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

Topics Community

Article

KDM2B is implicated in bovine lethal multi-organic developmental dysplasia.

PloS one - 1 Jan 2012

Testoni Stefania, Bartolone Elena, Rossi Marco, Patrignani Andrea, Bruggmann Rémy, Lichtner Peter, Tetens Jens, Gentile Arcangelo, Drögemüller Cord

Abstract excerpt

In the last decade breeders of Romagnola cattle observed an outbreak of a new congenital anomaly. This lethal multi-organ developmental dysplasia is mainly characterized by facial deformities, ascites and hepatic fibrosis. Affected stillborn calves were inbred to a single founder sire suggesting autosomal monogenic recessive inheritance. We localized the causative mutation to a 1.2 Mb interval on BTA 17 by...

Topics

Join the communities discussing this publication.

Cattle
Genetic Diseases, Inborn
Mutation, Missense
Oxidoreductases, N-Demethylating
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

PMID: 23029151
DOI: 10.1371/journal.pone.0045634
PMCID: PMC3459949

Genes

RNF34

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

KDM2B is implicated in bovine lethal multi-organic developmental dysplasia.PMID 23029151Read ↗

A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.Semantic proximity Read ↗

Human phenotype caused by biallelic KDM4B frameshift variant.Semantic proximity Read ↗

A 3.7 Mb deletion encompassing ZEB2 causes a novel polled and multisystemic syndrome in the progeny of a somatic mosaic bull.Semantic proximity Read ↗

In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle.Semantic proximity Read ↗

Identification of a de novo missense variant in the BRI3BP gene in a Holstein calf with congenital cardiac malformation and carpus valgus.Semantic proximity Read ↗

Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species.Semantic proximity Read ↗

A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial Asymmetry.Semantic proximity Read ↗

Beckwith-Wiedemann syndrome and large offspring syndrome involve alterations in methylome, transcriptome, and chromatin configurationSemantic proximity Read ↗

KDM2B-Related Neurodevelopmental Disorder A Case-Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features.Semantic proximity Read ↗

An endogenous retrovirus insertion disrupting bovine <i>ALKBH8</i> causes a failure-to-thrive syndrome with immunodeficiency associated with juvenile mortality in Brown Swiss cattleSemantic proximity Read ↗

A de novo frameshift mutation in ZEB2 causes polledness, abnormal skull shape, small body stature and subfertility in Fleckvieh cattle.Semantic proximity Read ↗

A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog.Semantic proximity Read ↗

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