LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

doi:10.1016/j.ajhg.2010.03.004

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

Community

Back to search

Article

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

American journal of human genetics - 14 May 2010

Li Yun, Pawlik Barbara, Elcioglu Nursel, Aglan Mona, Kayserili Hülya, Yigit Gökhan, Percin Ferda, Goodman Frances, Nürnberg Gudrun, Cenani Asim, Urquhart Jill, Chung Boi-Dinh, Ismail Samira, Amr Khalda, Aslanger Ayca D, Becker Christian, Netzer Christian, Scambler Pete, Eyaid Wafaa, Hamamy Hanan, Clayton-Smith Jill, Hennekam Raoul, Nürnberg Peter, Herz Joachim, Temtamy Samia A, Wollnik Bernd

Abstract excerpt

Cenani-Lenz syndrome (CLS) is an autosomal-recessive congenital disorder affecting distal limb development. It is characterized mainly by syndactyly and/or oligodactyly and is now shown to be commonly associated with kidney anomalies. We used a homozygosity-mapping approach to map the CLS1 locus to chromosome 11p11.2-q13.1. By sequencing candidate genes, we identified recessive LRP4 mutations in 12 families with...

Read the complete abstract on PubMed

Topics

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

Share to beta Catenin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney Diseases

Share to LDL-Receptor Related Proteins

Share to Limb Deformities, Congenital

Share to Low Density Lipoprotein Receptor-Related Protein-6

Share to Oncogenes

Share to Receptors, LDL

Share to Syndactyly

Source

Open in PubMed Open full text

Identifiers

PMID: 20381006
DOI: 10.1016/j.ajhg.2010.03.004
PMCID: PMC2869043

Genes

LRP4
LRP6

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

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.PMID 20381006Read ↗

Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.Semantic proximity Read ↗

Severe Cenani-Lenz syndrome caused by loss of LRP4 function.Semantic proximity Read ↗

A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.Semantic proximity Read ↗

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.Semantic proximity Read ↗

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.Semantic proximity Read ↗

A novel APC mutation defines a second locus for Cenani-Lenz syndrome.Semantic proximity Read ↗

Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse.Semantic proximity Read ↗

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.Semantic proximity Read ↗

LRP4 mutations, dental anomalies, and oral exostoses.Semantic proximity Read ↗

Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives.Semantic proximity Read ↗

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.Semantic proximity Read ↗

Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia.Semantic proximity Read ↗

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