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Article

Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus.

Clinical nephrology - 1 Feb 2008

Okada M, Sugimoto K, Shimada Y, Fujita S, Yanagida H, Yagi K, Takemura T

Abstract excerpt

Cystic kidney disease has been linked to mutations in the Invs gene in mice with an inversion of embryonic turning (inv/inv) and the INVS (NPHP2) gene in human infantile nephronophthisis (NPH). Infantile NPH shows marked cyst formation in contrast to other forms of NPH and rapidly progresses to e...

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Source

Identifiers

PMID: 18218308
DOI: 10.5414/cnp69135

Genes

INVS
NPHP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18218308-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 9 closest

Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus.PMID 18218308Read ↗

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

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

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

Renal cysts of inv/inv mice resemble early infantile nephronophthisis.Semantic proximity Read ↗

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.Semantic proximity Read ↗

Novel splice site and nonsense variants in INVS cause infantile nephronophthisis.Semantic proximity Read ↗

ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning.Semantic proximity Read ↗

Cardiopulmonary malformations in the inv/inv mouse.Semantic proximity Read ↗

Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty.Semantic proximity Read ↗

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