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

Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

78
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
78
Mutations01:39

Mutations

84.2K
Overview
84.2K
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

352
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
352
Chronic Kidney Disease I: Introduction01:25

Chronic Kidney Disease I: Introduction

64
Chronic Kidney Disease (CKD) arises when the kidneys progressively lose their ability to function, ultimately leading to end-stage renal disease. At this advanced stage, the kidneys can no longer filter waste or maintain essential body functions, requiring renal replacement therapy (RRT) through dialysis or a kidney transplant for survival.Early-stage chronic kidney disease and detection challengesIn CKD's early stages, symptoms often remain absent because healthy nephrons compensate for...
64
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

3.9K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.9K
ATP Synthase: Structure01:18

ATP Synthase: Structure

13.0K
ATP synthase or ATPase is among the most conserved proteins found in bacteria, mammals, and plants. This enzyme can catalyze a forward reaction in response to the electrochemical gradient, producing ATP from ADP and inorganic phosphate. ATP synthase can also work in a reverse direction by hydrolyzing ATP and generating an electrochemical gradient. Different forms of ATP synthases have evolved special features to meet the specific demands of the cell. Based on their specific feature, ATP...
13.0K

You might also read

Related Articles

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

Sort by
Same author

Discordantly Low HbA1c in Patients Receiving Dapsone: Prevalence and Associations with Hemolysis and Methemoglobinemia.

International journal of endocrinology and metabolism·2026
Same author

Approach to Renal Tubular Acidosis - A Review.

Indian journal of endocrinology and metabolism·2026
Same author

Men with chronic traumatic brain injury have lower bone density at cortical sites and altered hip geometric indices as compared to able-bodied peers: A case-control study from India.

Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry·2026
Same author

Atypical diabetes subtypes in Black African populations.

Diabetologia·2026
Same author

Osteosclerotic Bone Disease Due to Skeletal Fluorosis in a Father-Son Pair.

AACE endocrinology and diabetes·2026
Same author

Bone Health Assessment and Management among Survivors of Non-metastatic Breast Cancer: A Narrative Review.

Indian journal of endocrinology and metabolism·2026
Same journal

Efficacy and safety of propylthiouracil protocols: high-dose monotherapy vs combination of low-dose with iodine.

Journal of the Endocrine Society·2026
Same journal

Correction to: "Diazoxide Choline Extended-Release (DCCR) Use in Prader-Willi Syndrome: Patient Selection, Dosing, and Management".

Journal of the Endocrine Society·2026
Same journal

Placental abundances of IGF1, IGF2, IGFBP2, IGF2R, and PPARα are associated with birth weight.

Journal of the Endocrine Society·2026
Same journal

Correction to: "Disparities in Thyroid Cancer Diagnosis Based on Residence and Distance From Medical Facility".

Journal of the Endocrine Society·2026
Same journal

Model-based somapacitan dosing and IGF-I response in children born SGA or with ISS, Noonan or Turner syndromes.

Journal of the Endocrine Society·2026
Same journal

Integrated mapping resolves pathogenicity of 11 <i>CYP21A2</i> variants in congenital adrenal hyperplasia.

Journal of the Endocrine Society·2026
See all related articles

Related Experiment Video

Updated: Sep 4, 2025

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

33.9K

Cathepsin K Mutation-A Subtle Clinical Presentation.

Venkata Sandeep Nandipati1, Aaron Chapla1, Felix K Jebasingh1

  • 1Department of Endocrinology, Diabetes and Metabolism, Christian Medical College Vellore, India.

Journal of the Endocrine Society
|July 20, 2022
PubMed
Summary
This summary is machine-generated.

Pyknodysostosis, a rare inherited bone disorder, causes fractures and short stature. Genetic testing identified a novel cathepsin K gene variant, confirming the diagnosis in an adult patient with subtle symptoms.

Area of Science:

  • Genetics
  • Bone Metabolism
  • Rare Diseases

Background:

  • Pyknodysostosis is an uncommon inherited disorder characterized by osteosclerosis, short stature, dysmorphic features, and early-onset fragility fractures.
Keywords:
acro-osteolysiscathepsin K genenext-generation sequencingosteosclerosispyknodysostosis

More Related Videos

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
12:49

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

Published on: September 4, 2011

14.1K
Exploring Caspase Mutations and Post-Translational Modification by Molecular Modeling Approaches
05:56

Exploring Caspase Mutations and Post-Translational Modification by Molecular Modeling Approaches

Published on: October 13, 2022

1.4K

Related Experiment Videos

Last Updated: Sep 4, 2025

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

33.9K
Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
12:49

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

Published on: September 4, 2011

14.1K
Exploring Caspase Mutations and Post-Translational Modification by Molecular Modeling Approaches
05:56

Exploring Caspase Mutations and Post-Translational Modification by Molecular Modeling Approaches

Published on: October 13, 2022

1.4K
  • Consanguinity is often associated with this condition.