Mutation spectrum of NDP, FZD4 and TSPAN12 genes in Indian patients with retinopathy of prematurity

Rathi Sonika; Jalali Subhadra; Musada Ganeswara Rao; Patnaik Satish; Balakrishnan Divya; Hussain Anjli; Kaur Inderjeet

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Mutation spectrum of NDP, FZD4 and TSPAN12 genes in Indian patients with retinopathy of prematurity

机译：印度患者的NDP，FZD4和TSPAN12基因的突变谱治疗早熟视网膜病变

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Aim Retinopathy of prematurity (ROP) is a vasoproliferative eye disease in preterm infants. Based on its phenotypic similarities with familial exudative vitreo retinopathy (FEVR), the present study was conducted to screen the Norrin signalling pathway genes (already been implicated in FEVR) for understanding their involvement among Indian patients with ROP.

机译：前一种（ROP）的视网膜病变是早产儿的血糖激活眼疾病。基于其与家族性渗出性Vitreo视网膜病变（FEVR）的表型相似性，对本研究进行了筛选诺林信号通路基因（已经涉及FEVR）以了解他们对印度患者的rOP患者的参与。

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来源
《British journal of ophthalmology》 |2018年第2期|共6页
作者
Rathi Sonika; Jalali Subhadra; Musada Ganeswara Rao; Patnaik Satish; Balakrishnan Divya; Hussain Anjli; Kaur Inderjeet;
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LV Prasad Eye Inst Brien Holden Eye Res Ctr Kallam Anji Reddy Mol Genet Lab Hyderabad Andhra;

LV Prasad Eye Inst Smt Kanuri Santhamma Ctr Vitreo Retinal Dis Hyderabad Andhra Prades India;

LV Prasad Eye Inst Brien Holden Eye Res Ctr Kallam Anji Reddy Mol Genet Lab Hyderabad Andhra;

LV Prasad Eye Inst Brien Holden Eye Res Ctr Kallam Anji Reddy Mol Genet Lab Hyderabad Andhra;

LV Prasad Eye Inst Smt Kanuri Santhamma Ctr Vitreo Retinal Dis Hyderabad Andhra Prades India;

LV Prasad Eye Inst Smt Kanuri Santhamma Ctr Vitreo Retinal Dis Hyderabad Andhra Prades India;

LV Prasad Eye Inst Brien Holden Eye Res Ctr Kallam Anji Reddy Mol Genet Lab Hyderabad Andhra;

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正文语种 eng
中图分类眼科学;
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1. Mutation spectrum of NDP, FZD4 and TSPAN12 genes in Indian patients with retinopathy of prematurity [J] . Rathi Sonika, Jalali Subhadra, Musada Ganeswara Rao, British journal of ophthalmology . 2018,第2期

机译：印度患者NDP，FZD4和TSPAN12基因的突变谱，其早熟视网膜病变
2. Mutations in LRP5, FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy [J] . Feng-Qin Rao, Xue-Bi Cai, Fei-Fei Cheng, Investigative ophthalmology & visual science . 2017,第5期

机译：LRP5，FZD4，TSPAN12，NDP，ZNF408或KIF11基因的突变占中国家族性渗出性玻璃体视网膜病变患者的38.7％
3. Mutations in LRP5, FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy [J] . Rao Feng-Qin, Cai Xue-Bi, Cheng Fei-Fei, Investigative ophthalmology & visual science . 2017,第5期

机译：LRP5，FZD4，TSPAN12，NDP，ZNF408或KIF11基因中的突变占中国家族渗透性玻璃体病症的38.7％的患者
4. The Spectrum of SCN5A Gene Mutations in Singapore Brugada Syndrome Patients [C] . Rita Yu Yin Yong, BY. Tan, LSH. Gan, International Molecular Medicine Tri-Conference. . 2016

机译：新加坡巴鲁达综合征患者SCN5A基因突变的谱
5. RESPONSE SPECIFICITY WITH ETHYL-METHANESULFONATE (EMS): THE EFFECT OF GENE POSITION UPON OBSERVED MUTATIONAL SPECTRUMS IN DROSOPHILA MELANOGASTER AND DIFFERENTIAL ALKYLATING SENSITIVITY DURING SPERMATOGENESIS IN THE HONEYBEE (APIS MELLIFERA). [D] . BISHOP, JACK BELMONT. 1974

机译：甲基磺酸乙酯（EMS）的响应特异性：基因位置对果蝇（Drossophella melanoster）中观察到的互变谱的影响以及在蜜蜂生精过程中差异生代的烷基化敏感性（API）。
6. Detection of FZD4 LRP5 and TSPAN12 Genes Variants in Malay Premature Babies with Retinopathy of Prematurity [O] . Siti Zulaikha Nashwa Mohd Khair, Abdul Salim Ismail, Zunaina Embong, 2019

机译：马来早产儿视网膜病变的早产儿FZD4LRP5和TSPAN12基因变异的检测
7. Detection of FZD4, LRP5 and TSPAN12 genes variants in Malay premature babies with retinopathy of prematurity [O] . AbdulAziz Mohamed Yusoff, SitiZulaikha Nashwa Mohd Khair, AbdulSalim Ismail, 2019

机译：用早产的视网膜病变检测马来过早婴儿的FZD4，LRP5和TSPAN12基因变种

Mutation spectrum of NDP, FZD4 and TSPAN12 genes in Indian patients with retinopathy of prematurity

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