkramPaul A. SievingJ. Fielding HejtmancikSheikh Riazuddin Molecular vision . 2011,第2011期

机译：在常染色体隐性遗传性视网膜色素变性的巴基斯坦近亲家庭中发现的杆磷酸二酯酶β亚基突变
2. The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo [J] . Manisha Anand, Hemant Khanna, Kollu N. Rao Biology Open . 2016,第4期

机译：睫状疾病蛋白RPGRORF15（色素性视网膜炎GTPase调节剂）的羧基末端突变热点在体内被谷氨酰化疾病蛋白RPGRORF15（色素性视网膜炎GTPase调节剂）在体内被谷氨酰化
3. The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo [J] . Manisha Anand, Hemant Khanna, Kollu N. Rao Biology Open . 2016,第4期

机译：睫状疾病蛋白RPGRORF15（色素性视网膜炎GTPase调节剂）的羧基末端突变热点在体内被谷氨酰化疾病蛋白RPGRORF15（色素性视网膜炎GTPase调节剂）在体内被谷氨酰化
4. Measuring dysfunction of cone photoreceptors in retinitis pigmentosa with phase-sensitive AO-OCT [C] . Ayoub Lassoued, Furu Zhang, Kazuhiro Kurokawa, Conference on ophthalmic technologies . 2020

机译：用相敏AO-OCT测量色素性视网膜炎中视锥细胞感光功能障碍
5. Investigation of daily four month sildenafil administration on heterozygous carriers of a phosphodiesterase 6 mutation in a canine model of autosomal recessive retinitis pigmentosa. [D] . Pierce, Kenneth E., Jr. 2011

机译：在常染色体隐性遗传性视网膜炎的犬模型中，每天四个月西地那非对磷酸二酯酶6突变的杂合子载体给药的研究。
6. Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa [O] . Inayat Ullah, Firoz Kabir, Clare Brooks S Gottsch, 2016

机译：在家族性色素性视网膜炎病例中发现磷酸二酯酶6突变
7. Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa [O] . Inayat Ullah, Firoz Kabir, Clare Brooks S Gottsch, 2016

机译：磷酸二酯酶6中鉴定在视网膜炎粒子炎的家族病症中的突变

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

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