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Related Concept Videos

The Parathyroid Glands00:59

The Parathyroid Glands

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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...
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Hormones and Bone Tissue01:17

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The endocrine system produces and secretes hormones, which interact with the skeletal system. These hormones control bone growth, maintain bone once it is formed, and remodel it.
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
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Bone Remodeling01:40

Bone Remodeling

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Bone remodeling is a continuous and balanced process of bone resorption by osteoclasts and bone formation by osteoblasts. In adults, it helps maintain bone mass and calcium homeostasis. While mechanical stress can stimulate turnover as part of the normal maintenance and reparative process, several hormones also regulate bone remodeling.
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Skeleton and Calcium Homeostasis01:21

Skeleton and Calcium Homeostasis

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Calcium is not only the most abundant mineral in bone but also the most abundant mineral in the human body. Calcium ions are needed for bone mineralization, tooth health, heart rate regulation and strength of contraction, blood coagulation, the contraction of smooth and skeletal muscle cells, and the regulation of nerve impulse conduction. The average calcium level in the blood is about 10 mg/dL. When the body cannot maintain this level, a person will experience hypo or hypercalcemia.
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Synthesis and Functions of Calcitonin00:51

Synthesis and Functions of Calcitonin

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Calcitonin, a vital polypeptide hormone, regulates calcium levels within body fluids. It is released by the parafollicular cells, also known as C cells, situated in the follicular epithelium of the thyroid gland. Calcitonin responds to fluctuations in blood calcium levels and the influence of gastrointestinal hormones like gastrin and cholecystokinin.
The exact mechanisms by which calcitonin operates in calcium homeostasis remain elusive, but its significance is evident in several vital...
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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Updated: Nov 13, 2025

Generation of Hypoparathyroid Rats via Carbon-Nanoparticle-Assisted Parathyroidectomy
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Familial Hyperparathyroidism.

Jenny E Blau1,2, William F Simonds2

  • 1Early Clinical Development, Cardiovascular, Renal and Metabolism, BioPharmaceuticals R&D, AstraZeneca, Gaithersburg, MD, United States.

Frontiers in Endocrinology
|March 15, 2021
PubMed
Summary
This summary is machine-generated.

Primary hyperparathyroidism (HPT) involves abnormal parathyroid glands releasing too much parathyroid hormone (PTH), leading to high calcium levels. Genetic studies of familial HPT are key to discovering new genes involved in parathyroid tumor development.

Keywords:
CASRCDC73GCM2MEN1jaw tumor syndromemultiple endocrine neoplasiaoncogenetumor suppressor

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

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Serum calcium homeostasis is tightly regulated by parathyroid glands secreting parathyroid hormone (PTH), vitamin D, and target tissues.
  • Primary hyperparathyroidism (HPT) is a disorder characterized by excessive PTH secretion, leading to elevated serum calcium levels.
  • HPT can be sporadic or familial, with genetic mutations playing a role in parathyroid tumor development.

Purpose of the Study:

  • To investigate the genetic basis of parathyroid tumor development in both sporadic and familial primary hyperparathyroidism.
  • To identify novel genes implicated in the pathogenesis of parathyroid neoplasms.
  • To explore the role of inherited and somatic mutations in proto-oncogenes and tumor suppressor genes in HPT.

Main Methods:

  • Analysis of genomic DNA from patients with sporadic and familial HPT.
  • Investigation of germline variants in known HPT-predisposition genes.
  • Clinical and genetic studies of kindreds with familial HPT lacking identified variants.

Main Results:

  • Loss-of-function mutations in tumor suppressor genes are a common cause of sporadic parathyroid neoplasms.
  • Somatic and inherited mutations in proto-oncogenes can also lead to parathyroid tumors.
  • Familial HPT studies are crucial for uncovering new genes involved in parathyroid tumorigenesis.

Conclusions:

  • Understanding the genetic landscape of HPT is essential for diagnosing and managing this disorder.
  • Further research into familial HPT holds promise for discovering novel genes contributing to parathyroid tumor development.
  • Genetic investigation is a critical tool for advancing the understanding of mineral metabolism disorders and endocrine neoplasms.