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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,...
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Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
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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...
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
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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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Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
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Introduction: Williams syndrome.

Colleen A Morris1

  • 1cmorris@medicine.nevada.edu

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|April 29, 2010
PubMed
Summary
This summary is machine-generated.

Williams syndrome research has evolved from basic description to genotype-phenotype studies and therapeutic outcomes. This rare genetic disorder offers insights into extracellular matrix, genomics, and the genetic basis of behavior.

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Area of Science:

  • Genetics and Developmental Biology
  • Human Pathology

Background:

  • Williams syndrome, first described in 1961, has been extensively studied over five decades.
  • Initial research focused on syndrome identification and description, evolving to complex investigations.

Discussion:

  • Current research emphasizes genotype-phenotype correlations and pathophysiologic mechanisms in humans and animal models.
  • Studies explore the genetic underpinnings of learning, language, and behavior associated with Williams syndrome.

Key Insights:

  • Williams syndrome research provides crucial insights into extracellular matrix structure and function.
  • It has advanced understanding of genomic structure, rearrangement, and the genetic basis of complex traits.

Outlook:

  • Ongoing research informs current interventions for Williams syndrome.
  • Future therapeutic strategies and areas for further investigation are being identified.