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

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

American journal of medical genetics. Part A - 1 Jun 2025

Watson Deborah, Mentch Frank, Billings Jonathan, Ostberg Kayleigh, March Michael E, Kalish Jennifer M, Li Dong, Cannon India, Guay-Woodford Lisa M, Hartung Erum, Strong Alanna

Abstract excerpt

Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%-60% of individuals due to our limited understanding of CyKD. To elucidate the molecular...

Read the complete abstract on PubMed

Topics

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

Share to Cilia
Share to Ciliopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Kidney Diseases, Cystic

Share to Polycystic Kidney, Autosomal Dominant

Share to Polycystic Kidney, Autosomal Recessive

Share to TRPP Cation Channels

Share to Tuberous Sclerosis

Source

Identifiers

PMID: 39888183
DOI: 10.1002/ajmg.a.64011

Genes

PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.PMID 39888183Read ↗

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

Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.Semantic proximity Read ↗

Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.Semantic proximity Read ↗

Genetics of Kidney Disease: The Unexpected Role of Rare Disorders.Semantic proximity Read ↗

Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study.Semantic proximity Read ↗

Diagnosis of monogenic chronic kidney diseasesSemantic proximity Read ↗

Genetic Characterization of Lithuanian Patients With Cystic Kidney.Semantic proximity Read ↗

Baseline Characteristics of the Korean Genetic Cohort of Inherited Cystic Kidney DiseaseSemantic proximity Read ↗

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.Semantic proximity Read ↗

Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.Semantic proximity Read ↗

Genetic kidney diseases.Semantic proximity Read ↗

Diagnostic Utility of Exome Sequencing for Polycystic Kidney DiseaseSemantic proximity Read ↗

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