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 26

System / cell line: familial ✕ Assay: analysis ✕ Clear

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
Genomics: applications in mechanism elucidation.

PMID 19166886 · PMC2698023 · Advanced drug delivery reviews · 2009 · 8 claims · 8 setups

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Genomic tools require no a priori knowledge of a compound's mode of action and can reveal biological pathways (metabolism, distribution, off-target effects) in addition to the precise mechanism of action.

extract panel saccharomyces inbred affinity cytotoxicity genome-wide
The motor neuron m6A repertoire governs neuronal homeostasis and FTO inhibition mitigates ALS symptom manifestation.

PMID 40307231 · PMC12043976 · Nature communications · 2025 · 8 claims · 8 setups

Has reproduction · 59

m6A hypomethylation (not hypermethylation) is consistently associated with ALS across patient iPSC-MNs, postmortem tissue, and independent transcriptomic datasets

familial wild-type hek293t motor transcriptomic m6a shrna
Mutation analysis of the MDM4 gene in German breast cancer patients.

PMID 18279506 · PMC2259322 · BMC cancer · 2008 · 8 claims · 8 setups

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Resequencing of the whole MDM4 coding region in 40 German familial breast cancer patients uncovered two coding variants (V74V and D153G) in 4/40 patients

german bilateral mdm4 lymphoid direct rflp-based splice
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
Mutation analysis of the MSMB gene in familial prostate cancer.

PMID 19997100 · PMC2816656 · British journal of cancer · 2010 · 8 claims · 5 setups

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No deleterious mutations were found in the MSMB coding region in 192 familial prostate cancer cases

germline blood 161-nt genotype sanger taqman transcription
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.

PMID 16968799 · PMC1865483 · The Journal of clinical endocrinology and metabolism · 2006 · 7 claims · 8 setups

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A homozygous R262Q GNRHR mutation was identified in two brothers from an Asian Indian family, one of 11 families studied with delayed puberty or discordant IHH/delayed puberty siblings.

blood serum younger brothers mutational hormone 24-hour
TP53 mutations in ovarian carcinomas from sporadic cases and carriers of two distinct BRCA1 founder mutations; relation to age at diagnosis and survival.

PMID 16229746 · PMC1276789 · BMC cancer · 2005 · 8 claims · 4 setups

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Survival for BRCA1-familial ovarian cancer cases with TP53 mutations was not significantly different from familial cases without TP53 mutations (p=0.25, RR=1.64)

ovarian sporadic paraffin-embedded mutation survival extraction
Risk of pancreatic cancer in families with Lynch syndrome.

PMID 19861671 · PMC4091624 · JAMA · 2009 · 7 claims · 3 setups

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Families with germline MMR gene mutations (Lynch Syndrome) have an 8.6-fold increased risk of pancreatic cancer compared to the general U.S. population.

individuals extracted same modified germline proportional
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
Low frequency of E-cadherin alterations in familial breast cancer.

PMID 11305955 · PMC30704 · Breast cancer research : BCR · 2001 · 8 claims · 5 setups

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No pathogenic germline E-cadherin mutations were found in 19 familial breast cancer patients whose tumours showed LOH at the E-cadherin locus

blood same tumour pcr-sscp denaturing somatic
Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue.

PMID 16426447 · PMC1373649 · BMC medical genetics · 2006 · 7 claims · 4 setups

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MSI status can be determined in the absence of proband non-tumor tissue by comparing tumor alleles to alleles carried by the proband's progenitors

proband's peripheral hmsh2 microsatellite direct targeted
Clinical correlates of depressive symptoms in familial Parkinson's disease.

PMID 18785635 · PMC2872794 · Movement disorders : official journal of the Movement Disorder Society · 2008 · 7 claims · 5 setups

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Depressive symptoms are significantly associated with Hoehn and Yahr stage, motor impairment (UPDRS Part III), and functional disability/ADL measures (Blessed, UPDRS Part II)

familial clinical genotyping sequencing
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

PMID 20023659 · PMC2980844 · Nature genetics · 2010 · 8 claims · 8 setups

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Mutations in INF2, a formin family actin-regulating protein, cause autosomal dominant focal segmental glomerulosclerosis (FSGS)

families genes individuals kidney genome-wide sanger resequencing
PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

PMID 20003494 · PMC2806404 · Journal of negative results in biomedicine · 2009 · 8 claims · 6 setups

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None of the detected PALB2 variants, including 1592delT, show significant association with PRCA at the population level in Finland

blood finnish combined formalin-fixed direct additional statistical
Somatic mutations of KIT in familial testicular germ cell tumours.

PMID 15150569 · PMC2410291 · British journal of cancer · 2004 · 6 claims · 3 setups

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No germline KIT mutations were found in constitutional DNA from 240 familial TGCT pedigrees

blood ffpe familial csge direct contingency
Screening for TP53 mutations in patients and tumours from 109 Swedish breast cancer families.

PMID 9099970 · PMC2222784 · British journal of cancer · 1997 · 6 claims · 6 setups

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No germline TP53 mutations (exons 5-8) were found in 128 breast cancer patients from 109 families with familial cancer.

genomic tumour paired constant restriction sequencing
Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.

PMID 11044354 · PMC2408797 · British journal of cancer · 2000 · 6 claims · 4 setups

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BRCA1 and BRCA2 mutations are rare in the general population and account for only a small fraction of all breast cancer in the UK

genomic pedigrees first-degree study pcr pedigree-based age
Somatic and germline mutation in GRIM-19, a dual function gene involved in mitochondrial metabolism and cell death, is linked to mitochondrion-rich (Hurthle cell) tumours of the thyroid.

PMID 15841082 · PMC2361763 · British journal of cancer · 2005 · 8 claims · 5 setups

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Somatic missense GRIM-19 mutations occur in a subset of sporadic Hürthle cell carcinomas but not in non-Hürthle cell thyroid carcinomas or blood donors

sporadic hürthle pcr loss semi-quantitative
Human genome research in China.

PMID 15168679 · PMC7079922 · Journal of molecular medicine (Berlin, Germany) · 2004 · 8 claims · 8 setups

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China completed its assigned 1% share of the international Human Genome Project sequencing effort and contributed ~10% of the HapMap effort

genome chinese high-risk nb4 large-scale mutation positional

Experiments

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

Genomics: applications in mechanism elucidation.

The motor neuron m6A repertoire governs neuronal homeostasis and FTO inhibition mitigates ALS symptom manifestation.

Mutation analysis of the MDM4 gene in German breast cancer patients.

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

Mutation analysis of the MSMB gene in familial prostate cancer.

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.

TP53 mutations in ovarian carcinomas from sporadic cases and carriers of two distinct BRCA1 founder mutations; relation to age at diagnosis and survival.

Risk of pancreatic cancer in families with Lynch syndrome.

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

Low frequency of E-cadherin alterations in familial breast cancer.

Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue.

Clinical correlates of depressive symptoms in familial Parkinson's disease.

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

Somatic mutations of KIT in familial testicular germ cell tumours.

Screening for TP53 mutations in patients and tumours from 109 Swedish breast cancer families.

Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.

Somatic and germline mutation in GRIM-19, a dual function gene involved in mitochondrial metabolism and cell death, is linked to mitochondrion-rich (Hurthle cell) tumours of the thyroid.

Human genome research in China.