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 33

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

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.

PMID 18802454 · PMC2527686 · PLoS genetics · 2008 · 8 claims · 6 setups

Full-text index only

Three heterozygous missense mutations (p.M337V, p.N345K, p.I383V) in exon 6 of TARDBP were identified in familial ALS patients

patients nd10588 lymphoblastoid neuroglioma sanger taqman copy-number
Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients.

PMID 18541010 · PMC2435117 · Molecular cancer · 2008 · 8 claims · 5 setups

Full-text index only

The CTNNB1 stabilizing mutation S37A was detected in 6 of 104 (5.8%) sporadic parathyroid adenomas by direct DNA sequencing.

sporadic ctnnb1 paired frozen direct restriction snp
Mutational inactivation of mitotic checkpoint genes, hsMAD2 and hBUB1, is rare in sporadic digestive tract cancers.

PMID 10543255 · PMC5926140 · Japanese journal of cancer research : Gann · 1999 · 6 claims · 4 setups

Full-text index only

Mutation of the hsMAD2 gene was not observed in any of the 32 sporadic digestive tract cancers examined.

sporadic same tumor hsmad2 rt-pcr-sscp dnase direct
Mutations in APC, CTNNB1 and K-ras genes and expression of hMLH1 in sporadic colorectal carcinomas from the Netherlands Cohort Study.

PMID 16356174 · PMC1334229 · BMC cancer · 2005 · 8 claims · 5 setups

Full-text index only

CTNNB1 mutations at phosphorylation sites are rare and of minor importance in sporadic colorectal cancer

archival colorectal formalin-fixed tumour mutation immunohistochemistry microsatellite
Most microsatellite unstable sporadic colorectal carcinomas carry MBD4 mutations.

PMID 11104560 · PMC2363466 · British journal of cancer · 2000 · 8 claims · 2 setups

Full-text index only

MBD4 mutations occur in 89% (17/19) of RER+ sporadic colorectal carcinomas when microdissected tumor sites are analyzed

microdissected frozen pcr comparison
BRCA1 5382insC mutation in sporadic and familial breast and ovarian carcinoma in Scotland.

PMID 9155062 · PMC2228233 · British journal of cancer · 1997 · 6 claims · 4 setups

Full-text index only

A restriction site-generating PCR (RG-PCR) assay was developed to detect the BRCA1 5382insC mutation.

tumour breast bc185 rg-pcr single-strand fluorescent
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

Full-text index only

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
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

Full-text index only

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
Genomic structure and alterations of homeobox gene CDX2 in colorectal carcinomas.

PMID 10027310 · PMC2362430 · British journal of cancer · 1999 · 8 claims · 6 setups

Full-text index only

CDX2 expression is decreased in colorectal carcinomas in prior studies

genomic sporadic hnpcc carcinoma standard pcr-sscp cloning
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

Full-text index only

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
Large-scale analysis of mutations in RET exon 16 in sporadic medullary thyroid carcinomas in Japan.

PMID 11429053 · PMC5926749 · Japanese journal of cancer research : Gann · 2001 · 5 claims · 4 setups

Full-text index only

RET exon 16 (codon 918) somatic mutations are rare in sporadic MTC among Japanese patients

paraffin-embedded genomic direct pcr-rflp nested
Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours.

PMID 10389971 · PMC2363009 · British journal of cancer · 1999 · 6 claims · 5 setups

Full-text index only

Microsatellite instability is common in sporadic pancreatic cancer but occurs at a uniformly low rate and is not accompanied by hMLH1/hMSH2 alterations, suggesting it does not drive pancreatic tumorigenesis.

sporadic msi-positive tumour unstable microsatellite denaturing sequencing
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

Full-text index only

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
Frequency and spectrum of c-Ki-ras mutations in human sporadic colon carcinoma, carcinomas arising in ulcerative colitis, and pancreatic adenocarcinoma.

PMID 1773797 · PMC1568060 · Environmental health perspectives · 1991 · 8 claims · 7 setups

Full-text index only

60% (37/61) of sporadic colon carcinomas contain c-Ki-ras codon 12 mutations

sporadic carcinoma pancreatic tumor pcr flow mixing
Prevalence of von Hippel-Lindau gene mutations in sporadic renal cell carcinoma: results from The Netherlands cohort study.

PMID 15932632 · PMC1177929 · BMC cancer · 2005 · 7 claims · 4 setups

Full-text index only

VHL mutations were detected in 61% (114/187) of sporadic clear-cell RCC patients

archival subset flanking paraffin-embedded pcr-sscp feasibility histopathological
Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562.

PMID 19789318 · PMC2756455 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 8 setups

Full-text index only

2q37 harbors a tumor suppressor gene important in Wilms tumor pathogenesis

sporadic wilms fetal 293t loh multiplex genome-wide
Nuclear beta-catenin expression is closely related to ulcerative growth of colorectal carcinoma.

PMID 11953860 · PMC2364167 · British journal of cancer · 2002 · 7 claims · 5 setups

Full-text index only

Nuclear β-catenin expression is significantly associated with ulcerative growth of colorectal cancer

sporadic same genomic immunohistochemistry truncation single-strand
Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.

PMID 10622534 · PMC5926019 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 3 setups

Full-text index only

Novel somatic point mutations and an in-frame deletion were identified in RET exons 12 and 15 in sporadic MTC

formalin-fixed corresponding sporadic pcr clinical
Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism.

PMID 17945002 · PMC2242669 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups

Full-text index only

-26G>A polymorphism in the BRCA2 5' UTR is functional: the A allele drives roughly twice the reporter gene expression of the G allele in MCF-7 and HeLa cells

mcf-7 hela brca2 peripheral luciferase transcription genotyping
BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases.

PMID 18645608 · PMC2452980 · International journal of medical sciences · 2008 · 8 claims · 5 setups

Full-text index only

BRCA1 mutations occur at unusually high frequency in young sporadic Algerian breast cancer cases (9.8%) compared to Western populations

peripheral algerian sanger mlpa microsatellite

Experiments

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.

Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients.

Mutational inactivation of mitotic checkpoint genes, hsMAD2 and hBUB1, is rare in sporadic digestive tract cancers.

Mutations in APC, CTNNB1 and K-ras genes and expression of hMLH1 in sporadic colorectal carcinomas from the Netherlands Cohort Study.

Most microsatellite unstable sporadic colorectal carcinomas carry MBD4 mutations.

BRCA1 5382insC mutation in sporadic and familial breast and ovarian carcinoma in Scotland.

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.

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

Genomic structure and alterations of homeobox gene CDX2 in colorectal carcinomas.

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

Large-scale analysis of mutations in RET exon 16 in sporadic medullary thyroid carcinomas in Japan.

Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours.

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

Frequency and spectrum of c-Ki-ras mutations in human sporadic colon carcinoma, carcinomas arising in ulcerative colitis, and pancreatic adenocarcinoma.

Prevalence of von Hippel-Lindau gene mutations in sporadic renal cell carcinoma: results from The Netherlands cohort study.

Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562.

Nuclear beta-catenin expression is closely related to ulcerative growth of colorectal carcinoma.

Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.

Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism.

BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases.