Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

The Ras Gene02:38

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...
7.0K
Abnormal Proliferation02:23

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 Circulation01:14

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...
2.4K
Teratogenicity01:07

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 Cascades01:25

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 Diabetes01:20

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,...
3.1K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Association between social vulnerability index and cataract surgery care in medicare beneficiaries: a retrospective cohort study.

BMC ophthalmology·2026
Same author

FABIAN-variant 2026: improved prediction of the effects of DNA variants on transcription factor binding.

Nucleic acids research·2026
Same author

Factors associated with prolonged use of newly prescribed gabapentinoids in older adults undergoing colorectal surgery.

Perioperative medicine (London, England)·2026
Same author

Clinical and primary cell evidence reveals complex CFTR function-phenotype relationships.

bioRxiv : the preprint server for biology·2026
Same author

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

In-depth Human Phenotype Ontology Curation Boosts Prioritization Performance for Netherton Syndrome.

The British journal of dermatology·2026

Related Experiment Video

Updated: Jan 9, 2026

Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development
05:44

Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development

Published on: May 17, 2024

975

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.

Natalie B Gulrajani1, John Boscardin2, Billie R Lianoglou3,4

  • 1School of Medicine, University of California, San Francisco, California, USA.

Prenatal Diagnosis
|December 8, 2025
PubMed
Summary

This study details fetal RASopathy features and their timing during pregnancy, correlating specific genetic variants with distinct phenotypes like contractures and nuchal translucency for better management strategies.

More Related Videos

Author Spotlight: Modeling an Aspect of Preeclampsia in Female Mice Using Hypoxic Human Placenta-Derived Small Extracellular Vesicles
05:31

Author Spotlight: Modeling an Aspect of Preeclampsia in Female Mice Using Hypoxic Human Placenta-Derived Small Extracellular Vesicles

Published on: January 26, 2024

1.2K
Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats
07:36

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats

Published on: November 20, 2015

11.7K

Related Experiment Videos

Last Updated: Jan 9, 2026

Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development
05:44

Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development

Published on: May 17, 2024

975
Author Spotlight: Modeling an Aspect of Preeclampsia in Female Mice Using Hypoxic Human Placenta-Derived Small Extracellular Vesicles
05:31

Author Spotlight: Modeling an Aspect of Preeclampsia in Female Mice Using Hypoxic Human Placenta-Derived Small Extracellular Vesicles

Published on: January 26, 2024

1.2K
Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats
07:36

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats

Published on: November 20, 2015

11.7K

Area of Science:

  • Medical Genetics
  • Fetal Medicine
  • Developmental Biology

Background:

  • RASopathies are a group of genetic disorders affecting development.
  • Fetal RASopathies can present with abnormal fluid collections, indicating severe disease.
  • Understanding fetal RASopathy progression is crucial for prenatal care.

Purpose of the Study:

  • To characterize fetal RASopathy phenotypes throughout gestation.
  • To establish genotype-phenotype correlations in affected pregnancies.
  • To analyze the evolution of fluid collections in fetal RASopathies.

Main Methods:

  • Retrospective cohort study of 46 pregnancies with fetal RASopathy and abnormal fluid collections.
  • Analysis of ultrasound and clinical data from six institutions.
  • Comparison of phenotypic features by gestational age and genetic variants (HRAS, SOS1).

Main Results:

  • Pleural effusions, edema, ascites, and cardiac issues occurred throughout gestation.
  • Cystic hygroma and jugular sacs were early findings, persisting into the second trimester.
  • Contractures were linked to HRAS variants, while increased nuchal translucency/cystic hygroma were associated with SOS1 variants.

Conclusions:

  • Provides insights into genotype-phenotype correlations for fetal RASopathies with fluid collections.
  • Highlights the importance of phenotype timing for future in utero treatment research.
  • Characterizes the natural history of severe fetal RASopathies.