ArticleBioMed research international2018
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of
Article in BioMed research international, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review.Orphanet journal of rare diseases · 2022Pooled it
- Primary Ciliary Dyskinesia Caused by a Heterozygous Large Deletion in DNAAF11 Accompanied by a Hemizygous Nonsense Variant: A Case Report from Japan.Internal medicine (Tokyo, Japan) · 2026Article
- Defining Functional Correction Thresholds in Primary Ciliary Dyskinesia for Effective Gene Therapies.bioRxiv : the preprint server for biology · 2026Article
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
- The impact of primary ciliary dyskinesia on female and male fertility: a narrative review.Human reproduction update · 2023Review
- Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.Journal of assisted reproduction and genetics · 2023Article
- Article
- Radiomics Model Based on Enhanced Gradient Level Set Segmentation Algorithm to Predict the Prognosis of Endoscopic Treatment of Sinusitis.Computational and mathematical methods in medicine · 2022Article
- The effect of a novel LRRC6 mutation on the flagellar ultrastructure in a primary ciliary dyskinesia patient.Journal of assisted reproduction and genetics · 2021Article
- Identification and functional characterization of a novel surfactant protein A2 mutation (p.N207Y) in a Chinese family with idiopathic pulmonary fibrosis.Molecular genetics & genomic medicine · 2020Article
- Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.Bioscience reports · 2020Article
- Sperm defects in primary ciliary dyskinesia and related causes of male infertility.Cellular and molecular life sciences : CMLS · 2020Review
- Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia.Cells · 2019Review
- A Japanese Case of Primary Ciliary Dyskinesia with DNAH5 Mutations.Internal medicine (Tokyo, Japan) · 2019Article
- Severe disease due to CCDC40 gene variants and the perils of late diagnosis in primary ciliary dyskinesia.BMJ case reports · 2018Article
- Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary ciliary dyskinesia (PCD) is a clinical rare peculiar disorder, mainly featured by respiratory infection, tympanitis, nasosinusitis, and male infertility. Previous study demonstrated it is an autosomal recessive disease and by 2017 almost 40 pathologic genes have been identified. Among them are the leucine-rich repeat- (LRR-) containing 6 (LRRC6) codes for a 463-amino-acid cytoplasmic protein, expressed distinctively in motile cilia cells, including the testis cells and the respiratory epithelial cells. In this study, we applied whole-exome sequencing combined with PCD-known genes filtering to explore the genetic lesion of a PCD patient. A novel compound heterozygous mutation in
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.