id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_c2eliqr35fhynpda67fqb2v6gu	Amjad Horani	Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia	2012.0	9	.pdf	application/pdf	6563	659	61	missense mutation was identified in HEATR2, an uncharacterized gene that belongs to a family not previously associated with ciliary Airway epithelial cells isolated from PCD-affected individuals had markedly reduced HEATR2 levels, absent dynein outer dynein arms, reduced flagellar beat frequency, and decreased cell velocity. RNA-mediated knockdown of HEATR2 in airway epithelial cells from unaffected donors. human airway epithelial cells showed that HEATR2 was localized to the cytoplasm and not in cilia, which suggests a role in either dynein both individuals and model organisms and shows that exome sequencing in family studies facilitates the discovery of novel diseasecausing gene mutations. have been identified through sequencing of human homologs of genes discovered by screening for ciliary dysfunction in model organisms, including Chlamydomonas reinhardtii. HEATR2 shRNA-silenced cells (Figure S6). Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia	./cache/work_c2eliqr35fhynpda67fqb2v6gu.pdf	./txt/work_c2eliqr35fhynpda67fqb2v6gu.txt