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

Novel splice site and nonsense variants in INVS cause infantile nephronophthisis.

Gene - 1 Mar 2020

Somashekar Puneeth H, Upadhyai Priyanka, Shukla Anju, Girisha Katta M

Abstract excerpt

Nephronophthisis is an autosomal recessive disease characterized by cystic kidney disease with progression to end-stage kidney disease in children and adolescents with or without extra-renal involvement. It is caused by biallelic pathogenic variants in 19 genes including INVS that encodes a ciliary protein essential for renal development and left-right axis establishment. We report a child with bilateral...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Codon, Nonsense
Share to Gene Frequency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Kidney Diseases, Cystic

Share to RNA Splice Sites

Share to RNA Splicing

Share to Transcription Factors

Source

Identifiers

PMID: 31706999
DOI: 10.1016/j.gene.2019.144229

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

Novel splice site and nonsense variants in INVS cause infantile nephronophthisis.PMID 31706999Read ↗

Early presentation of cystic kidneys in a family with a homozygous INVS mutation.Semantic proximity Read ↗

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

ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases.Semantic proximity Read ↗

A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder.Semantic proximity Read ↗

NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination.Semantic proximity Read ↗

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.Semantic proximity Read ↗

Expanding the phenotype of biallelic loss-of-function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications.Semantic proximity Read ↗

Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure.Semantic proximity Read ↗

Retinitis pigmentosa and renal failure in a patient with mutations in INVS.Semantic proximity Read ↗

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.Semantic proximity Read ↗

ACAN biallelic variants in a girl with severe idiopathic short stature.Semantic proximity Read ↗

NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?Semantic proximity Read ↗

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