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 5

System / cell line: constitutional ✕ Assay: sanger ✕ Clear

Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome.

PMID 18087273 · PMC2361463 · British journal of cancer · 2008 · 8 claims · 5 setups

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The malignant brain tumours in patients III-1, III-3, and III-4, originally classified as anaplastic ependymomas, are in fact atypical teratoid/rhabdoid tumours (AT/RT)

constitutional formalin-fixed tumour blood sanger denaturing immunohistochemistry
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
Mutations in PIK3CA are infrequent in neuroblastoma.

PMID 16822308 · PMC1533846 · BMC cancer · 2006 · 8 claims · 6 setups

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PIK3CA activating mutations are infrequent in human neuroblastoma (2.9%, 2/69 tumors)

neuroblastoma neuroblastoma-derived patients th-mycn targeted sanger rt-pcr
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing.

PMID 18438408 · PMC2705838 · Nature genetics · 2008 · 8 claims · 8 setups

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Massively parallel paired-end sequencing can characterize somatic and germline structural rearrangements to base-pair resolution across a whole cancer genome

nci-h2171 nci-h1770 massively genomic rt-pcr
Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.

PMID 19720790 · PMC2780873 · Diabetes · 2009 · 7 claims · 8 setups

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INSR is disrupted by the chromosome 19 breakpoint, causing INSR haploinsufficiency (monoallelic expression) that explains the insulin resistance/dysglycemia phenotype

metaphase genomic ebv-transformed serum fluorescence multiplex sanger

Experiments

Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome.

Somatic mutations of KIT in familial testicular germ cell tumours.

Mutations in PIK3CA are infrequent in neuroblastoma.

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing.

Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.