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).

• 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

• APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.

  PMID 7524601 · PMC2033526 · British journal of cancer · 1994 · 7 claims · 8 setups

  Full-text index only

  Chemical cleavage of mismatch (HOT) analysis combined with sequencing identified inactivating constitutional APC mutations in 9 of 10 (90%) linkage-confirmed FAP patients, far exceeding the ~30% detection rate reported in the literature.

  blood pcr pcr-amplified cdna chemical sequencing single-strand

• TP53 mutation analyses on breast carcinomas: a study of paraffin-embedded archival material.

  PMID 8761369 · PMC2074687 · British journal of cancer · 1996 · 8 claims · 8 setups

  Full-text index only

  CDGE can be used to successfully detect TP53 mutations (exons 5-8) in DNA extracted from archival paraffin-embedded breast carcinoma tissue

  archival pcr breast tumour pcr-cdge direct restriction

• 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

• A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer.

  PMID 17233897 · PMC1784098 · BMC cancer · 2007 · 5 claims · 3 setups

  Full-text index only

  A novel BRCA1 nonsense mutation, E1373X, in exon 12 was identified in a Palestinian Arab family with breast and ovarian cancer.

  leukocyte pcr genomic dhplc direct allele-specific

• Detection of p53 mutations in precancerous gastric tissue.

  PMID 14520466 · PMC2394306 · British journal of cancer · 2003 · 8 claims · 6 setups

  Full-text index only

  p53 mutations can be detected in precancerous gastritis and intestinal metaplasia tissue using the restriction site mutation (RSM) assay

  gastric enzyme-resistant gastritis pylori-positive restriction sequencing electron

• Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.

  PMID 17603881 · PMC1924843 · BMC medical genetics · 2007 · 7 claims · 4 setups

  Full-text index only

  Ten recurrent/founder mutations (5 in BRCA1, 5 in BRCA2, including the newly observed BRCA2 c.5374-5377delTATG) account for approximately 50% of BRCA1/2 mutations identified in Spanish families

  genomic same pcr multiplex pcr snapshot

• Frequent p53 mutation in brain (fetal)-type glycogen phosphorylase positive foci adjacent to human 'de novo' colorectal carcinomas.

  PMID 11384100 · PMC2363669 · British journal of cancer · 2001 · 7 claims · 6 setups

  Full-text index only

  BGP positive foci occur sporadically in the transitional mucosa adjacent to 'de novo' colorectal carcinomas in all cases studied

  colorectal microdissected pcr-amplified immunohistochemistry pcr-sscp cloning

• Molecular variants of the ATM gene in Hodgkin's disease in children.

  PMID 14735203 · PMC2409549 · British journal of cancer · 2004 · 8 claims · 4 setups

  Full-text index only

  Missense variants of the ATM gene occur in childhood Hodgkin lymphoma but at low frequency (9%), and thus do not play a major role in oncogenesis of the disease

  frozen matched paired rt-pcr germ-line sscp

• Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

  PMID 17052327 · PMC1626071 · BMC medical genetics · 2006 · 8 claims · 8 setups

  Full-text index only

  RSTS is caused by chromosomal microdeletions and point mutations in one copy of CREBBP (16p13.3), consistent with haploinsufficiency of this dosage-sensitive gene

  peripheral patient-parent genomic crebbp karyotyping bac microsatellite

• Prevalence of A2143G mutation of H. pylori-23S rRNA in Chinese subjects with and without clarithromycin use history.

  PMID 18507832 · PMC2427034 · BMC microbiology · 2008 · 7 claims · 6 setups

  Full-text index only

  A2143G point mutation of the H. pylori 23S rRNA gene causes clarithromycin resistance

  fasting subjects serum pylori pcr 13c-urea elisa

• Targeted KRAS mutation assessment on patient tumor histologic material in real time diagnostics.

  PMID 19888477 · PMC2768905 · PloS one · 2009 · 8 claims · 5 setups

  Full-text index only

  Q-PCR methods yield informative KRAS mutation results even on very fragmented FFPE-DNA where dideoxy-sequencing fails (p<0.0001)

  ffpe dideoxy-sequencing taqman-mgb dxs-kras

• New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

  PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups

  Full-text index only

  DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients

  genomic pcr polycystin-1 czech denaturing sanger family

• Significance of somatic mutations and content alteration of mitochondrial DNA in esophageal cancer.

  PMID 16620376 · PMC1459869 · BMC cancer · 2006 · 8 claims · 3 setups

  Full-text index only

  Somatic mtDNA mutations are frequent in esophageal cancer, found in 55% (11/20) of tumors analyzed

  paired fragments ttge direct real-time

• The promise of biomarkers in colorectal cancer detection.

  PMID 15322316 · PMC3839323 · Disease markers · 2004 · 8 claims · 8 setups

  Full-text index only

  A panel/combination of biomarkers is likely to provide better predictive value for early CRC detection than any single biomarker.

  stool specimens serum multi-target afb1-n7-guanine mutation

• Molecular epidemiology of DFNB1 deafness in France.

  PMID 15070423 · PMC385234 · BMC medical genetics · 2004 · 8 claims · 7 setups

  Full-text index only

  35delG remains the most common pathogenic GJB2 mutation in the studied French (Languedoc Roussillon) population despite being less frequent than in other Mediterranean populations

  gjb2 dried genomic deaf dhplc pcr-mediated pcr-dhplc

• Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.

  PMID 18510646 · PMC2689154 · Annals of human genetics · 2008 · 7 claims · 5 setups

  Full-text index only

  Direct sequencing of 43 candidate genes in 7 Spanish arRP families identified 244 sequence variants (76 novel), none pathogenic, excluding these genes as disease-causing.

  spanish rp5 population candidate direct comparative pcr

• A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.

  PMID 18989381 · PMC2579934 · Molecular vision · 2008 · 8 claims · 5 setups

  Full-text index only

  Two-point linkage analysis maps this Chinese adPEO family to the PEO1 (Twinkle) locus on chromosome 10q23.3-24.3, with the other three candidate genes excluded.

  members family biceps proband two-point direct muscle

• Ankyrin-linked hereditary spherocytosis in an African-American kindred.

  PMID 18704959 · PMC11304496 · American journal of hematology · 2008 · 6 claims · 7 setups

  Full-text index only

  A novel heterozygous initiator methionine mutation (ATG→ATA, Met1Ile), termed ankyrin New Haven, was identified in exon 1 of the ankyrin-1 gene as the cause of HS in this kindred.

  genomic erythrocyte rabbit dhplc sscp nucleotide

• Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

  PMID 18644145 · PMC2492855 · BMC medical genetics · 2008 · 8 claims · 6 setups

  Full-text index only

  Pathogenic REEP1 mutations were identified in 4.3% (7/162) of autosomal dominant 'pure' HSP cases

  genomic pcr-amplified reep1 pcr dhplc direct