Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD)

McCabe Mark J.; Hu Youli; Gregory Louise C.; Gaston-Massuet Carles; Alatzoglou Kyriaki S.; Saldanha Jose W.; Gualtieri Angelica; Thankamony Ajay; Hughes Ieuan; Townshend Sharron; Martinez-Barbera Juan-Pedro; Bouloux Pierre-Marc; Dattani Mehul T.

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Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD)

机译：萤光素酶测定法在三位女性患有视光发育不良（SOD）的KAL1变异体的体外功能评估中的新应用

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摘要

KAL1 is implicated in 5% of Kallmann syndrome cases, a disorder which genotypically overlaps with septo-optic dysplasia (SOD). To date, a reporter-based assay to assess the functional consequences of KAL1 mutations is lacking. We aimed to develop a luciferase assay for novel application to functional assessment of rare KAL1 mutations detected in a screen of 422 patients with SOD.

机译：KAL1涉及5％的Kallmann综合征病例，这种疾病在基因型上与视光发育不良（SOD）重叠。迄今为止，尚缺乏基于报告基因的分析方法来评估KAL1突变的功能后果。我们旨在开发一种萤光素酶检测方法，以新颖地应用于对422名SOD患者进行筛查时发现的罕见KAL1突变的功能评估。

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《Molecular and Cellular Endocrinology》 |2015年第3期|共10页
作者
McCabe Mark J.; Hu Youli; Gregory Louise C.; Gaston-Massuet Carles; Alatzoglou Kyriaki S.; Saldanha Jose W.; Gualtieri Angelica; Thankamony Ajay; Hughes Ieuan; Townshend Sharron; Martinez-Barbera Juan-Pedro; Bouloux Pierre-Marc; Dattani Mehul T.;
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正文语种 eng
中图分类内分泌腺疾病及代谢病;
关键词
Luciferase assay; Septo-optic dysplasia; KAL1; Kallmann syndrome; Females;

机译：萤光素酶检测;视光发育异常;KAL1;Kallmann综合征;女性;

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1. Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD) [J] . McCabe Mark J., Hu Youli, Gregory Louise C., Molecular and Cellular Endocrinology . 2015,第3期

机译：萤光素酶测定法在三位女性患有视光发育不良（SOD）的KAL1变异体的体外功能评估中的新应用
2. Gaussia Luciferase Variant for High-Throughput Functional Screening Applications [J] . Casey A. Maguire, Nikolaos C. Deliolanis, Lisa Pike, Analytical chemistry . 2009,第16期

机译：高通荧光素酶变体在高通量功能筛选中的应用
3. Utilizing optical coherence tomography in diagnosing a unique presentation of chiasmal hypoplasia variant of septo-optic dysplasia [J] . EpsteinA.E., CavuotoK.M., ChangT.C. Journal of neuro-ophthalmology: Official journal of the North American Neuro-Ophthalmology Society . 2014,第1期

机译：利用光学相干断层扫描在诊断视光发育不全的黄斑发育不全变异中的独特表现
4. Modification of the ASTM Platelet and Leukocyte Assay - Use of an Alternative and Clinically Relevant Anticoagulant: An In-vitro Hemocompatibility Assessment of Blood Contacting Medical Devices [C] . Tim Schatz, Abby Beltrame, Sarah Howard, Design of Medical Devices Conference . 2017

机译：ASTM血小板和白细胞测定的修饰 - 使用替代和临床相关的抗凝血剂：血液接触医疗装置的体外血液相位性评估
5. I. Energy transfer evidence for in vitro and in vivo complexes of Vibrio harveyi flavin reductase P and luciferase. II. Functional roles of conserved residues in the unstructured loop of Vibrio harveyi bacterial luciferase. [D] . Low, John Cannon. 2002

机译：I.哈维氏弧菌黄素还原酶P和荧光素酶的体外和体内复合物的能量转移证据。二。哈维弧菌荧光素酶无环结构中保守残基的功能作用。
6. Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD) [O] . Mark J. McCabe, Youli Hu, Louise C. Gregory, -1

机译：萤光素酶测定法在三位女性患有视光发育不良（SOD）的KAL1变异体的体外功能评估中的新应用
7. Gaussia Luciferase Variant for High-Throughput Functional Screening Applications [O] . Casey A. Maguire, Nikolaos C. Deliolanis, Lisa Pike, 2009

机译：高斯荧光素酶变体，用于高通量功能筛选应用
8. Female Pubertal Assay of SP 7077 Variant (TS02044) Administered Orally in Juvenile Female Rats [R] . 2004

机译：sp 7077变异体（Ts02044）的青春期雌性大鼠的青春期测定

Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD)

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