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

PKD1 Truncating Mutations Accelerate eGFR Decline in Autosomal Dominant Polycystic Kidney Disease Patients.

American journal of nephrology - 1 Jan 2024

Ali Hamad, Alahmad Barrak, Senum Sarah R, Warsame Samia, Bahbahani Yousif, Abu-Farha Mohamed, Abubaker Jehad, Alqaddoumi Malak, Al-Mulla Fahd, Harris Peter C

Abstract excerpt

INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is a monogenic disease characterized by the accumulation of fluid-filled cysts in the kidneys, leading to renal volume enlargement and progressive kidney function impairment. Disease severity, though, may vary due to allelic and genetic heterogeneity. This study aimed to determine genotype-phenotype correlations between PKD1 truncating and...

Read the complete abstract on PubMed

Topics

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

Share to Disease Progression
Share to PKD1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Glomerular Filtration Rate

Share to Kuwait

Share to Mutation

Share to Polycystic Kidney, Autosomal Dominant

Share to TRPP Cation Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 38194940
DOI: 10.1159/000536165
PMCID: PMC11151966

Genes

PKD1

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

PKD1 Truncating Mutations Accelerate eGFR Decline in Autosomal Dominant Polycystic Kidney Disease Patients.PMID 38194940Read ↗

Autosomal Dominant Polycystic Kidney Disease: Genetic Insights, Phenotypic Spectrum, and Advances in Prognosis and Treatment.Semantic proximity Read ↗

Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.Semantic proximity Read ↗

Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.Semantic proximity Read ↗

Patients with Protein-Truncating PKD1 Mutations and Mild ADPKD.Semantic proximity Read ↗

The genetic landscape of autosomal dominant polycystic kidney disease in KuwaitSemantic proximity Read ↗

Autosomal dominant polycystic kidney disease: recent advances in clinical managementSemantic proximity Read ↗

PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.Semantic proximity Read ↗

A potentially crucial role of the PKD1 C-terminal tail in renal prognosis.Semantic proximity Read ↗

Recent advances in autosomal-dominant polycystic kidney disease.Semantic proximity Read ↗

PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.Semantic proximity Read ↗

The Clinical and Mutational Spectrum of 69 Turkish Children with Autosomal Recessive or Autosomal Dominant Polycystic Kidney Disease: A Multicenter Retrospective Cohort Study.Semantic proximity Read ↗

Assessing the Risk of Progression to Kidney Failure in Patients With Autosomal Dominant Polycystic Kidney Disease.Semantic proximity Read ↗

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