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).

• An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

  PMID 25914166 · PMC4830354 · American journal of medical genetics. Part A · 2015 · 7 claims · 8 setups

  Has reproduction

  HRAS c.179G>A (p.Gly60Asp) causes an attenuated Costello syndrome phenotype without severe failure-to-thrive, intellectual disability, or cancer predisposition

  cos-7 transiently patients parental ras co-immunoprecipitation immunoblotting

• Numbers of mutations to different types of colorectal cancer.

  PMID 16202134 · PMC1266026 · BMC cancer · 2005 · 8 claims · 5 setups

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  Different biologic subtypes of colorectal cancer require different numbers of oncogenic mutations before transformation

  colorectal germline finnish seer microsatellite germline bayesian

• Adverse prognosis of epigenetic inactivation in RUNX3 gene at 1p36 in human pancreatic cancer.

  PMID 18475302 · PMC2391125 · British journal of cancer · 2008 · 7 claims · 5 setups

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  RUNX3 promoter hypermethylation is frequent in primary pancreatic cancer tissue

  pancreatic microsatellite methylation-specific bisulphite

• A genome-wide approach to identify genetic loci with a signature of natural selection in the Irish population.

  PMID 16904005 · PMC1779589 · Genome biology · 2006 · 8 claims · 7 setups

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  Eight SNPs with extreme European-branch locus-specific branch length (LSBL) were selected from a genome-wide FST dataset as candidates for selection in Europe.

  snp irish french fst-based microsatellite genome-wide

• Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis.

  PMID 15528790 · PMC3888729 · Disease markers · 2004 · 8 claims · 8 setups

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  Mononucleotide repeats are more sensitive, specific, and easier to use than dinucleotide repeats for detecting MSI-H tumors

  msi-h colon hmsh6-mutated tumors pentaplex pcr dinucleotide

• Relationship between the extent of chromosomal losses and the pattern of CpG methylation in gastric carcinomas.

  PMID 16224153 · PMC2779276 · Journal of Korean medical science · 2005 · 7 claims · 4 setups

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  High-level-loss (LOH-H) tumors show a tendency toward unmethylation in Maspin, CAGE, MAGE-A2, and RABGEF1 genes

  microdissected same bisulfite-modified pcr microsatellite methylation-specific bisulfite

• Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.

  PMID 18660851 · PMC2483297 · Molecular vision · 2008 · 8 claims · 6 setups

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  The four affected siblings are compound heterozygotes for two novel WFS1 mutations, one from each parent, causing Wolfram syndrome.

  genomic affected microsatellite pcr allele-specific

• Allelotype of squamous cell carcinoma of the head and neck: fractional allele loss correlates with survival.

  PMID 7577465 · PMC2033926 · British journal of cancer · 1995 · 7 claims · 4 setups

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  Allelic imbalance/LOH occurs most frequently on chromosome arms 3p, 9p, 17p and 18q (>45% LOH) in SCCHN

  scchn subset microsatellite fractional survival

• Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

  PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups

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  GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.

  palestinian genomic probands lymphoblasts targeted sanger pcr

• 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

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

  sporadic wilms fetal 293t loh multiplex genome-wide

• 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

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

  genomic tumor single-strand loss

• Pancreatic tumours: molecular pathways implicated in ductal cancer are involved in ampullary but not in exocrine nonductal or endocrine tumorigenesis.

  PMID 11161385 · PMC2363700 · British journal of cancer · 2001 · 8 claims · 6 setups

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  PDC shows frequent alterations of K-ras, p53, p16 and DPC4, confirming these as the core molecular fingerprint of ductal cancer

  pancreatic same tumor pet sscp methylation-specific microsatellite

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

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

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  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

• The role of MYH and microsatellite instability in the development of sporadic colorectal cancer.

  PMID 17031395 · PMC2360566 · British journal of cancer · 2006 · 8 claims · 8 setups

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  MYH-associated colorectal cancers can develop through either a chromosomal instability pathway or a microsatellite instability (MSI) pathway, contradicting the assumption that these are mutually exclusive.

  lymphocyte colorectal tumour msi-positive pcr restriction microsatellite

• 1p36 is a preferential target of chromosome 1 deletions in astrocytic tumours and homozygously deleted in a subset of glioblastomas.

  PMID 17934521 · PMC2650419 · Oncogene · 2008 · 8 claims · 8 setups

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  Total 1p deletion is rare (2%) in astrocytic tumours, whereas partial deletions involving 1p36 are common and increase with malignancy grade (22% in anaplastic astrocytomas, 34% in glioblastomas)

  astrocytic glioblastomas array-cgh microsatellite quantitative

• Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.

  PMID 19858129 · PMC3030964 · Journal of medical genetics · 2010 · 7 claims · 5 setups

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  Two unrelated PHP-I families each include at least one patient with a Gsα coding mutation (PHP-Ia) and another with GNAS imprinting defects (PHP-Ib)

  genomic erythrocyte gnas sanger methylation-specific microsatellite

• Establishment and characterisation of six human biliary tract cancer cell lines.

  PMID 12107841 · PMC2376107 · British journal of cancer · 2002 · 8 claims · 8 setups

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  Six new human biliary tract cancer cell lines (SNU-245, SNU-308, SNU-478, SNU-869, SNU-1079, SNU-1196) were established and characterised from Korean patients

  biliary snu lines microdissected culture fingerprinting pcr-sscp

• Genetic variants of surfactant proteins A, B, C, and D in bronchopulmonary dysplasia.

  PMID 17264398 · PMC3850613 · Disease markers · 2006 · 7 claims · 4 setups

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  Significant associations (p ≤ 0.01) were found between BPD subgroups and alleles of SP-B and SP-B-linked microsatellite markers, and haplotypes of SP-A, SP-D, and SP-B

  greek genomic family-based pyrosequencing pcr

• 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

• BRAF, KRAS and PIK3CA mutations in colorectal serrated polyps and cancer: primary or secondary genetic events in colorectal carcinogenesis?

  PMID 18782444 · PMC2553419 · BMC cancer · 2008 · 8 claims · 7 setups

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  KRAS, BRAF and PIK3CA mutations occur in the majority of colorectal polyps and are mutually exclusive

  formalin-fixed colorectal sporadic polyps pcr bisulfite pentaplex