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

ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases.

Genes - 25 Oct 2024

Almohlesy Lama S, Imtiaz Faiqa, Tulbah Maha, Alhashem Amal, Alhajooj Manar, Alhashem Abdullah, Mabillard Holly, Sayer John A, Alharbi Khalid K, Al-Hamed Mohamed H

Abstract excerpt

BACKGROUND: Nephronophthisis (NPHP) is an autosomal recessive genetic disorder that can cause early-onset kidney failure. ANKS6 plays an important role in early kidney development and encodes a protein that interacts with other proteins within the primary cilium. ANKS6 mutations are known to cause nephronophthisis 16 (NPHP-16). Little is known regarding fetal ultrasound imaging and the antenatal diagnosis of...

Read the complete abstract on PubMed

Topics

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

Share to Carrier Proteins
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Kidney

Share to Mutation, Missense

Share to Polycystic Kidney Diseases

Share to Saudi Arabia

Share to Ultrasonography, Prenatal

Source

Open in PubMed Open full text

Identifiers

PMID: 39596574
DOI: 10.3390/genes15111374
PMCID: PMC11593910

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases.PMID 39596574Read ↗

Biallelic ANKS6 null variants cause notable extrarenal phenotypes in a nephronophthisis patient and lead to hepatobiliary abnormalities by YAP1 deficiency.Semantic proximity Read ↗

Prenatal-Onset Autosomal Dominant Polycystic Kidney Disease: Clinical Spectrum and Genetic Complexity of a Pseudo-Recessive Phenotype.Semantic proximity Read ↗

Clinical and Molecular characteristics of kidney and urinary tract congenital anomalies in a cohort of Egyptian patients using whole-exome sequencing.Semantic proximity Read ↗

Exome analysis links kidney malformations to developmental disorders and reveals causal genes.Semantic proximity Read ↗

Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES).Semantic proximity Read ↗

Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES)Semantic proximity Read ↗

Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.Semantic proximity Read ↗

Exome-wide analysis of congenital kidney anomalies reveals new genes and shared architecture with developmental disordersSemantic proximity Read ↗

Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract.Semantic proximity Read ↗

Whole-genome sequencing reveals contribution of rare and common variation to structural kidney and urinary tract malformationsSemantic proximity Read ↗

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.Semantic proximity Read ↗

Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient.Semantic proximity Read ↗

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