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

The genetics of Fraser syndrome and the blebs mouse mutants

15 Oct 2005

Abstract excerpt

Fraser syndrome is a recessive multisystem disorder characterized by embryonic epidermal blistering, cryptophthalmos, syndactyly, renal defects and a range of other developmental abnormalities. More than 17 years ago, the family of four mapped mouse blebs mutants was proposed as models of this disorder, given their striking phenotypic overlaps. In the last few years, these loci have been cloned, uncovering a...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Ear and Nasal Anomalies
Share to Ocular Disorders and Treatments

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 16244325
DOI: 10.1093/hmg/ddi262

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The genetics of Fraser syndrome and the blebs mouse mutantsPMID 16244325Read ↗

Let's stick together: The role of the Fras1 and Frem proteins in epidermal adhesionSemantic proximity Read ↗

Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.Semantic proximity Read ↗

The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype.Semantic proximity Read ↗

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.Semantic proximity Read ↗

The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis.Semantic proximity Read ↗

The role of Fras1/Frem proteins in the structure and function of basement membrane.Semantic proximity Read ↗

bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1.Semantic proximity Read ↗

<i>Frem2</i> Knockout Mice Exhibit Fraser Syndrome Phenotypes and Neonatal Lethality Due to Bilateral Renal AgenesisSemantic proximity Read ↗

Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.Semantic proximity Read ↗

Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele.Semantic proximity Read ↗

Spatiotemporal distribution of Fras1/Frem proteins during mouse embryonic development.Semantic proximity Read ↗

Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.Semantic proximity Read ↗

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