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 77

System / cell line: mutations ✕ Assay: germline ✕ Clear

Intricate targeting of immunoglobulin somatic hypermutation maximizes the efficiency of affinity maturation.

PMID 15867095 · PMC2213188 · The Journal of experimental medicine · 2005 · 7 claims · 6 setups

Full-text index only

IgVH genes have evolved precise placement of coding-strand Cs so that AID-induced C-to-T mutations are predominantly silent, especially in the CDRs.

igvh germline non-igv immunogenetics flow cdna bioinformatic
Anterior diffuse retinoblastoma: mutational analysis and immunofluorescence staining.

PMID 19653712 · PMC2810483 · Archives of pathology & laboratory medicine · 2009 · 6 claims · 7 setups

Full-text index only

Anterior diffuse retinoblastoma, traditionally considered sporadic/nonheritable, can arise from a germline RB1 mutation and thus may be heritable

enucleated tumor anterior immunofluorescence rb1 fine-needle
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

Full-text index only

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

sporadic matched mutational
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
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

PMID 18234728 · PMC2564862 · Journal of medical genetics · 2008 · 8 claims · 7 setups

Full-text index only

BHD germline mutation detection rate was 88% (51/58 families) using direct DNA sequencing

peripheral blood-derived folliculin chest direct subcloning sequence
Somatic mutations of KIT in familial testicular germ cell tumours.

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

Full-text index only

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

blood ffpe familial csge direct contingency
Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.

PMID 14735200 · PMC2409576 · British journal of cancer · 2004 · 8 claims · 2 setups

Full-text index only

Seven germline INK4a-ARF changes (five novel) were found in 7 of 89 patients (8%) suspected of genetic predisposition to melanoma.

genomic pcr real-time
Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.

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

Full-text index only

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
Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations.

PMID 8613431 · PMC5921088 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 4 setups

Full-text index only

hMSH2 germline mutations were detected in 5 of 36 Japanese HNPCC kindreds (14%)

peripheral tumor sscp somatic loss
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

Full-text index only

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
BRCA1 and BRCA2 mutations in central and southern Italian patients.

PMID 11056688 · PMC13918 · Breast cancer research : BCR · 2000 · 8 claims · 4 setups

Full-text index only

Deleterious germline BRCA1/BRCA2 mutations were detected in 11 of 136 (8%) unrelated Italian breast/ovarian cancer probands.

genomic peripheral truncation single-strand direct
No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.

PMID 19077293 · PMC2635354 · BMC medical genetics · 2008 · 8 claims · 5 setups

Full-text index only

SAFB1 and SAFB2 had previously been proposed as tumour suppressor genes in breast cancer based on functional properties (ERα repression) and loss of heterozygosity in tumours

germline genomic identified individuals sequencing pcr mlpa
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

Full-text index only

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
Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer.

PMID 17700570 · PMC2360390 · British journal of cancer · 2007 · 8 claims · 3 setups

Full-text index only

Germline protein-truncating BRCA2 mutations confer an elevated relative risk (~7.8-fold) of early-onset prostate cancer in Caucasian men

peripheral population-based same germline epidemiological genotype-phenotype
Mutational analysis of BRCA1 gene in ovarian and breast-ovarian cancer families in Japan.

PMID 9197534 · PMC5921420 · Japanese journal of cancer research : Gann · 1997 · 5 claims · 2 setups

Full-text index only

Germline BRCA1 mutations were detected in 7 of 19 Japanese cancer families (4 breast-ovarian, 3 site-specific ovarian)

genomic tumor single-strand loss
Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome.

PMID 10389970 · PMC2363026 · British journal of cancer · 1999 · 6 claims · 2 setups

Full-text index only

No germline mutations were detected in CDKN2 (p16 or p19ARF) in any of the 16 TP53-negative LFS/LFL families tested

peripheral nested
Detection of germline BRCA1 mutations by Multiple-Dye Cleavase Fragment Length Polymorphism (MD-CFLP) method.

PMID 11556835 · PMC2375072 · British journal of cancer · 2001 · 6 claims · 4 setups

Full-text index only

MD-CFLP can detect DNA sequence alterations (single-base substitutions, small insertions/deletions) in BRCA1 fragments longer than 1 kb

brca1 direct pcr multiple-dye
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

Full-text index only

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
Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk.

PMID 18612690 · PMC2768068 · Diseases of the colon and rectum · 2008 · 7 claims · 4 setups

Full-text index only

Germline missense APC alterations (S130G, E1317Q, D1822V, G2502S) identified in a CRC-multiple-polyp cohort do not confer significantly increased CRC risk when tested in a large population-based case-control series

germline same population-based ofccr manual dhplc nuclease
Ethnic differences and functional analysis of MET mutations in lung cancer.

PMID 19723643 · PMC2767337 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 7 setups

Full-text index only

MET mutations identified in lung tumors are predominantly germline rather than somatic

tumor established recombinant cos-7 pcr elisa-based apoptosis

Experiments

Intricate targeting of immunoglobulin somatic hypermutation maximizes the efficiency of affinity maturation.

Anterior diffuse retinoblastoma: mutational analysis and immunofluorescence staining.

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

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

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

Somatic mutations of KIT in familial testicular germ cell tumours.

Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.

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

Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations.

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

BRCA1 and BRCA2 mutations in central and southern Italian patients.

No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.

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

Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer.

Mutational analysis of BRCA1 gene in ovarian and breast-ovarian cancer families in Japan.

Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome.

Detection of germline BRCA1 mutations by Multiple-Dye Cleavase Fragment Length Polymorphism (MD-CFLP) method.

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

Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk.

Ethnic differences and functional analysis of MET mutations in lung cancer.