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Related Concept Videos

Pleiotropy01:33

Pleiotropy

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,...
Lethal Alleles02:41

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...
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

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...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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...
Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

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Related Experiment Video

Updated: May 30, 2026

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

Smith-Lemli-Opitz syndrome.

Andrea E DeBarber1, Yasemen Eroglu, Louise S Merkens

  • 1Department of Physiology and Pharmacology, Oregon Health & Science University, Portland, OR, USA.

Expert Reviews in Molecular Medicine
|July 23, 2011
PubMed
Summary
This summary is machine-generated.

Smith-Lemli-Opitz syndrome (SLOS) is a cholesterol deficiency disorder. Further research, including animal and human cell models, is crucial for understanding SLOS pathophysiology and developing effective treatments.

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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

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Last Updated: May 30, 2026

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12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Area of Science:

  • Genetics
  • Biochemistry
  • Developmental Biology

Background:

  • Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by multiple congenital malformations and intellectual disability.
  • SLOS is a cholesterol deficiency syndrome resulting from mutations in the DHCR7 gene.
  • The role of cholesterol deficiency in SLOS pathogenesis, particularly its impact on the sonic hedgehog signaling pathway, is complex and not fully understood.

Purpose of the Study:

  • To highlight the need for improved research models to study SLOS.
  • To emphasize the necessity of developing effective treatments for SLOS.
  • To underscore the importance of advancing the understanding of SLOS pathophysiology.

Main Methods:

  • The abstract discusses the need for better animal models for SLOS research.
  • It highlights the utility of creating human cellular models, particularly brain cell models.
  • The abstract also stresses the essential role of in vivo human studies and biomarker development.

Main Results:

  • Despite significant breakthroughs in understanding the genetic and biochemical basis of SLOS, no proven treatments currently exist.
  • Current understanding of SLOS pathophysiology remains incomplete.
  • Biomarker development is critical for facilitating clinical trials in rare conditions like SLOS.

Conclusions:

  • Further research utilizing advanced animal and human cellular models is essential for SLOS.
  • In vivo human studies and biomarker development are critical for advancing therapeutic strategies.
  • Addressing these research gaps is vital for ameliorating the effects of SLOS.