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

Paracellin-1 gene mutation with multiple congenital abnormalities.

Pediatric nephrology (Berlin, Germany) - 1 Nov 2006

Türkmen Mehmet, Kasap Belde, Soylu Alper, Böber Ece, Konrad Martin, Kavukçu Salih

Abstract excerpt

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive renal tubular disorder characterized by renal magnesium wasting, hypercalciuria, advanced nephrocalcinosis and progressive renal failure. Mutations in the paracellin-1 (CLDN16) gene have been defined as the underlying genetic defect. The tubular disorders and progression in renal failure are usually resistant to magnesium...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Claudins
Share to Congenital Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gitelman Syndrome

Share to Homozygote

Share to Membrane Proteins

Share to Nephrocalcinosis

Share to Renal Insufficiency

Source

Identifiers

PMID: 16924549
DOI: 10.1007/s00467-006-0247-7

Genes

CLDN16

Variants

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

Paracellin-1 gene mutation with multiple congenital abnormalities.PMID 16924549Read ↗

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family.Semantic proximity Read ↗

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations.Semantic proximity Read ↗

Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study.Semantic proximity Read ↗

Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Family.Semantic proximity Read ↗

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features.Semantic proximity Read ↗

A Novel Mutation in CLDN16 Gene Causing Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis in An Iranian Family.Semantic proximity Read ↗

A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.Semantic proximity Read ↗

A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype.Semantic proximity Read ↗

A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets.Semantic proximity Read ↗

A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings.Semantic proximity Read ↗

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis treated with living-donor kidney transplantation: case report.Semantic proximity Read ↗

Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.Semantic proximity Read ↗

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