Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia - Test2 - elhamkhani - TriplyDB

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

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CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation HEATR2 plays a conserved role in assembly of the ciliary motile apparatus Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects Genetic factors contributing to human primary ciliary dyskinesia and male infertility Genetics and biology of primary ciliary dyskinesia CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.Primary ciliary dyskinesia.LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility.Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia Myb permits multilineage airway epithelial cell differentiation.Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.Recent advances in primary ciliary dyskinesia genetics.Diagnosis and management of primary ciliary dyskinesia.Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography.Chlamydomonas axonemal dynein assembly locus ODA8 encodes a conserved flagellar protein needed for cytoplasmic maturation of outer dynein arm complexes Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives.A NIMA-Related Kinase Suppresses the Flagellar Instability Associated with the Loss of Multiple Axonemal Structures.The ciliary inner dynein arm, I1 dynein, is assembled in the cytoplasm and transported by IFT before axonemal docking.RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes Late steps in cytoplasmic maturation of assembly-competent axonemal outer arm dynein in Chlamydomonas require interaction of ODA5 and ODA10 in a complex Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing Primary ciliary dyskinesia and associated sensory ciliopathies Clinical findings and prevalence of the mutation associated with primary ciliary dyskinesia in Old English Sheepdogs.Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.

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Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

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Whole-exome capture and sequen ...... of primary ciliary dyskinesia

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Whole-exome capture and sequen ...... of primary ciliary dyskinesia

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Whole-exome capture and sequen ...... of primary ciliary dyskinesia

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Molecular cloning, expression, and structural prediction of deoxyhypusine hydroxylase: a HEAT-repeat-containing metalloenzyme.

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

Interactive Tree Of Life v2: online annotation and display of phylogenetic trees made easy

A map of human genome variation from population-scale sequencing

eggNOG v3.0: orthologous groups covering 1133 organisms at 41 different taxonomic ranges

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Dynein axonemal assembly factor 5

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