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).

• Mitochondrial DNA aberrations of bone marrow cells from patients with aplastic anemia.

  PMID 19119453 · PMC2610644 · Journal of Korean medical science · 2008 · 7 claims · 3 setups

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  Bone marrow cells from AA patients show significantly more mtDNA aberrations (mean=25.6) than healthy controls (mean=12.8)

  bone buccal mtdna direct sequence

• WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

  PMID 20887964 · PMC2948809 · American journal of human genetics · 2010 · 5 claims · 3 setups

  Has reproduction

  WDR11 is a gene involved in human puberty, identified via the chromosomal breakpoint of a balanced t(10;12) translocation in a Kallmann syndrome subject.

  kallmann unrelated wdr11 translocation mutation protein-protein

• COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System.

  PMID 19958500 · PMC2788389 · BMC genomics · 2009 · 8 claims · 6 setups

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  COMUS is a bioinformatics system for detecting and depositing new mutations from patient DNA with a clinician-friendly interface

  ab1 fasta mutation hemophilia base-calling sequence known-variant

• A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.

  PMID 24193348 · PMC4060107 · European journal of human genetics : EJHG · 2014 · 6 claims · 2 setups

  Has reproduction · 83

  A novel heterozygous c.1165dupA mutation in exon 7 of TGFB2 (p.Ser389Lysfs*8) was identified in three members of one family with syndromic TAAD.

  cohort patient-derived sanger transcript

• ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.

  PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups

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  A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent

  genomic red computational abo sequencing blood

• CpG island methylation status and mutation analysis of the RB1 gene essential promoter region and protein-binding pocket domain in nervous system tumours.

  PMID 12556968 · PMC2376780 · British journal of cancer · 2003 · 8 claims · 4 setups

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  RB1 CpG island hypermethylation is a common epigenetic event associated with development of malignant nervous system tumours

  nervous bisulphite-modified same pcr-sscp methylation-specific bisulphite

• Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma.

  PMID 16707008 · PMC1483898 · BMC cancer · 2006 · 6 claims · 4 setups

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  Somatic VHL gene alterations (LOH and mutation) may contribute to pathogenesis of MEN2A-associated MTC, similar to their role in MEN2 pheochromocytoma

  microdissected same genomic frozen microsatellite loss vhl

• Association between cigarette smoking, APC mutations and the risk of developing sporadic colorectal adenomas and carcinomas.

  PMID 16545110 · PMC1475604 · BMC cancer · 2006 · 8 claims · 4 setups

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  Smoking is associated with adenoma and CRC development, with the association strongest in tumors lacking APC truncation mutations

  formalin-fixed ffpe paired study direct pcr restriction

• Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations.

  PMID 16502494 · PMC2687569 · Yonsei medical journal · 2006 · 8 claims · 6 setups

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  Two patients with congenital nephrogenic diabetes insipidus (NDI) presented with severe bilateral hydronephrosis, megaureter, and a distended bladder in the absence of any urinary tract obstruction.

  patients genomic fluid abdominal blood

• MutDB: update on development of tools for the biochemical analysis of genetic variation.

  PMID 17827212 · PMC2238958 · Nucleic acids research · 2008 · 7 claims · 5 setups

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  MutDB integrates dbSNP and Swiss-Prot genetic variation data with protein structural information, functional disruption prediction scores, and clinical phenotype links (OMIM, dbGAP)

  proteins mutdb nonsynonymous genes sequence web functional

• The specificity and polymorphism of the MHC class I prevents the global adaptation of HIV-1 to the monomorphic proteasome and TAP.

  PMID 18949050 · PMC2569417 · PloS one · 2008 · 6 claims · 5 setups

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  Within individual hosts, proteasome and TAP escape mutations in HIV-1 occur frequently

  hiv-1 hla-genotyped predicted bioinformatic longitudinal ancestral

• Core signaling pathways in human pancreatic cancers revealed by global genomic analyses.

  PMID 18772397 · PMC2848990 · Science (New York, N.Y.) · 2008 · 8 claims · 6 setups

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  Pancreatic cancers contain an average of 63 genetic alterations, the majority of which are point mutations

  pancreatic computational targeted prevalence snp

• ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

  PMID 18465152 · PMC2441586 · Neurogenetics · 2008 · 8 claims · 8 setups

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  37% (16/43) of Dutch index patients with early-onset recessive cerebellar ataxia carry SACS mutations, indicating ARSACS is far more frequent than previously estimated

  genomic identified sacs-mutation-positive alleles pcr clinical brain

• Exome sequencing identifies the cause of a mendelian disorder.

  PMID 19915526 · PMC2847889 · Nature genetics · 2010 · 8 claims · 7 setups

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  Exome sequencing of a small number of unrelated affected individuals, combined with filtering against public SNP databases and HapMap exomes, is sufficient to identify the causal gene for a monogenic disorder of unknown etiology.

  patients chromosomes dhodh utero exome directed sanger

• Using structural bioinformatics to investigate the impact of non synonymous SNPs and disease mutations: scope and limitations.

  PMID 19758473 · PMC2745591 · BMC bioinformatics · 2009 · 8 claims · 8 setups

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  None of 39 tested structural properties can be used as a sole classification criterion to separate neutral SNPs from disease mutations.

  ensembl swissprot same structural foldx side

• Hepatitis B virus genotypes/subgenotypes in voluntary blood donors in Makassar, South Sulawesi, Indonesia.

  PMID 19691824 · PMC2732614 · Virology journal · 2009 · 7 claims · 5 setups

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  HBV/B and HBV/C are the dominant genotypes among HBsAg-positive blood donors in Makassar

  serum hbv pre-s genotype-specific nested complete

• Correlation between KIT expression and KIT mutation in melanoma: a study of 173 cases with emphasis on the acral-lentiginous/mucosal type.

  PMID 19718013 · PMC4120323 · Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2009 · 8 claims · 2 setups

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  Immunohistochemical KIT expression is significantly associated with KIT mutation status in acral lentiginous/mucosal melanoma

  melanoma immunohistochemistry pcr

• Addressing the age-old question of old age.

  PMID 15287970 · PMC507873 · Genome biology · 2004 · 8 claims · 6 setups

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  Dietary restriction and reduced temperature extend Drosophila lifespan via intrinsically different demographic mechanisms: dietary restriction lowers intrinsic frailty, while lower temperature reduces the rate of senescence.

  drosophila populations australian centenarians demographic historical peptide

• Mutational analysis of the p53 and K-ras genes and allelotype study of the Rb-1 gene for investigating the pathogenesis of combined hapatocellular-cholangiocellular carcinomas.

  PMID 8957064 · PMC5921002 · Japanese journal of cancer research : Gann · 1996 · 6 claims · 4 setups

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  Both components of combined hepatocellular-cholangiocellular carcinoma share the same genetic and phenotypic character and may arise from the same origin in some cases

  formalin-fixed combined pcr-based allelotype immunohistochemistry

• Expression of p73, a novel protein related to the p53 tumour suppressor p53, and apoptosis in cholangiocellular carcinoma of the liver.

  PMID 10362118 · PMC2363034 · British journal of cancer · 1999 · 7 claims · 6 setups

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  p73 protein is expressed (nuclear immunostaining) in a substantial subset of cholangiocellular carcinomas

  cholangiocellular ccc lysates immunohistochemistry direct western