Functional dissection of a novel causative gene for Kallmann syndrome
卡尔曼综合征新致病基因的功能解析
基本信息
- 批准号:10583057
- 负责人:
- 金额:$ 16.15万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2023
- 资助国家:美国
- 起止时间:2023-09-12 至 2025-08-31
- 项目状态:未结题
- 来源:
- 关键词:AccountingAnosmiaAreaAxonBMP4Biological AvailabilityBiological ModelsClinicalDelayed PubertyDentalDevelopmentDiagnosisDigit structureDiseaseDissectionDrosophila genusExhibitsFaceFamily memberFemaleGNRH1 geneGenesGeneticGenetic CounselingGenetic DiseasesGenetic HeterogeneityGonadotropin Hormone Releasing HormoneGrowthHomologous GeneHypothalamic structureImpairmentInfertilityInvestigationKallmann SyndromeKidneyKlinefelter&aposs SyndromeLigandsMammalian CellManualsMendelian disorderMolecularMutationNervous SystemNeuronsOlfactory NervePathogenicityPatientsPatternPersonsPhenotypeProtein FamilyPubertyRegulationResearchRoleSignal PathwaySignal TransductionSmell PerceptionStructureSusceptibility GeneSynkinesisVariantWingWorkautosomebone morphogenetic protein receptorscausal variantexome sequencingextracellularhearing impairmenthyposmiaimaginal discinsightloss of function mutationmalemigrationneurotrophic factornovelolfactory bulbpermissivenessprotein functionpsychologicreceptor binding
项目摘要
Project Summary/Abstract
Kallmann syndrome (KS) is a condition characterized by delayed or absent puberty and an impaired sense of
smell. KS results from the deficiency of early development and migration of GnRH-synthesizing neurons and
olfactory nerves. Besides anosmia, there are several other associated non-reproductive features, including
midline facial, dental, and digit anomalies, hearing impairment, bimanual synkinesis, and renal abnormalities.
KS is clinically and genetically heterogeneous and not strictly a monogenic Mendelian disease. There are >25
different causal genes, each accounting for less than 10% of KS cases, that have been identified to date, yet the
genetic basis of the vast majority of KS cases remains unknown. The KS-associated genes either act alone
(monogenic) or in combination (oligogenic). However, the molecular mechanisms that modulate the oligogenic
interactions are far from being elucidated since the exact roles of some susceptibility genes in the regulation of
the GnRH/ olfactory nervous system are yet to be discovered. Therefore, molecular characterization of newly
identified KS causative genes and their associated signaling pathways is crucial for fully determining the genetic
cause of KS.
The current proposal aims to understand how Neuron-Derived Neurotrophic Factor (NDNF), a novel causative
gene for KS, modulates BMP signaling. If successful, the results will provide mechanistic insight underlying KS,
inform genetic counseling of KS, and, in the long run, contribute to a timely diagnosis and treatment to
minimize physical and psychological effects on KS patients.
项目总结/摘要
Kallmann综合征(KS)是一种以青春期延迟或缺失以及青春期感觉受损为特征的疾病。
味道KS是由于GnRH合成神经元的早期发育和迁移缺陷所致,
嗅觉神经除了嗅觉丧失,还有其他一些与生殖无关的特征,包括
中线面部、牙齿和手指异常、听力障碍、双手联带运动和肾脏异常。
KS是临床和遗传异质性,而不是严格的单基因孟德尔疾病。有>25
不同的致病基因,每一个占不到10%的KS案件,已确定的日期,但
绝大多数KS病例的遗传基础仍然未知。KS相关基因要么单独起作用,
(单基因的)或组合(寡基因的)。然而,调节寡基因的分子机制,
相互作用还远未阐明,因为一些易感基因在调节
GnRH/嗅觉神经系统尚未被发现。因此,分子表征的新
确定KS致病基因及其相关的信号通路对于充分确定遗传因素至关重要。
因为KS。
目前的建议旨在了解神经源性神经营养因子(NDNF),一种新的致病因子,
KS基因调节BMP信号传导。如果成功的话,结果将提供潜在的KS机制的见解,
告知KS的遗传咨询,从长远来看,有助于及时诊断和治疗,
最大限度地减少对KS患者的身体和心理影响。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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Xiaoyan Zheng其他文献
Xiaoyan Zheng的其他文献
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{{ truncateString('Xiaoyan Zheng', 18)}}的其他基金
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- 批准号:
10503905 - 财政年份:2022
- 资助金额:
$ 16.15万 - 项目类别:
Linking Hedgehog and Nodal/TGF-beta signaling in the establishment of left-right asymmetry
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- 批准号:
10708839 - 财政年份:2022
- 资助金额:
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Hedgehog-mediated regulation of cell adhesion
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8795099 - 财政年份:2013
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8593407 - 财政年份:2013
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Hedgehog-mediated regulation of cell adhesion
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7962777 - 财政年份:2010
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