Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels (Q33559782)

28 July 2017

title

Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels (English)

1 reference

28 July 2017

1 reference

1

1 reference

28 July 2017

2

Laura Almasy

1 reference

28 July 2017

Martin Sikora

7

0 references

Alfonso Buil

object named as

Alfonso Buil

4

0 references

Maria Sabater-Lleal

object named as

Maria Sabater-Lleal

3

0 references

John Blangero

9

object named as

John Blangero

1 reference

28 July 2017

8

Juan Carlos Souto

1 reference

28 July 2017

11

José Manuel Soria

1 reference

28 July 2017

10

Jordi Fontcuberta

1 reference

28 July 2017

Carolina Mordillo

5

1 reference

28 July 2017

Anna Ramírez-Soriano

6

1 reference

28 July 2017

publication date

23 November 2009

1 reference

28 July 2017

published in

Human Molecular Genetics

1 reference

28 July 2017

volume

19

1 reference

28 July 2017

issue

3

1 reference

28 July 2017

page(s)

517-525

1 reference

Evolutionary dynamics of the human ABO gene

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Statistical power analysis of neutrality tests under demographic expansions, contractions and bottlenecks with recombination.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Calibrating a coalescent simulation of human genome sequence variation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

New approaches and future prospects for evaluating genetic risk of thrombosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Initial sequence of the chimpanzee genome and comparison with the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Defective thrombus formation in mice lacking coagulation factor XII

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Population history and natural selection shape patterns of genetic variation in 132 genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

The occasional venous thromboses seen in patients with severe (homozygous) FXII deficiency are probably due to associated risk factors: a study of prevalence in 21 patients and review of the literature

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

A quantitative-trait locus in the human factor XII gene influences both plasma factor XII levels and susceptibility to thrombotic disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Estimate of the mutation rate per nucleotide in humans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Genetic determinants of hemostasis phenotypes in Spanish families.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

DnaSP version 3: an integrated program for molecular population genetics and molecular evolution analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Multipoint quantitative-trait linkage analysis in general pedigrees

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Inferring coalescence times from DNA sequence data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Mitochondrial portraits of human populations using median networks

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Divergence time and population size in the lineage leading to modern humans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Thrombosis or myocardial infarction in congenital clotting factor abnormalities and chronic thrombocytopenias: a report of 21 patients and a review of 50 previously reported cases.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Characterization of human blood coagulation factor XII cDNA. Prediction of the primary structure of factor XII and the tertiary structure of beta-factor XIIa

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

A simple salting out procedure for extracting DNA from human nucleated cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

The molecular basis of blood coagulation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Structural gene encoding human factor XII is located at 5q33-qter.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Role of surface in surface-dependent activation of Hageman factor (blood coagulation Factor XII)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Genetic analyses and expression studies identified a novel mutation (W486C) as a molecular basis of congenital coagulation factor XII deficiency

28 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP517

Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP517

Homozygosity of the T allele of the 46 C->T polymorphism in the F12 gene is a risk factor for ischemic stroke in the Spanish population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP517

Factor XII deficiency: a thrombophilic risk factor for retinal vein occlusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP517

Human F7 sequence is split into three deep clades that are related to FVII plasma levels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP517

Human longevity: the grandmother effect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP517

Exploring positional candidate genes: linkage conditional on measured genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP517

Mapping multiple genes for quantitative or complex traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP517

Minimum-recombinant haplotyping in pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP517

The F7 gene and clotting factor VII levels: dissection of a human quantitative trait locus.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Quantitative trait nucleotide analysis using Bayesian model selection.

31 October 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

31 October 2018

https://api.crossref.org/works/10.1093%2FHMG%2FDDP517

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Association of the factor XII 46C>T polymorphism with risk of coronary heart disease (CHD) in the WOSCOPS study

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Identification and characterization of two novel mutations (Q421 K and R123P) in congenital factor XII deficiency.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Gene regulatory networks generating the phenomena of additivity, dominance and epistasis.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798724

Homozygosity of the T allele of the 46 C-->T polymorphism in the F12 gene is a risk factor for acute coronary artery disease in the Spanish population

31 October 2018

1 reference

12 December 2020

Rebuttal: factor XII levels, factor XII 46 C>T polymorphism and venous thrombosis: a word of caution is needed

1 reference

12 December 2020

Thromboembolism and bleeding tendency in congenital factor XII deficiency--a study on 74 subjects from 14 Swiss families

1 reference

12 December 2020

A common genetic polymorphism (46 C to T substitution) in the 5'-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level

1 reference

12 December 2020

Synergistic association between hypercholesterolemia and the C46T factor XII polymorphism for developing premature myocardial infarction

1 reference

12 December 2020

Homozygosity for the C46T polymorphism of the F12 gene is a risk factor for venous thrombosis during the first pregnancy

1 reference

12 December 2020

Molecular analysis of multiple genetic variants in Spanish FXII-deficient families

1 reference

12 December 2020

Factor XII C46T gene polymorphism and the risk of cerebral venous thrombosis.

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDP517

1 reference

28 July 2017

1 reference

28 July 2017

1 reference