Molecular Genetics of Congenital Diaphragmatic Hernia
先天性膈疝的分子遗传学
基本信息
- 批准号:7278624
- 负责人:
- 金额:$ 12.98万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2005
- 资助国家:美国
- 起止时间:2005-09-05 至 2010-08-31
- 项目状态:已结题
- 来源:
- 关键词:Abdominal CavityAblationAffectAnimal ModelApoptosisCandidate Disease GeneCaringCell ProliferationChild health careChromosome PositioningChromosome abnormalityChromosomesClinicalCongenital diaphragmatic herniaCytogeneticsDNADataDefectDevelopmentDevelopmental BiologyDiaphragmatic HerniaEmbryoEventG-BandingGenesGeneticGenetic Predisposition to DiseaseGenomeGenotypeGoalsHealth SciencesHereditary DiseaseHumanHuman GeneticsIndividualInfantInvadedLeadLiteratureLocalizedLocationLungMapsMedicalMedicineMethodsMindModelingMolecularMolecular GeneticsMorbidity - disease rateMusMutationNewborn InfantNumbersOutcomePathway interactionsPatientsPatternPhenotypePhysiciansProcessPulmonary HypertensionRaceRangeRattusReportingResearch PersonnelResearch ProposalsResolutionRespiratory DiaphragmRoleSamplingScientistScreening procedureSignal PathwayStandards of Weights and MeasuresStructureTechnologyTest ResultTexasTherapeuticTimeTissue SampleTissuesTrainingTranscription factor genesTretinoinUniversitiesWT1 geneapoAI regulatory protein-1basecollegecomparative genomic hybridizationgenome-wide analysishuman studyinsightmortalitymouse modelnerve supplynew technologynovelprogramsrepositorysexspatiotemporaltranscription factor
项目摘要
DESCRIPTION (provided by applicant): The applkicant is a senior clinical genetics fellow who has completed his clinical training. His long-term objective is to become an independent physician scientist focused on studying genetic disorders that impact the health of children. This application will provide the candidate with training in developmental biology, new technologies in human genetics, and mouse genetics. The overall scientific goal is to identify and characterize genes responsible for congenital diaphragmatic hernia (CDH). CDH is a developmental abnormality in which regions of the diaphragm fail to form, allowing the contents of the abdominal cavity to invade the space normally reserved for the developing lung. CDH affects approximately 1 in 2,500 newborns. Mortality ranges from 30 to 60%, and infants who survive often have significant morbidity from pulmonary hypoplasia and pulmonary hypertension. Specific aims for this study include: 1) establishing a collaborative DNA repository for the study of CDH, 2) screening candidate genes for CDH-causing mutations, 3) identifying and mapping chromosomal regions involved in CDH using novel comparative genomic hybridization (CGH) technology, and 4) characterizing a mouse model of CDH. Candidate genes, selected based on chromosome position and putative function, will be screened for CDH-causing mutation by direct sequencing. DNA from individuals with CHD will be screened for abnormalities by G-banded chromosome analysis and CGH using a genome-wide microarray of over 20,000 overlapping clones with a approximately 300 kb resolution. A CDH mouse model that mimics the most common form of CDH in human has been developed by selective ablation of COUP-TFII, a gene for transcription factor regulated by the retinoic acid pathway. The candidate will characterize these mice by determining the effect of COUP-TFII ablation on diaphragm musculature, innervation, cellular proliferation, as well as apoptosis. Identifying and characterizing the genes that cause CDH may lead to the development of new preventative and therapeutic strategies, and will provide insight into the molecular basis of diaphragm development.
描述(由申请人提供):申请人是一名已完成临床培训的高级临床遗传学研究员。 他的长期目标是成为一名独立的医生科学家,专注于研究影响儿童健康的遗传疾病。 该申请将为候选人提供发育生物学,人类遗传学新技术和小鼠遗传学方面的培训。 总体科学目标是确定和表征先天性腹股沟疝(CDH)的基因。 CDH是一种发育异常,其中隔膜区域无法形成,从而允许腹腔内容物侵入通常为发育中的肺保留的空间。 CDH影响大约1/2,500的新生儿。 死亡率为30%至60%,存活的婴儿通常有肺发育不全和肺动脉高压的显著发病率。 本研究的具体目标包括:1)建立一个合作的DNA库研究CDH,2)筛选候选基因的CDH引起的突变,3)确定和定位染色体区域涉及CDH使用新的比较基因组杂交(CGH)技术,和4)表征小鼠模型的CDH。 基于染色体位置和推定功能选择的候选基因将通过直接测序筛选引起CDH的突变。 将通过G带染色体分析和CGH,使用分辨率约为300 kb的超过20,000个重叠克隆的全基因组微阵列,对CHD个体的DNA进行异常筛查。 通过选择性切除COUP-TFII(一种由视黄酸途径调控的转录因子基因),开发了一种模拟人类最常见CDH形式的CDH小鼠模型。 候选人将通过确定COUP-TFII消融对膈肌肌肉组织、神经支配、细胞增殖以及细胞凋亡的影响来表征这些小鼠。 识别和表征导致CDH的基因可能会导致新的预防和治疗策略的发展,并将提供对膈肌发育的分子基础的深入了解。
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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Daryl Armstrong Scott其他文献
Haploinsufficiency of emZFHX3/em, encoding a key player in neuronal development, causes syndromic intellectual disability
编码神经元发育关键因子的 emZFHX3/em 基因单倍体不足会导致综合征性智力障碍
- DOI:
10.1016/j.ajhg.2024.01.013 - 发表时间:
2024-03-07 - 期刊:
- 影响因子:8.100
- 作者:
María del Rocío Pérez Baca;Eva Z. Jacobs;Lies Vantomme;Pontus Leblanc;Elke Bogaert;Annelies Dheedene;Laurenz De Cock;Sadegheh Haghshenas;Aidin Foroutan;Michael A. Levy;Jennifer Kerkhof;Haley McConkey;Chun-An Chen;Nurit Assia Batzir;Xia Wang;María Palomares;Marieke Carels;Pankaj Agrawal;Daryl Armstrong Scott;Elizabeth Barkoudah;Bert Callewaert - 通讯作者:
Bert Callewaert
Daryl Armstrong Scott的其他文献
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{{ truncateString('Daryl Armstrong Scott', 18)}}的其他基金
Mechanisms of Abnormal Diaphragm and Cardiac Development
膈肌异常和心脏发育的机制
- 批准号:
10404417 - 财政年份:2021
- 资助金额:
$ 12.98万 - 项目类别:
Mechanisms of Abnormal Diaphragm and Cardiac Development
膈肌异常和心脏发育的机制
- 批准号:
10613958 - 财政年份:2020
- 资助金额:
$ 12.98万 - 项目类别:
Mechanisms of Abnormal Diaphragm and Cardiac Development
膈肌异常和心脏发育的机制
- 批准号:
10402379 - 财政年份:2020
- 资助金额:
$ 12.98万 - 项目类别:
Mechanisms of Abnormal Diaphragm and Cardiac Development
膈肌异常和心脏发育的机制
- 批准号:
10201699 - 财政年份:2020
- 资助金额:
$ 12.98万 - 项目类别:
The Role of RERE in Congenital Cardiac Anomalies
RERE 在先天性心脏异常中的作用
- 批准号:
8769407 - 财政年份:2014
- 资助金额:
$ 12.98万 - 项目类别:
Retinoid-Related Genes in Diaphragm and Cardiac Development
膈肌和心脏发育中的类维生素A相关基因
- 批准号:
7860177 - 财政年份:2010
- 资助金额:
$ 12.98万 - 项目类别:
Retinoid-Related Genes in Diaphragm and Cardiac Development
膈肌和心脏发育中的类维生素A相关基因
- 批准号:
8044039 - 财政年份:2010
- 资助金额:
$ 12.98万 - 项目类别:
Retinoid-Related Genes in Diaphragm and Cardiac Development
膈肌和心脏发育中的类维生素A相关基因
- 批准号:
8440700 - 财政年份:2010
- 资助金额:
$ 12.98万 - 项目类别:
Retinoid-Related Genes in Diaphragm and Cardiac Development
膈肌和心脏发育中的类维生素A相关基因
- 批准号:
8233924 - 财政年份:2010
- 资助金额:
$ 12.98万 - 项目类别:
Molecular Genetics of Congenital Diaphragmatic Hernia
先天性膈疝的分子遗传学
- 批准号:
7118153 - 财政年份:2005
- 资助金额:
$ 12.98万 - 项目类别:
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