Experiments

Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).

Publications 1.3k Datasets 392.5k Experiments 28

System / cell line: frequency ✕ Assay: carrier ✕ Clear

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

PMID 18977788 · PMC2743849 · The British journal of ophthalmology · 2009 · 7 claims · 5 setups

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ABCA4 carrier-frequency-based prevalence estimates of arSTGD (1:1000 and 1:870) are substantially higher than the previously reported phenotypic prevalence of 1:10,000

healthy spanish arstgd denaturing-hplc abcr400 direct
Population carrier frequency of hMSH2 and hMLH1 mutations.

PMID 11104559 · PMC2363440 · British journal of cancer · 2000 · 6 claims · 6 setups

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Population carrier frequency of hMSH2/hMLH1 mutations in people aged 15-74 years is estimated at 1:3139 (95% CI 1:1247-1:7626)

peripheral scottish finnish baltimore cdna pedigree systematic
Type 1 diabetes in the Spanish population: additional factors to class II HLA-DR3 and -DR4.

PMID 15842729 · PMC1097726 · BMC genomics · 2005 · 7 claims · 4 setups

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The ancestral haplotype AH 18.2 (DR3-TNFa1b5) confers significantly increased T1D risk compared to other DR3-positive haplotypes in the Spanish population.

blood same genotype hla microsatellite haplotype
LRRK2 gene G2019S mutation and SNPs [haplotypes] in subtypes of Parkinson's disease.

PMID 18752982 · PMC2761091 · Parkinsonism & related disorders · 2009 · 8 claims · 4 setups

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LRRK2 G2019S mutation frequency was 1.56% in total PD, higher in familial PD (3.5%) than sporadic PD (0.3%)

genomic genotype mutation taqman association
Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis.

PMID 18414673 · PMC2289874 · PloS one · 2008 · 6 claims · 7 setups

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SPINK1 N34S is strongly associated with chronic pancreatitis overall

chronic alcoholic idiopathic tropical meta-analysis genotyping publication
The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

PMID 17393301 · PMC2137941 · Breast cancer research and treatment · 2008 · 6 claims · 3 setups

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ATM missense variant frequency does not differ significantly between CBC and UBC patients, indicating no major impact on overall CBC risk

germline breast denaturing sanger case-control
New genes, new dilemmas: FTLD genetics and its implications for families.

PMID 18166610 · PMC10846215 · American journal of Alzheimer's disease and other dementias · 2007 · 8 claims · 8 setups

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MAPT and PGRN mutations account for the largest number of familial FTLD cases and differ fundamentally in disease mechanism

familial ftld postmortem ftld-u genetic mutation neuropathological
Molecular epidemiology of DFNB1 deafness in France.

PMID 15070423 · PMC385234 · BMC medical genetics · 2004 · 8 claims · 7 setups

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35delG remains the most common pathogenic GJB2 mutation in the studied French (Languedoc Roussillon) population despite being less frequent than in other Mediterranean populations

gjb2 dried genomic deaf dhplc pcr-mediated pcr-dhplc
A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

PMID 17187665 · PMC1764029 · BMC neurology · 2006 · 6 claims · 4 setups

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The G2385R variant in LRRK2 contributes significantly to the etiology of PD in ethnic Han Chinese individuals

peripheral g2385r patients genotype pcr full clinical
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups

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Mutations in GLE1, an mRNA export mediator, cause LCCS1

lccs1 laahd finnish healthy genomic microsatellite carrier
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

PMID 15287992 · PMC509248 · BMC medical genetics · 2004 · 8 claims · 7 setups

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A CF-causing second mutation (c.3199del6 or the novel c.3395insA) was found in cis with p.I148T in all CF patients in this cohort who carried p.I148T

genomic family chromosomes hela dgge oligonucleotide restriction
Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.

PMID 16539696 · PMC1464093 · BMC medical genetics · 2006 · 7 claims · 6 setups

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Carriers of the 3398delAAAAG BRCA2 mutation share one of two closely related haplotypes (7-3-9-3-[3/4]-7), consistent with a common ancestral origin.

french index unaffected mutation-carrier mutation microsatellite haplotype
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

PMID 18752264 · PMC2577713 · Human mutation · 2008 · 8 claims · 4 setups

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40% (16/40) of WWS families in this diverse cohort received a molecular diagnosis with mutations in POMT1, POMT2, FKRP or FCMD

genomic pomt2 population genome-wide pcr multiplex
Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

PMID 18717728 · PMC7254873 · European journal of neurology · 2008 · 8 claims · 4 setups

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Spatacsin (SPG11) mutations are a frequent cause of complex ARHSP, occurring in 3 of 8 screened families

genomic patients sanger brain clinical
Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?

PMID 18557994 · PMC2481495 · Breast cancer research : BCR · 2008 · 8 claims · 8 setups

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Mutation frequencies in ATM, BRIP1, PALB2 and CHEK2 are many times higher in women with strong breast cancer family history (familial cases) than in population controls.

women familial finnish unselected germline international statistical
Mutation analysis of the AATF gene in breast cancer families.

PMID 20025740 · PMC2806411 · BMC cancer · 2009 · 6 claims · 6 setups

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No AATF sequence alteration identified was predicted to be pathogenic or showed significant association with breast cancer risk

genomic showing aatf case conformation direct pathogenicity
Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.

PMID 16254605 · PMC1270012 · PLoS genetics · 2005 · 8 claims · 6 setups

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Comparative net alignment of human and chimpanzee genome assemblies identifies 1,576 putative inverted regions covering more than 154 Mb of DNA

build chimpanzee unrelated ceph comparative three-color pcr
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

PMID 16405730 · PMC1343542 · BMC medical genetics · 2006 · 8 claims · 4 setups

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Germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma

peripheral genomic ebv-transformed conformation pira-pcr rt-pcr
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.

PMID 18539534 · PMC2832754 · The Lancet. Neurology · 2008 · 8 claims · 7 setups

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LRRK2-associated PD can be distinguished from idiopathic PD by a more benign motor and non-motor phenotype

unrelated patients people homozygous genetic standardized olfaction
Genes influencing coagulation and the risk of aneurysmal subarachnoid hemorrhage, and subsequent complications of secondary cerebral ischemia and rebleeding.

PMID 19826759 · PMC2815293 · Acta neurochirurgica · 2010 · 6 claims · 2 setups

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Carriers of the factor XIII subunit B His95Arg polymorphism have an increased risk of aneurysmal SAH

dutch aneurysmal pcr-based clinical

Experiments

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

Population carrier frequency of hMSH2 and hMLH1 mutations.

Type 1 diabetes in the Spanish population: additional factors to class II HLA-DR3 and -DR4.

LRRK2 gene G2019S mutation and SNPs [haplotypes] in subtypes of Parkinson's disease.

Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis.

The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

New genes, new dilemmas: FTLD genetics and its implications for families.

Molecular epidemiology of DFNB1 deafness in France.

A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?

Mutation analysis of the AATF gene in breast cancer families.

Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.

Genes influencing coagulation and the risk of aneurysmal subarachnoid hemorrhage, and subsequent complications of secondary cerebral ischemia and rebleeding.