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

Glucose Transporters01:27

Glucose Transporters

24.0K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
24.0K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

234
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
234
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

6.0K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
6.0K
Pleiotropy01:33

Pleiotropy

40.9K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.9K

You might also read

Related Articles

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

Sort by
Same author

Initial Low-Dose Dacomitinib for First-Line Treatment of Patients With EGFR Exon 21-Mutated Non-Small-Cell Lung Cancer.

Clinical Medicine Insights. Oncology·2026
Same author

Exosomes derived from menstrual blood-derived mesenchymal stem cells and treadmill training restore motor function following SCI by activating PI3K/Akt pathway.

Stem cell research & therapy·2025
Same author

Investigation and risk factor analysis of anxiety and depression in patients with lower extremity arteriosclerosis obliterans.

World journal of psychiatry·2025
Same author

The combination of immune checkpoint inhibitor and chemotherapy may be efficacious for advanced non-small cell lung cancer with near-loop insertions of <i>EGFR</i> exon 20: A retrospective analysis.

Science progress·2025
Same author

PEARL: A Multicenter Phase 2 Study of Lorlatinib in Patients with ALK-Rearranged NSCLC and Central Nervous System Disease.

Clinical lung cancer·2024
Same author

Tumor immune microenvironment of NSCLC with EGFR exon 20 insertions may predict efficacy of first-line ICI-combined regimen.

Lung cancer (Amsterdam, Netherlands)·2024

Related Experiment Video

Updated: Sep 1, 2025

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.5K

Gitelman syndrome: A case report.

Shi-Yuan Chen1, Ning Jie2

  • 1Department of Endocrinology, Longhua Central Hospital, Shenzhen 518110, Guangdong Province, China.

World Journal of Clinical Cases
|August 18, 2022
PubMed
Summary

Gitelman syndrome, a rare kidney disorder, often presents with hypokalemia and hypomagnesemia. Genetic testing is crucial for accurate diagnosis of this salt-losing tubulopathy.

Area of Science:

  • Nephrology
  • Genetics
  • Internal Medicine

Background:

  • Gitelman syndrome (GS) is an autosomal recessive salt-losing renal tubulopathy.
  • Caused by mutations in the thiazide-sensitive Na-Cl cotransporter gene.
Keywords:
Case reportGenetic testingGitelman syndromeHypocalciuriaHypokalemiaHypomagnesemiaLimb weakness

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
Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
09:02

Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation

Published on: November 26, 2018

21.4K

Related Experiment Videos

Last Updated: Sep 1, 2025

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.5K
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
Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
09:02

Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation

Published on: November 26, 2018

21.4K
  • Often misdiagnosed due to low incidence and awareness.