Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

28 novel mutations identified from 33 Chinese patients with cilia-related kidney disorders.

Clinica chimica acta; international journal of clinical chemistry - 1 Feb 2020

Liang Nana, Jiang Xuanyu, Zeng Lanlan, Li Zhuo, Liang Desheng, Wu Lingqian

Abstract excerpt

BACKGROUND: Cilia play an important role in cellular signaling pathways. Defective ciliary function causes a variety of disorders involve retina, skeleton, liver, kidney or others. Cilia-related kidney disorders are characterized by cystic renal disease, nephronophthisis and renal failure in general. METHODS: In this study, we collected 33 families clinically suspected of cilia-related kidney disorders....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cytoplasmic Dyneins
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney Diseases, Cystic

Share to Membrane Proteins

Share to Pregnancy

Share to Receptors, Cell Surface

Share to Renal Insufficiency

Share to TRPP Cation Channels

Source

Identifiers

PMID: 31730820
DOI: 10.1016/j.cca.2019.10.040

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

28 novel mutations identified from 33 Chinese patients with cilia-related kidney disorders.PMID 31730820Read ↗

Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review.Semantic proximity Read ↗

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.Semantic proximity Read ↗

Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family.Semantic proximity Read ↗

Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis.Semantic proximity Read ↗

Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.Semantic proximity Read ↗

Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.Semantic proximity Read ↗

Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.Semantic proximity Read ↗

Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.Semantic proximity Read ↗

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.Semantic proximity Read ↗

Early and Severe Polycystic Kidney Disease and Related Ciliopathies: An Emerging Field of InterestSemantic proximity Read ↗

The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney diseaseSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.