在有异常胎儿液体收集的怀孕中,RASopathies的发展特征
Natalie B Gulrajani1, John Boscardin2, Billie R Lianoglou3,4
1School of Medicine, University of California, San Francisco, California, USA.
Prenatal diagnosis
|December 8, 2025
概括
这项研究详细介绍了胎儿RASopathy特征及其在怀孕期间的时间,将特定的遗传变异与不同的表型相关联,如合和部半透明性,以获得更好的管理策略.
科学领域:
- 医学遗传学 医学遗传学
- 胎儿医学 胎儿医学
- 发育生物学 发展生物学
背景情况:
- 拉索病是一组影响发育的遗传性疾病.
- 胎儿RAS病症可以呈现异常的液体积聚,表明严重的疾病.
- 了解胎儿RAS病变的进展对于产前护理至关重要.
研究的目的:
- 在整个妊娠期内表征胎儿RASopathy表型.
- 在受影响的怀孕中建立基因型-表型相关性.
- 为了分析胎儿RAS病症中液体收集的演变.
主要方法:
- 追溯的队列研究46个怀孕的胎儿RASopathy和异常的液体收集.
- 分析了来自六所机构的超声波和临床数据.
- 根据妊娠年龄和遗传变异 (HRAS,SOS1) 进行表型特征的比较.
主要成果:
- 在整个妊娠期间发生了多流液,,,心脏问题.
- 囊性湿瘤和状囊是早期发现,持续到第二个三个月.
- 收缩与HRAS变体有关,而增加的额头半透明度/囊性湿瘤与SOS1变体有关.
结论:
- 提供了关于胎儿RASopathies与液体收集的基因型-表型相关性的见解.
- 强调表型定时对于未来子宫内治疗研究的重要性.
- 描述了严重胎儿RAS病变的自然史.
更多相关视频
05:31Author Spotlight: Modeling an Aspect of Preeclampsia in Female Mice Using Hypoxic Human Placenta-Derived Small Extracellular Vesicles
Published on: January 26, 2024
1.2K
07:36Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats
Published on: November 20, 2015
11.7K
相关概念视频
The Ras Gene
7.0K
The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
Ras is a...
7.0K
Abnormal Proliferation
5.1K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
5.1K
Fetal Circulation
2.4K
Fetal circulation is a unique system that facilitates the exchange of gases, nutrients, and waste products between the developing fetus and the mother. This intricate process takes place through a special organ called the placenta.
Two umbilical arteries transport blood from the fetus to the placenta. At the placenta, the blood absorbs oxygen and nutrients while simultaneously eliminating waste products. This oxygen-enriched and nutrient-rich blood then returns to the fetus through one...
Two umbilical arteries transport blood from the fetus to the placenta. At the placenta, the blood absorbs oxygen and nutrients while simultaneously eliminating waste products. This oxygen-enriched and nutrient-rich blood then returns to the fetus through one...
2.4K
Teratogenicity
3.9K
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
3.9K
Rab Cascades
3.4K
Rab GTPases act in a regulated cascade during membrane fusion, helping the lipid bilayers mix. The Rab family of proteins are active when bound to GTP, and inactive when bound to GDP. Hence, they act as guanine nucleotide-dependent molecular switches. Rab-GTP recognizes and binds to long or short-range tethering proteins to capture the target vesicle. These tethers coordinate with SNAREs on the vesicle and the target membrane to assemble the trans SNARE complex that locks the mixing bilayers.
3.4K
Pathophysiology of Diabetes
3.1K
Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
3.1K
