Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Genetic Lingo

Genetic Lingo

Pedigree Analysis

Pedigree Analysis

Lethal Alleles

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

The Retinoblastoma Gene

The Retinoblastoma Gene

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,...

Osteoclasts in Bone Remodeling

Osteoclasts in Bone Remodeling

Osteoclasts are cells responsible for bone resorption and remodeling. They originate from hematopoietic progenitor cells present in the bone marrow. Numerous progenitor cells fuse to form multinucleated cells, each with 10-20 nuclei. A single osteoclast has a diameter of 150 to 200 µM. These cells have ruffled borders that break down the underlying bone tissue and release minerals such as calcium into the blood in bone resorption. Osteoclasts cling to bones with their ruffled edges during bone...

Bone Disorders

Bone Disorders

Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...

You might also read

Related Articles

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

Sort by

Same author

The Study of Drag Reduction on Ships Inspired by Simplified Shark Skin Imitation.

Applied bionics and biomechanics·2018

Same author

Pneumococcal Peritonitis.

The Indian medical gazette·2017

Same author

Bartter's syndrome in Arabic children: review of 13 cases.

Pediatrics international : official journal of the Japan Pediatric Society·1999

Same author

An epidemiologic, clinical, and therapeutic study of childhood Guillain-Barré syndrome in Kuwait: is it related to the oral polio vaccine?

Journal of child neurology·1998

Same author

Rapid diagnosis of bacterial meningitis with reagent strips.

Lancet (London, England)·1995

Same author

Bone marrow examination in childhood idiopathic thrombocytopenic purpura: Is it routinely indicated?

Annals of Saudi medicine·1992

Search research articles

Related Experiment Video

Updated: Jul 27, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Autosomal recessive osteopetrosis in Arab children

Y K Abdel-Al¹, I S Shabani, M M Lubani

¹Department of Paediatrics, Adan Hospital, Kuwait.

Annals of Tropical Paediatrics

|January 1, 1994

Summary

Osteopetrosis in Arab children is often autosomal recessive, presenting with anemia, infections, and neurological issues. High mortality from infection highlights the need for prompt diagnosis and care.

More Related Videos

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis

Published on: December 18, 2019

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Published on: July 3, 2020

Related Experiment Videos

Last Updated: Jul 27, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis

Published on: December 18, 2019

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Published on: July 3, 2020

Area of Science:

Pediatrics
Genetics
Medical Research

Background:

Osteopetrosis is a rare genetic disorder affecting bone resorption.
Understanding its prevalence and clinical features in specific populations is crucial for early diagnosis and management.

Purpose of the Study:

To describe the clinical characteristics, genetic forms, and outcomes of osteopetrosis in Arab children in Kuwait.
To identify common presenting symptoms and associated conditions.

Main Methods:

Retrospective review of 19 Arab children diagnosed with osteopetrosis over a 5-year period.
Analysis of clinical data, including symptoms, genetic subtypes, parental consanguinity, and mortality.

Main Results:

Nineteen children (6 boys, 13 girls) diagnosed with osteopetrosis.
Predominantly autosomal recessive form (18/19 patients).
High parental consanguinity (68%), common symptoms include anemia, hepatosplenomegaly, failure to thrive, infections, and neurological issues. Mortality rate was 37% due to infection.

Conclusions:

Osteopetrosis in this cohort is primarily autosomal recessive with significant morbidity and mortality.
Early detection and comprehensive management are vital for improving outcomes in affected children.