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

A short ultraconserved sequence drives transcription from an alternate FBN1 promoter.

The international journal of biochemistry & cell biology - 1 Jan 2008

Guo Gao, Bauer Sebastian, Hecht Jochen, Schulz Marcel H, Busche Andreas, Robinson Peter N

Abstract excerpt

FBN1, the gene mutated in Marfan syndrome, encodes fibrillin-1, a large glycoprotein component of the extracellular microfibrils. Human FBN1 has three untranslated upstream exons, and homologous sequences can be identified in a number of mammalian species. In this work, we have used functional assays to characterize the FBN1 upstream region. Sequences upstream of exon 1 and at least two of the upstream...

Read the complete abstract on PubMed

Topics

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

Share to Binding Sites
Share to Conserved Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrophoretic Mobility Shift Assay

Share to Fibrillin-1

Share to Fibrillins

Share to Microfilament Proteins

Share to Sequence Homology, Nucleic Acid

Share to Transcription, Genetic

Source

Identifiers

PMID: 17996480
DOI: 10.1016/j.biocel.2007.09.004

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A short ultraconserved sequence drives transcription from an alternate FBN1 promoter.PMID 17996480Read ↗

Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related DisordersSemantic proximity Read ↗

Disruption of FBN1 by an Alu element insertion: A novel genetic cause of Marfan syndrome.Semantic proximity Read ↗

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome.Semantic proximity Read ↗

A FBN1 3′UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndromeSemantic proximity Read ↗

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.Semantic proximity Read ↗

Structure, Chromosomal Localization, and Promoter Analysis of the Human Elastin MicrofibrilInterfase Located proteIN (EMILIN) GeneSemantic proximity Read ↗

Identification of an enhancer and an alternative promoter in the first intron of the alpha-fetoprotein gene.Semantic proximity Read ↗

FBN1 exon 2 splicing error in a patient with Marfan syndrome.Semantic proximity Read ↗

DNA methylation ambiguity in the Fibrillin-1 (FBN1) CpG island shore possibly involved in Marfan syndrome.Semantic proximity Read ↗

Secondary motifs enable concentration-dependent regulation by Rbfox family proteinsSemantic proximity Read ↗

Revised genomic structure of the human MAGP1 gene and identification of alternate transcripts in human and mouse tissues.Semantic proximity Read ↗

Intronic polyadenylation signal sequences and alternate splicing generate human soluble Flt1 variants and regulate the abundance of soluble Flt1 in the placenta.Semantic proximity Read ↗

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