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 14

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

Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours.

PMID 10408842 · PMC2362327 · British journal of cancer · 1999 · 8 claims · 3 setups

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No mutations were found in the coding region of GDNF in any of the 36 brain tumours analysed

sporadic tumour tumour-derived pcr loss semi-quantitative
Sequence analysis and transcript expression of the MEN1 gene in sporadic pituitary tumours.

PMID 10389976 · PMC2363023 · British journal of cancer · 1999 · 6 claims · 4 setups

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No MEN1 coding-region mutations were detected in any of 23 sporadic pituitary tumours with 11q13 LOH, arguing against MEN1 mutation as the mechanism of tumorigenesis in these cases

sporadic evaluable histologically loh direct rt-pcr
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

PMID 17663003 · PMC3272403 · Journal of the neurological sciences · 2007 · 6 claims · 5 setups

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Only two BSCL2 exon 3 mutations (N88S, S90L) are likely responsible for the dHMN-V and Silver syndrome phenotypes identified in this cohort

unrelated probands single sanger nerve needle
Absence of somatic alterations of the EB1 gene adenomatous polyposis coli-associated protein in human sporadic colorectal cancers.

PMID 9823979 · PMC2063196 · British journal of cancer · 1998 · 6 claims · 4 setups

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No somatic point mutations were found in the entire EB1 coding sequence in sporadic colorectal cancers or adenomas

sporadic pcr colorectal rt-pcr direct microsatellite
Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

PMID 11991808 · PMC107843 · BMC genetics · 2002 · 6 claims · 5 setups

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The genomic organization of human CCS was characterized, with the 823 bp coding region organized into 8 exons spanning 12798 bp of genomic DNA.

bac heart ccs genomic genomic rt-pcr transcription
MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.

PMID 19758471 · PMC2745589 · BMC bioinformatics · 2009 · 8 claims · 5 setups

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MtSNPscore, a weighted scoring pipeline combining literature evidence, in silico predictions, and case/control frequency, can prioritize likely pathogenic mtDNA variations

sporadic mitochondrial reported ataxia mitochondrial functional compensatory
Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability.

PMID 8609062 · PMC5921065 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 2 setups

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Mutations of hMLH1 or hMSH2 play only a limited role in the development of sporadic endometrial carcinomas.

sporadic matched mutational
The homeobox gene CDX2 in colorectal carcinoma: a genetic analysis.

PMID 11161380 · PMC2363702 · British journal of cancer · 2001 · 7 claims · 7 setups

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No CDX2 mutations predisposing to sporadic colorectal cancer were identified

genomic pcr cdna informative sscp pcr automated
Mutation screening of HSF4 in 150 age-related cataract patients.

PMID 18941546 · PMC2569895 · Molecular vision · 2008 · 8 claims · 4 setups

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Five new HSF4 sequence variants (c.1020-25G>A, c.1078A>G, c.1223C>T, c.1256+25C>T, c.1286C>T) were found in age-related cataract patients but not in 220 controls.

peripheral hsf4b hsf4 genomic secondary sequence
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

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

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

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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
Prevalence and functional analysis of sequence variants in the ATR checkpoint mediator Claspin.

PMID 19737971 · PMC2994259 · Molecular cancer research : MCR · 2009 · 8 claims · 8 setups

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CLSPN is a mediator protein essential for the ATR- and CHK1-dependent checkpoint response to replicative stress or single-stranded DNA

ebv-immortalized sporadic same caucasian genomic denaturing genotyping
ATBF1 and NQO1 as candidate targets for allelic loss at chromosome arm 16q in breast cancer: absence of somatic ATBF1 mutations and no role for the C609T NQO1 polymorphism.

PMID 18416817 · PMC2377272 · BMC cancer · 2008 · 8 claims · 7 setups

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Five genes (NQO1, ATBF1, DBNDD1, HSBP1, CGI-38) at 16q show significantly lower mRNA expression in breast tumors with LOH at 16q compared to tumors without LOH

ductal same sporadic paired cdna quantitative genotyping
Programmed genetic instability: a tumor-permissive mechanism for maintaining the evolvability of higher species through methylation-dependent mutation of DNA repair genes in the male germ line.

PMID 18535014 · PMC2464741 · Molecular biology and evolution · 2008 · 8 claims · 7 setups

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Repair genes are numerically less common than apoptosis genes in the genomes of multicellular organisms

yeast familial human-mouse comparative gene mutation

Experiments

Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours.

Sequence analysis and transcript expression of the MEN1 gene in sporadic pituitary tumours.

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

Absence of somatic alterations of the EB1 gene adenomatous polyposis coli-associated protein in human sporadic colorectal cancers.

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.

Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability.

The homeobox gene CDX2 in colorectal carcinoma: a genetic analysis.

Mutation screening of HSF4 in 150 age-related cataract patients.

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

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

Prevalence and functional analysis of sequence variants in the ATR checkpoint mediator Claspin.

ATBF1 and NQO1 as candidate targets for allelic loss at chromosome arm 16q in breast cancer: absence of somatic ATBF1 mutations and no role for the C609T NQO1 polymorphism.

Programmed genetic instability: a tumor-permissive mechanism for maintaining the evolvability of higher species through methylation-dependent mutation of DNA repair genes in the male germ line.