Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient

The time is right for an international primary ciliary dyskinesia disease registry

(2017) Kenan Haver   EUROPEAN RESPIRATORY JOURNAL

Kartagener syndrome

(2017) W.-J. Chang et al.   QJM-AN INTERNATIONAL JOURNAL OF MEDICINE

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

(2017) Chiara Olcese et al.   Nature Communications

Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies

(2017) Virginia Mirra et al.   Frontiers in Pediatrics

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

(2017) Ting Guo et al.   Scientific Reports

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization

(2016) Julia Wallmeier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

(2016) Elma El Khouri et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Transport of the outer dynein arm complex to cilia requires a cytoplasmic protein Lrrc6

(2016) Yasuko Inaba et al.   GENES TO CELLS

Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia

(2016) Justine Frija-Masson et al.   THORAX

Mutations in the Motile Cilia Gene DNAAF1 are Associated with Neural Tube Defects in Humans

(2016) C. Miao et al.   G3-Genes Genomes Genetics

Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype

(2015) Stephanie D. Davis et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita

(2015) Hongzhuo Li et al.   EUROPEAN SPINE JOURNAL

An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia

(2015) Jana Djakow et al.   PEDIATRIC PULMONOLOGY

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia

(2014) Johanna Raidt et al.   EUROPEAN RESPIRATORY JOURNAL

Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

(2013) Daniel J. Moore et al.   AMERICAN JOURNAL OF HUMAN GENETICS

LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects

(2013) Amjad Horani et al.   PLoS One

Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility

(2013) L. Zhao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

(2012) Esther Kott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing identifiesUPF3Bas the causative gene for a Chinese non-syndrome mental retardation pedigree

(2012) X Xu et al.   CLINICAL GENETICS

Screening for the Carbonic Anhydrase IV Gene Mutations in Chinese Retinitis Pigmentosa Patients

(2010) Yu Tian et al.   CURRENT EYE RESEARCH

The relationship between the TGF-β1 gene −509C/T polymorphism and tubulointerstitial damage resulting from primary nephrotic syndrome

(2010) Y. Li et al.   RENAL FAILURE