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 87

System / cell line: testing ✕ Assay: mutation ✕ Clear

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
Social and ethical implications of genomics, race, ethnicity, and health inequities.

PMID 19000599 · PMC2892396 · Seminars in oncology nursing · 2008 · 8 claims · 5 setups

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Race and ethnicity are increasingly viewed as genetic surrogates for predicting disease risk and treatment response, though directly assessing genomic and environmental factors is more accurate.

population prostate non-small-cell breast genome-wide gene somatic
Advances in breast cancer: pathways to personalized medicine.

PMID 19088015 · PMC4535810 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 8 claims · 8 setups

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Germline BRCA1/BRCA2 mutations are strong predictors of breast and ovarian cancer, conferring a 40-80% lifetime risk of breast cancer

population-based women breast high-risk germline genome-wide microarray
Clinical and genotypic findings in HIV-infected patients with the K65R mutation failing first-line antiretroviral therapy in Nigeria.

PMID 19644383 · PMC2815152 · Journal of acquired immune deficiency syndromes (1999) · 2009 · 8 claims · 3 setups

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K65R mutation is present in a substantial proportion (10.9%) of Nigerian patients failing first-line ART, including many with no prior tenofovir exposure

plasma k65r-positive hiv-1 comparative clinical
Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.

PMID 14970868 · PMC2410159 · British journal of cancer · 2004 · 7 claims · 5 setups

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A large fraction of high-risk individuals in mutation-positive HNPCC families does not undergo genetic testing despite its benefits.

colorectal formalin-fixed germline first-degree microsatellite immunohistochemistry mutation
Evaluation of models to predict BRCA germline mutations.

PMID 17016486 · PMC2360540 · British journal of cancer · 2006 · 7 claims · 7 setups

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Four commonly used BRCA risk prediction models (BRCAPRO, Manchester, Penn, Myriad-Frank) have only modest ability to rule in or rule out BRCA1/2 germline mutation carrier status at a 10% probability threshold.

proband pedigrees randomly brca1 brcapro manchester
Patents and translational research in genomics.

PMID 17621295 · PMC1955681 · Nature biotechnology · 2007 · 8 claims · 2 setups

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Gene patents can impede the use of genes for research, diagnosis and treatment, thereby hindering translational genomics research

publicly mutation patent
Resistance to thyroid hormone with missense mutation (V349M) in the thyroid hormone receptor beta gene.

PMID 18363280 · PMC2686955 · The Korean journal of internal medicine · 2008 · 8 claims · 7 setups

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The patient's resistance to thyroid hormone (RTH) was caused by a novel missense mutation (V349M, c.1045G>A) in exon 11 of the TRβ gene, the first such case reported in Korea.

serum pituitary-thyroid thyroid sellar thyroid trh magnetic
Numbers of mutations to different types of colorectal cancer.

PMID 16202134 · PMC1266026 · BMC cancer · 2005 · 8 claims · 5 setups

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Different biologic subtypes of colorectal cancer require different numbers of oncogenic mutations before transformation

colorectal germline finnish seer microsatellite germline bayesian
Variation in breast cancer risk in BRCA1 and BRCA2 mutation carriers.

PMID 18710587 · PMC2575529 · Breast cancer research : BCR · 2008 · 8 claims · 4 setups

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Lifetime breast cancer risk estimates in BRCA1/2 mutation carriers vary widely (roughly 40% to >80%) depending on the study population and ascertainment method

women first-degree brca2 families population-based standardized combined
Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.

PMID 15528792 · PMC3839397 · Disease markers · 2004 · 8 claims · 4 setups

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The ICG-HNPCC/INSiGHT mutation database has grown from 126 predisposing mutations (1997) to 448 mutations occurring in 748 families (2003 update)

hnpcc tumor yeast families germline microsatellite functional
CHEK2 variants associate with hereditary prostate cancer.

PMID 14612911 · PMC2394451 · British journal of cancer · 2003 · 8 claims · 6 setups

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CHEK2 1100delC frameshift mutation is significantly more frequent in Finnish HPC patients than in population controls

index hpc unselected affected sscp sequencing minisequencing
High resolution melting for mutation scanning of TP53 exons 5-8.

PMID 17764544 · PMC2025602 · BMC cancer · 2007 · 7 claims · 5 setups

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HRM is an effective technique for rapid scanning of TP53 mutations that can markedly reduce required sequencing

tp53-mutant ovarian breast high hrm dideoxy
Of brain and bone: the unusual case of Dr. A.

PMID 20183548 · PMC2997763 · Neurocase · 2009 · 7 claims · 8 setups

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Dr. A's EXT2 mutation may play a role in the pattern of neurodegeneration seen in his FTD, given that Ext1-knockout mice show CNS defects including loss of olfactory bulbs and abnormally small cerebral cortex

structural blood postmortem muscle voxel-based genetic neuropathology
A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.

PMID 12483017 · PMC3054970 · Journal of Korean medical science · 2002 · 7 claims · 5 setups

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A missense mutation (Arg1448Cys, R1448C) in SCN4A causes paramyotonia congenita in this Korean family

skeletal abductor genomic proband needle short muscle
MSI test to distinguish between HNPCC and other predisposing syndromes -- of value in tailored surveillance.

PMID 15528791 · PMC3839337 · Disease markers · 2004 · 8 claims · 5 setups

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MSI (or immunohistochemistry) testing applied to a pre-selected patient with a family history or early-onset colorectal cancer can distinguish HNPCC from unknown non-HNPCC colorectal cancer syndromes.

population-based swedish colorectal hnpcc clinical histopathological microsatellite
Mutation analysis of the ATR gene in breast and ovarian cancer families.

PMID 15987455 · PMC1175065 · Breast cancer research : BCR · 2005 · 8 claims · 5 setups

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ATR mediates the DNA damage response by phosphorylating tumor suppressors such as p53, BRCA1 and CHK1, making it a plausible candidate breast/ovarian cancer susceptibility gene

index atr variant mutation direct variant
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

PMID 17100996 · PMC2714973 · Clinical genetics · 2006 · 6 claims · 6 setups

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RSK2(RPS6KA3) mutations can present with a mild or atypical Coffin-Lowry phenotype overlapping clinically with nonsyndromic X-linked mental retardation

blood-derived affected unaffected population mutation clinical segregation
Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.

PMID 17029639 · PMC1624846 · BMC cancer · 2006 · 6 claims · 4 setups

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Coding sequences and intron-exon boundaries of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 were screened in 94 familial CRC cases with known genes excluded

genomic predicted archival mutation targeted functional
Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.

PMID 16764716 · PMC1586026 · BMC cancer · 2006 · 8 claims · 6 setups

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The 9106C>T (Q2960X) and IVS16-2A>G BRCA2 mutations are recurrent in MBC families from North-East Italy and may reflect a founder effect.

blood germline tumor family mutation mlpa microsatellite

Experiments

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

Social and ethical implications of genomics, race, ethnicity, and health inequities.

Advances in breast cancer: pathways to personalized medicine.

Clinical and genotypic findings in HIV-infected patients with the K65R mutation failing first-line antiretroviral therapy in Nigeria.

Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.

Evaluation of models to predict BRCA germline mutations.

Patents and translational research in genomics.

Resistance to thyroid hormone with missense mutation (V349M) in the thyroid hormone receptor beta gene.

Numbers of mutations to different types of colorectal cancer.

Variation in breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.

CHEK2 variants associate with hereditary prostate cancer.

High resolution melting for mutation scanning of TP53 exons 5-8.

Of brain and bone: the unusual case of Dr. A.

A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.

MSI test to distinguish between HNPCC and other predisposing syndromes -- of value in tailored surveillance.

Mutation analysis of the ATR gene in breast and ovarian cancer families.

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.

Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.