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 Retinoblastoma Gene01:20

The Retinoblastoma Gene

4.9K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.9K
The Parathyroid Glands00:59

The Parathyroid Glands

5.6K
The two pairs of parathyroid glands embedded within the posterior surface of the thyroid gland are restricted by a dense capsule around them. These glands comprise two distinct cell populations—parathyroid oxyphil and parathyroid principal cells- pivotal in calcium homeostasis.
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by...
5.6K
Incomplete Dominance01:43

Incomplete Dominance

32.0K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
32.0K
Allosteric Proteins-ATCase01:19

Allosteric Proteins-ATCase

6.8K
Binding sites linkages can regulate a protein's function.  For example, enzyme activity is often regulated through a feedback mechanism where the end product of the biochemical process serves as an inhibitor.
Aspartate transcarbamoylase (ATCase) is a cytosolic enzyme that catalyzes the condensation of L-aspartate and carbamoyl phosphate to  N-carbamoyl-L-aspartate. This reaction is the first step in pyrimidine biosynthesis. UTP and CTP, the end products of the pyrimidine synthesis...
6.8K
Mutations01:39

Mutations

95.6K
Overview
95.6K
Caspases01:24

Caspases

14.5K
Caspase, a family of cysteine proteases, serve as effectors in apoptosis. The ced3 gene in C.elegans was first identified to be involved in apoptosis. This gene encodes the ced-3 caspase that is similar to the interleukin-1-beta converting enzyme or ICE in mammals. In addition to apoptosis, caspases also function in the inflammatory response. Inflammatory caspases are essential in activating pro-inflammatory cytokines that recruit immune cells and block the replication of pathogens inside...
14.5K

You might also read

Related Articles

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

Sort by
Same author

Second interim analysis of the post-authorisation safety study (PASS) of burosumab in paediatric patients with X-linked hypophosphataemia.

European journal of endocrinology·2026
Same author

Osmotic Demyelination Syndrome and Pituitary Apoplexy Following mRNA COVID-19 Vaccination: A Case Report.

Reports (MDPI)·2026
Same author

Consensus on acromegaly complications: an update.

Pituitary·2026
Same author

Divergent clinical presentations and management of calcium-sensing receptor (CaSR) mutations: a case report.

Journal of medical case reports·2026
Same author

Markers and regulators of osteoblast and osteoclast activity in children with X-linked hypophosphatemia treated with burosumab.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research·2026
Same author

Pituitary adenoma imaging as a determinant of acromegaly diagnosis and outcomes.

The Journal of clinical endocrinology and metabolism·2026

Related Experiment Video

Updated: Mar 14, 2026

Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation
07:13

Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation

Published on: March 14, 2017

15.4K

Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.

Markus Glaudo1, Saskia Letz1, Marcus Quinkler2

  • 1Division of Endocrinology and DiabetesDepartment of Medicine I, Universitätsklinikum Erlangen, Erlangen, Germany.

European Journal of Endocrinology
|September 27, 2016
PubMed
Summary

Heterozygous calcium-sensing receptor (CaSR) mutations can cause neonatal hyperparathyroidism (NHPT) or familial hypocalciuric hypercalcemia (FHH). In vitro CaSR function correlates with in vivo calcium levels, suggesting genetic or environmental factors influence disease severity.

More Related Videos

Generation of Hypoparathyroid Rats via Carbon-Nanoparticle-Assisted Parathyroidectomy
03:57

Generation of Hypoparathyroid Rats via Carbon-Nanoparticle-Assisted Parathyroidectomy

Published on: July 14, 2023

2.4K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

35.0K

Related Experiment Videos

Last Updated: Mar 14, 2026

Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation
07:13

Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation

Published on: March 14, 2017

15.4K
Generation of Hypoparathyroid Rats via Carbon-Nanoparticle-Assisted Parathyroidectomy
03:57

Generation of Hypoparathyroid Rats via Carbon-Nanoparticle-Assisted Parathyroidectomy

Published on: July 14, 2023

2.4K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

35.0K

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Inactivating mutations in the calcium-sensing receptor (CaSR) cause neonatal severe hyperparathyroidism (NSHPT) in homozygous form and familial hypocalciuric hypercalcemia (FHH) in heterozygous form.
  • The clinical spectrum of heterozygous CaSR mutations is broad, ranging from FHH to neonatal hyperparathyroidism (NHPT), with varying serum calcium levels.

Purpose of the Study:

  • To investigate the functional consequences of heterozygous CaSR mutations associated with NHPT compared to those causing FHH.
  • To explore the relationship between in vitro CaSR function, in vivo calcium homeostasis, and clinical presentation in patients with CaSR mutations.

Main Methods:

  • Literature review to identify patients with heterozygous CaSR mutations and NHPT.
  • In vitro analysis of calcium signaling for common NHPT mutants (R185Q, R227L) and FHH mutants, including co-expression with wild-type (wt) CaSR.
  • Correlation of in vitro functional data with patient phenotypes, age of onset, and inheritance patterns.

Main Results:

  • All tested inactivating CaSR mutants impaired calcium signaling, irrespective of clinical phenotype.
  • A strong correlation was observed between in vitro intracellular calcium signaling response at physiologic calcium concentrations and in vivo serum calcium levels.
  • Paternal inheritance alone did not consistently predict NHPT, indicating other factors influence disease manifestation.

Conclusions:

  • In vitro CaSR functional impairment at physiologic calcium levels significantly correlates with the severity of calcium homeostasis alterations in patients.
  • The development of NHPT versus FHH in individuals with heterozygous CaSR mutations likely depends on additional genetic or environmental factors.
  • Personalized therapeutic strategies are recommended for NHPT patients due to the variable clinical presentation.