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

Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome.

International journal of molecular sciences - 31 Jul 2020

Gajek Gabriela, Świerzko Anna S, Cedzyński Maciej

Abstract excerpt

The Malpuech, Michels, Mingarelli, Carnevale (3MC) syndrome is a rare, autosomal recessive genetic- disorder associated with mutations in the MASP1/3, COLEC1,1 or COLEC10 genes. The number of 3MC patients with known mutations in these three genes reported so far remains very small. To date, 16 mutations in MASP-1/3, 12 mutations in COLEC11 and three in COLEC10 associated with 3MC syndrome have been identified....

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 Collectins
Share to Complement system in diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Craniofacial Abnormalities

Share to Developmental Disabilities

Share to Heart Defects, Congenital

Share to Mannose-Binding Protein-Associated Serine Proteases

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 32751929
DOI: 10.3390/ijms21155483
PMCID: PMC7432537

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

Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome.PMID 32751929Read ↗

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.Semantic proximity Read ↗

COLEC10 is mutated in 3MC patients and regulates early craniofacial development.Semantic proximity Read ↗

A novel COLEC10 mutation in a child with 3MC syndrome.Semantic proximity Read ↗

3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.Semantic proximity Read ↗

Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.Semantic proximity Read ↗

Genetic variation of COLEC10 and COLEC11 and association with serum levels of collectin liver 1 (CL-L1) and collectin kidney 1 (CL-K1).Semantic proximity Read ↗

Disease-causing mutations in genes of the complement system.Semantic proximity Read ↗

Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.Semantic proximity Read ↗

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.Semantic proximity Read ↗

Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome.Semantic proximity Read ↗

Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome.Semantic proximity Read ↗

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.Semantic proximity Read ↗

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