Exploting Zebrafish Models for Fanconi Anemia

探索范可尼贫血的斑马鱼模型

基本信息

批准号：
7918659
负责人：
JOHN H. POSTLETHWAIT
金额：
$ 43.25万
依托单位：
OREGON HEALTH & SCIENCE UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2010
资助国家：
美国
起止时间：
2010-04-01 至 2015-03-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/7918659
关键词：
Acute Myelocytic Leukemia Address Affect Age-Years Anterior Antioxidants Aplastic Anemia Apoptosis Apoptotic BRCA1 gene Biochemistry Blood Blood Cells Bone Marrow Transplantation Cell Cycle Cells Characteristics Chemicals Clinical Complex Congenital Abnormality DNA Damage DNA Repair DNA Sequence DNA biosynthesis Defect Development Disease Double-Stranded RNA Embryo Embryonic Development Exposure to Eye Family Fanconi anemia protein Fanconi&apos s Anemia Frequencies Gene Expression Gene Expression Profile Gene Transfer Techniques Genes Genetic Genetic Screening Genomic Instability Growth Hand Head and neck structure Hematologic Neoplasms Hematopoietic Human Imagery Kidney Knowledge Lead Maps Microcephaly Microphthalmos Modeling Monoubiquitination Morbidity - disease rate Mutation Myeloid Leukemia Normal Cell Nuclear Organ Organogenesis Oxidative Stress Pancytopenia Pathway interactions Patients Pattern Pharmaceutical Preparations Phenotype Physiological Physiology Predisposition Protein Biochemistry Proteins Radial Research S Phase STAT5A gene Skeleton Solid Neoplasm Squamous cell carcinoma Stem cells Therapeutic Thumb structure United States Zebrafish arm base eIF-2 Kinase experience fluoromethyl 2,2-difluoro-1-(trifluoromethyl)vinyl ether high risk human H2AX protein mortality mutant positional cloning repaired reproductive research study response small molecule stem tumorigenic

项目摘要

Fanconi anemia (FA; MIM# 227650) is a rare autosomal recessive disorder appearing at a frequency of one in 100.000 and affecting approximately 2000 families in the United States. FA is characterized by catastrophic bone marrow failure, often by five years of age, and acute myeloid leukemia (AML). In addition to hematopoietic features, Fanconi Anemia is often accompanied by characteristic congenital abnormalities including slow growth, short stature, microcephaly, and microphthalmia [1]. The most common congenital anomaly in FA is an abnormal or missing thumb and radius, but kidney and reproductive organs are also frequently affected [2], although abnormal blood cell development is the main cause of morbidity and mortality [3, 4]. A gap in our knowledge is the mechanism by which FA leads to developmental anomalies in blood, skeleton, eyes, and other organs.

范可尼贫血（FA；MIM# 227650）是一种罕见的常染色体隐性遗传疾病，出现频率为十万分之一，影响美国约 2000 个家庭。 FA 的特点是灾难性骨髓衰竭（通常在五岁时）和急性髓系白血病 (AML)。除了造血功能外，范可尼贫血还常伴有特征性先天异常，包括生长缓慢、身材矮小、小头畸形和小眼畸形[1]。 FA 最常见的先天性异常是拇指和桡骨异常或缺失，但肾脏和生殖器官也经常受到影响 [2]，尽管血细胞发育异常是发病和死亡的主要原因 [3, 4]。我们对 FA 导致血液、骨骼、眼睛和其他器官发育异常的机制存在认识上的空白。