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).

• Multiple epiphyseal dysplasia.

  PMID 19995321 · PMC2823319 · Acta orthopaedica · 2009 · 8 claims · 4 setups

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  An exon 3/intron 3 donor splice mutation (IVS3DS [+2] T>C) in COL9A2 was identified in all affected family members

  family patients microsatellite sequencing clinical

• A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.

  PMID 19038017 · PMC2611973 · BMC medical genetics · 2008 · 6 claims · 3 setups

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  A novel 4-base insertion mutation (1114insGAGT) in exon 2 of CDMP1 underlies Grebe-type chondrodysplasia in this Pakistani family

  peripheral genomic microsatellite direct mutation

• Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

  PMID 17436019 · PMC1914248 · Human genetics · 2007 · 7 claims · 8 setups

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  A homozygous 63.1-kb intragenic deletion in LARGE (exons 9-10) causes Walker-Warburg syndrome in a consanguineous Saudi family

  genomic family skeletal blood microsatellite direct multiplex

• Functional role of the KLF6 tumour suppressor gene in gastric cancer.

  PMID 19101139 · PMC2970616 · European journal of cancer (Oxford, England : 1990) · 2009 · 7 claims · 8 setups

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  The KLF6 locus undergoes loss of heterozygosity (LOH) in a majority of gastric cancer samples and is associated with advanced tumour stage

  gastric ags hs746t fluorescent direct 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

• Spinocerebellar ataxia type 23: a genetic update.

  PMID 19089525 · PMC2694919 · Cerebellum (London, England) · 2009 · 8 claims · 6 setups

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  The SCA23 disease locus maps to chromosome 20p13-12.3, spanning ~6 Mb and containing 97 known/predicted genes.

  members post-mortem candidate coding genome-wide neuropathological southern

• Alterations in candidate genes PHF2, FANCC, PTCH1 and XPA at chromosomal 9q22.3 region: pathological significance in early- and late-onset breast carcinoma.

  PMID 18990233 · PMC2633285 · Molecular cancer · 2008 · 8 claims · 5 setups

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  PHF2, FANCC and PTCH1 show high frequency of alterations (deletion/methylation) compared to XPA in both early- and late-onset breast carcinoma groups

  invasive breast normal microsatellite methylation sscp

• Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue.

  PMID 16426447 · PMC1373649 · BMC medical genetics · 2006 · 7 claims · 4 setups

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  MSI status can be determined in the absence of proband non-tumor tissue by comparing tumor alleles to alleles carried by the proband's progenitors

  proband's peripheral hmsh2 microsatellite direct targeted

• Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation.

  PMID 18614783 · PMC2518320 · The New England journal of medicine · 2008 · 7 claims · 5 setups

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  A heterozygous frameshift mutation in NPPA (encoding atrial natriuretic peptide, ANP) causes familial atrial fibrillation

  family plasma atria genome-wide fine exon

• A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.

  PMID 18334930 · PMC2255027 · Molecular vision · 2008 · 7 claims · 5 setups

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  A novel heterozygous de novo PAX6 frameshift mutation (c.577_578insG, insG@Gly72) in exon 6 causes autosomal dominant aniridia with congenital cataract, nystagmus, and glaucoma in this family.

  genomic pax6 direct microsatellite blast

• INI1 mutations in meningiomas at a potential hotspot in exon 9.

  PMID 11161377 · PMC2363707 · British journal of cancer · 2001 · 6 claims · 5 setups

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  A recurrent somatic INI1 mutation (G1130A, Arg377His) occurs at a hotspot in exon 9 in a subset of meningiomas.

  meningioma re-extracted sscp direct pcr

• The CHEK2(*)1100delC mutation has no major contribution in oesophageal carcinogenesis.

  PMID 14970869 · PMC2410163 · British journal of cancer · 2004 · 7 claims · 7 setups

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  CHEK2*1100delC has no major contribution in oesophageal carcinogenesis

  oesophageal barrett's dysplastic dutch allele-specific polymorphic immunohistochemistry

• JAK2 V617F: a single mutation in the myeloproliferative group of disorders.

  PMID 16755940 · PMC1891745 · The Ulster medical journal · 2006 · 8 claims · 8 setups

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  A single acquired JAK2 mutation (V617F, G1849T in exon 14) is found across polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis

  blood haematopoietic granulocytes mpd pcr-direct sirna microsatellite

• Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.

  PMID 10098735 · PMC2362253 · British journal of cancer · 1999 · 7 claims · 6 setups

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  The FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer

  breast tumour sscp exon-by-exon southern

• High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia lymphoblastoid cell line irradiated with gamma-rays.

  PMID 11714443 · PMC5926665 · Japanese journal of cancer research : Gann · 2001 · 7 claims · 5 setups

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  A high proportion (12/15, 80%) of gamma-ray-induced HPRT-deficient mutants in A-T (GM2783) cells are deletions

  gm2783 mutant multiplex pcr long

• Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

  PMID 16327884 · PMC1298935 · PLoS genetics · 2005 · 8 claims · 8 setups

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  Point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated CL/P

  family additional unrelated mutant direct linkage targeted

• Recurring genomic breaks in independent lineages support genomic fragility.

  PMID 17090315 · PMC1636669 · BMC evolutionary biology · 2006 · 6 claims · 6 setups

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  The propensity of a chromosomal region to break is significantly correlated among independent lineages, even after accounting for covariates like region length and functional class.

  hg17 genome computationally comparative marker segmental

• Endothelial Adgrl2 Expression and Alternative Splicing Controls the Cerebrovasculature.

  PMID 41876233 · PMC13108381 · The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026 · 8 claims · 5 setups

  Has reproduction · 75

  Endothelial cell-specific deletion of Adgrl2 impairs cerebrovascular integrity in mice

  wild-type cortex brain single-molecule single-cell immunohistochemistry

• Mutations in APC, CTNNB1 and K-ras genes and expression of hMLH1 in sporadic colorectal carcinomas from the Netherlands Cohort Study.

  PMID 16356174 · PMC1334229 · BMC cancer · 2005 · 8 claims · 5 setups

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  CTNNB1 mutations at phosphorylation sites are rare and of minor importance in sporadic colorectal cancer

  archival colorectal formalin-fixed tumour mutation immunohistochemistry microsatellite

• Two modes of microsatellite instability in human cancer: differential connection of defective DNA mismatch repair to dinucleotide repeat instability.

  PMID 15778432 · PMC1067522 · Nucleic acids research · 2005 · 8 claims · 8 setups

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  Dinucleotide microsatellite alterations in human cancer fall into two distinct modes: Type A (length changes ≤6 bp) and Type B (changes ≥8 bp)

  msh2− mlh1− lymphomas colorectal fluorescent sequencing immunohistochemistry