Ontology highlight
ABSTRACT:
SUBMITTER: Horani A
PROVIDER: S-EPMC3484505 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
Horani Amjad A Druley Todd E TE Zariwala Maimoona A MA Patel Anand C AC Levinson Benjamin T BT Van Arendonk Laura G LG Thornton Katherine C KC Giacalone Joe C JC Albee Alison J AJ Wilson Kate S KS Turner Emily H EH Nickerson Deborah A DA Shendure Jay J Bayly Philip V PV Leigh Margaret W MW Knowles Michael R MR Brody Steven L SL Dutcher Susan K SK Ferkol Thomas W TW
American journal of human genetics 20121001 4
Motile cilia are essential components of the mucociliary escalator and are central to respiratory-tract host defenses. Abnormalities in these evolutionarily conserved organelles cause primary ciliary dyskinesia (PCD). Despite recent strides characterizing the ciliome and sensory ciliopathies through exploration of the phenotype-genotype associations in model organisms, the genetic bases of most cases of PCD remain elusive. We identified nine related subjects with PCD from geographically disperse ...[more]