Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome.

Gonzalez Martinez D; Hu Y; Bouloux PM

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Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome.

机译：人的GnRH和嗅觉神经元系统的个体发育：从对Kallmann综合征遗传形式的研究中获得的新见解。

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GnRH embryonic neuronal fate is determined by discreet spatio-temporal expression patterns and interactions of axonal guidance and cell adhesion molecules and extracellular matrix proteins. Expression of several transcription factors, locally derived growth factors and neurotransmitters influence GnRH ontogeny and rostral forebrain specification. In man, disrupted GnRH neuronal ontogeny can be caused by several monogenic disorders leading to isolated hypogonadotrophic hypogonadism (IHH); these include mutations within KAL-1, GnRH-R, and FGFR1. Mutations in KAL-1 and its encoded protein anosmin-1, causes X-linked Kallmann's syndrome (XKS) characterized by IHH, anosmia, synkinesis, and unilateral renal agenesis. Anosmin-1 has an obligate functional interaction with membrane associated heparan sulphate proteoglycans (HSPG) and FGFR-1 (KAL-2) whose mutations lead to the autosomal dominant form of KS (AKS). FGFR1 and anosmin-1 may interact via a HSPG dependent mechanism raising the possibility of interaction between two single gene defects cause similar phenotypic abnormalities.

机译：GnRH胚胎神经元的命运是由谨慎的时空表达模式和轴突指导与细胞粘附分子和细胞外基质蛋白的相互作用决定的。几种转录因子，局部生长因子和神经递质的表达会影响GnRH的个体发育和延髓前脑规格。在人中，GnRH神经元个体发育异常可能是由几种导致单性性腺功能减退性性腺机能减退（IHH）的单基因疾病引起的;这些包括KAL-1，GnRH-R和FGFR1中的突变。 KAL-1及其编码的蛋白ansmin-1的突变会导致X连锁的Kallmann综合征（XKS），其特征为IHH，厌食症，突触和单侧肾发育不良。 Anosmin-1与膜相关的硫酸乙酰肝素蛋白聚糖（HSPG）和FGFR-1（KAL-2）具有专一的功能相互作用，它们的突变导致KS的常染色体显性形式（AKS）。 FGFR1和anosmin-1可能通过HSPG依赖性机制相互作用，从而提高了两个单一基因缺陷之间相互作用的可能性，从而导致相似的表型异常。

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《Frontiers in neuroendocrinology》 |2004年第2期|共23页
作者
Gonzalez Martinez D; Hu Y; Bouloux PM;
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正文语种 eng
中图分类神经病学与精神病学;
关键词
Gonadorelin; Growth; fibroblast growth factor receptor 1; Kallmann Syndrome; 促性腺素释放激素; 生长; 卡尔曼综合征;

机译：Gonadorelin;Growth;fibroblast growth factor receptor 1;Kallmann Syndrome;促性腺素释放激素;生长;卡尔曼综合征;

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1. Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome. [J] . Gonzalez Martinez D, Hu Y, Bouloux PM Frontiers in neuroendocrinology . 2004,第2期

机译：人的GnRH和嗅觉神经元系统的个体发育：从对Kallmann综合征遗传形式的研究中获得的新见解。
2. The terminal nerve plays a prominent role in GnRH-1 neuronal migration independent from proper olfactory and vomeronasal connections to the olfactory bulbs The terminal nerve plays a prominent role in GnRH-1 neuronal migration independent from proper olfactory and vomeronasal connections to the olfactory bulbs The terminal nerve plays a prominent role in GnRH-1 neuronal migration independent from proper olfactory and vomeronasal connections to the olfactory bulbs [J] . Aparna Prasad, Paolo E. Forni, Jennifer M. Lin, Biology Open . 2017,第10期

机译：终末神经在GnRH-1神经元迁移中起着重要作用，而与嗅球的正确嗅觉和犁鼻连接无关。神经在GnRH-1神经元迁移中起着重要作用，而与嗅球的正确嗅觉和犁鼻连接无关
3. The Spatiotemporal Segregation of GAD Forms Defines Distinct GABA Signaling Functions in the Developing Mouse Olfactory System and Provides Novel Insights into the Origin and Migration of GnRH Neurons [J] . Vastagh Csaba, Schwirtlich Marija, Kwakowsky Andrea, Developmental neurobiology . 2015,第3期

机译：GAD形式的时空分离在发育中的小鼠嗅觉系统中定义了不同的GABA信号传导功能，并为GnRH神经元的起源和迁移提供了新颖的见解
4. Using the Projection-based Vehicle in the Loop for the Investigation of in-Vehicle Information Systems: First Insights [C] . Matthias Graichen, Lisa Graichen, Thomas Rottmann, International Conference on Vehicle Technology and Intelligent Transport Systems . 2018

机译：在环路中使用基于投影的车辆进行车载信息系统的研究：第一次见解
5. Kallmann's syndrome: Olfactory and GnRH development. [D] . Wexler, Tamara Lee. 2003

机译：卡曼综合症：嗅觉和GnRH的发展。
6. Profiling Bioinformatic and Functional Data on the Developing Olfactory/GnRH System Reveal Cellular and Molecular Pathways Essential for This Process and Potentially Relevant for the Kallmann Syndrome [O] . Giulia Garaffo, Paolo Provero, Ivan Molineris, 2013

机译：嗅觉/ GnRH系统发育过程中的分析生物信息学和功能数据揭示了该过程必不可少的细胞和分子途径并可能与卡尔曼综合症相关
7. Profiling, bioinformatic and functional data on the developing olfactory/GnRH system reveal cellular and molecular pathways essential for this process and potentially relevant for the Kallmann syndrome. [O] . Giulia Garaffo, Paolo Provero, Ivan Molineris, 2013

机译：嗅觉/ GnRH系统发育过程中的分析，生物信息学和功能数据揭示了该过程必不可少的细胞和分子途径，并可能与Kallmann综合征有关。

Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome.

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