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Microtubules in Signaling01:22

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The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
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Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
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Cranioectodermal dysplasia: a probable ciliopathy.

Anastasia E Konstantinidou1, Helen Fryssira, Stavros Sifakis

  • 1Department of Pathology, National Kapodistrian University Medical School, Athens, Greece. ankon@med.uoa.gr

American Journal of Medical Genetics. Part A
|September 18, 2009
PubMed
Summary
This summary is machine-generated.

Cranioectodermal dysplasia (CED), a rare genetic disorder, presents with skeletal and ectodermal issues, often leading to kidney failure. New familial cases suggest CED may be linked to ciliopathies, expanding our understanding of these genetic conditions.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Nephrology

Background:

  • Cranioectodermal dysplasia (CED), or Sensenbrenner syndrome, is a rare autosomal recessive disorder.
  • It is characterized by craniofacial, skeletal, and ectodermal defects, alongside tubulointerstitial nephritis causing renal failure.

Observation:

  • A familial case involving a 9-year-old patient and two fetuses is presented.
  • The patient exhibited hypohidrosis, an additional ectodermal finding.
  • Fetal postmortem findings included acromesomelic shortening, craniofacial anomalies, renal cysts, and liver and adrenal abnormalities.

Findings:

  • Renal cysts, persistent ductal plate with portal fibrosis, and posterior fossa anomalies were noted.
  • Histopathology showed microscopic renal cysts and portal fibrosis.
  • The physeal growth plate was largely unremarkable.

Implications:

  • These findings suggest Cranioectodermal dysplasia (CED) may be a ciliopathy.
  • This expands the known spectrum of genetic disorders linked to ciliopathies.
  • Further research into CED's molecular origin is warranted.