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

6.4K
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...
6.4K
Abnormal Proliferation02:23

Abnormal Proliferation

4.6K
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...
4.6K
The Endocrine System01:29

The Endocrine System

491
The endocrine system is an extensive network of glands – organs or tissues in the body that create chemicals that control many bodily functions, that secrete hormones, which are chemical messengers that play essential roles in regulating various bodily functions. These hormones are secreted into the bloodstream and travel throughout the body. They require specific receptors to convey signals to cells possessing these corresponding receptors. This complex signaling mechanism ensures that...
491
Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

1.1K
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,...
1.1K
Major Hormones and Their Functions01:27

Major Hormones and Their Functions

632
Hormones, the biochemical messengers produced by endocrine glands, are pivotal in regulating bodily functions and maintaining homeostasis. Each hormone's balance is crucial; imbalances can lead to significant physiological disruptions. Major hormones include oxytocin, cortisol, epinephrine, estrogen, testosterone, thyroxine, growth hormone, insulin, and glucagon.
Oxytocin, produced in the hypothalamus and released by the pituitary gland, plays a role in social bonding, childbirth, and...
632
mTOR Signaling and Cancer Progression03:03

mTOR Signaling and Cancer Progression

3.9K
The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
3.9K

You might also read

Related Articles

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

Sort by
Same author

Correction: Understanding the burden of endocrine and metabolic disorders in Prader-Willi syndrome: data from the Italian registry.

Journal of endocrinological investigation·2026
Same author

Understanding the burden of endocrine and metabolic disorders in Prader-Willi syndrome: data from the Italian registry.

Journal of endocrinological investigation·2026
Same author

Incidence and severity of SARS-CoV-2 infection and vaccine BNT162 side effects in children and adolescents with Noonan Syndrome: a national multicentric study.

Frontiers in pediatrics·2026
Same author

Molecular spectrum of autosomal recessive osteogenesis imperfecta in 93 Italian children with bone fragility: a monocentric experience.

Journal of endocrinological investigation·2025
Same author

Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA Guideline.

Journal of intellectual disability research : JIDR·2025
Same author

Treatment With Romosozumab In Progressive Pseudorheumatoid Dysplasia.

JCEM case reports·2025

Related Experiment Video

Updated: Aug 20, 2025

Live Images of GLUT4 Protein Trafficking in Mouse Primary Hypothalamic Neurons Using Deconvolution Microscopy
08:47

Live Images of GLUT4 Protein Trafficking in Mouse Primary Hypothalamic Neurons Using Deconvolution Microscopy

Published on: December 7, 2017

9.8K

Endocrinological manifestations in RASopathies.

Federica Tamburrino1, Emanuela Scarano1, Concetta Schiavariello1

  • 1Rare Diseases Unit, Department of Pediatrics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|November 19, 2022
PubMed
Summary

RASopathies often involve endocrine issues, particularly short stature. Growth hormone therapy can improve height, but optimal use and effects on puberty require further study for better patient care.

Keywords:
Noonan syndromeRASopathiesgrowthgrowth hormone therapypubertythyroid function

More Related Videos

Homogeneous Time-resolved Förster Resonance Energy Transfer-based Assay for Detection of Insulin Secretion
07:30

Homogeneous Time-resolved Förster Resonance Energy Transfer-based Assay for Detection of Insulin Secretion

Published on: May 10, 2018

9.3K
Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model
09:44

Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model

Published on: March 5, 2022

3.0K

Related Experiment Videos

Last Updated: Aug 20, 2025

Live Images of GLUT4 Protein Trafficking in Mouse Primary Hypothalamic Neurons Using Deconvolution Microscopy
08:47

Live Images of GLUT4 Protein Trafficking in Mouse Primary Hypothalamic Neurons Using Deconvolution Microscopy

Published on: December 7, 2017

9.8K
Homogeneous Time-resolved Förster Resonance Energy Transfer-based Assay for Detection of Insulin Secretion
07:30

Homogeneous Time-resolved Förster Resonance Energy Transfer-based Assay for Detection of Insulin Secretion

Published on: May 10, 2018

9.3K
Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model
09:44

Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model

Published on: March 5, 2022

3.0K

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • RASopathies are a group of genetic disorders characterized by significant endocrine abnormalities.
  • Short stature is a common and defining feature in RASopathies, impacting patient quality of life.
  • Endocrine evaluation is crucial for comprehensive management and follow-up of affected individuals.

Purpose of the Study:

  • To review current knowledge regarding endocrine involvement in RASopathies.
  • To discuss the role and optimization of growth hormone therapy for height improvement.
  • To highlight other endocrinological aspects, including puberty, gonadal function, and bone health.

Main Methods:

  • Literature review of existing studies on RASopathies and endocrine manifestations.
  • Analysis of growth patterns and response to growth hormone treatment.
  • Evaluation of data on thyroid, gonadal, and bone health in RASopathy patients.

Main Results:

  • Short stature is a primary concern, influenced by various factors.
  • Growth hormone therapy shows potential for improving final height, but optimal parameters need definition.
  • Puberty disorders, gonadal dysfunction (especially in males), thyroid issues, and bone involvement are frequently observed.

Conclusions:

  • Comprehensive endocrine assessment is vital for managing RASopathies.
  • Further research is needed to refine growth hormone therapy protocols for optimal outcomes.
  • Addressing diverse endocrine dysfunctions is key to improving growth and development in RASopathy patients.