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

OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels

29 Oct 2009

Abstract excerpt

3-M syndrome is an autosomal recessive disorder characterized by severe pre- and postnatal growth retardation and minor skeletal changes. We have previously identified CUL7 as a disease-causing gene but we have also provided evidence of genetic heterogeneity in the 3-M syndrome. By homozygosity mapping in two inbred families, we found a second disease locus on chromosome 2q35-36.1 in a 5.2-Mb interval that...

Read the complete abstract on PubMed

Topics

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

Share to Growth Hormone and Insulin-like Growth Factors
Share to PI3K/AKT/mTOR signaling in cancer
Share to Ubiquitin and proteasome pathways

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 19877176
DOI: 10.1002/humu.21150

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levelsPMID 19877176Read ↗

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.Semantic proximity Read ↗

An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families.Semantic proximity Read ↗

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.Semantic proximity Read ↗

Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants.Semantic proximity Read ↗

Identifying biological pathways that underlie primordial short stature using network analysisSemantic proximity Read ↗

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.Semantic proximity Read ↗

Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.Semantic proximity Read ↗

Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.Semantic proximity Read ↗

3-M syndrome: a growth disorder associated with IGF2 silencingSemantic proximity Read ↗

Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.Semantic proximity Read ↗

Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.Semantic proximity Read ↗

Disruption of the Fbxw8 gene results in pre- and postnatal growth retardation in mice.Semantic proximity Read ↗

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