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

Combined cis-regulator elements as important mechanism affecting FXII plasma levels.

Thrombosis research - 1 Feb 2010

Sabater-Lleal Maria, Chillón Miguel, Mordillo Carolina, Martínez Angel, Gil Estel, Mateo José, Blangero John, Almasy Laura, Fontcuberta Jordi, Soria José Manuel

Abstract excerpt

INTRODUCTION: Factor XII (FXII) deficiency is a recessive Mendelian trait due to mutations in the F12 gene. There is no bleeding associated with FXII deficiency, but FXII deficiency has been reported to be associated with risk of thrombosis in some studies. MATERIAL AND METHODS: We examined the f...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Cloning, Molecular
Share to Factor XII

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Reporter

Share to Pedigree

Share to Polymorphism, Genetic

Share to Promoter Regions, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 19786295
DOI: 10.1016/j.thromres.2009.08.019
PMCID: PMC2906145

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19786295-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Combined cis-regulator elements as important mechanism affecting FXII plasma levels.PMID 19786295Read ↗

Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels.Semantic proximity Read ↗

Molecular analysis of multiple genetic variants in Spanish FXII-deficient families.Semantic proximity Read ↗

A Novel Homozygous Missense Mutation (Ile583Asn) in a Consanguineous Marriage Family with Hereditary Factor XII Deficiency: A Case Report.Semantic proximity Read ↗

Functional investigation of a venous thromboembolism GWAS signal in a promoter region of coagulation factor XI gene.Semantic proximity Read ↗

Three dominant-negative mutations in factor XI-deficient patients.Semantic proximity Read ↗

Two novel mutations in the human coagulation factor VII promoter.Semantic proximity Read ↗

Lethal factor VII deficiency due to novel mutations in the F7 promoter: functional analysis reveals disruption of HNF4 binding site.Semantic proximity Read ↗

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.Semantic proximity Read ↗

Association after linkage analysis indicates that homozygosity for the 46C-->T polymorphism in the F12 gene is a genetic risk factor for venous thrombosis.Semantic proximity Read ↗

Analysis of a T-287C polymorphism in the tissue factor pathway inhibitor gene and identification of a repressor element in the promoter.Semantic proximity Read ↗

Synergistic association between hypercholesterolemia and the C46T factor XII polymorphism for developing premature myocardial infarction.Semantic proximity Read ↗

Regulatory mechanism of human factor IX gene: protein binding at the Leyden-specific region.Semantic proximity Read ↗

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