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).

• B lymphocyte involvement in ankylosing spondylitis: the heavy chain variable segment gene repertoire of B lymphocytes from germinal center-like foci in the synovial membrane indicates antigen selection.

  PMID 11299060 · PMC30712 · Arthritis research · 2001 · 8 claims · 4 setups

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  70 rearranged heavy chain VH genes from AS synovial membrane were characterized; 59 were potentially functional

  frozen lymphocytes microdissected pcr double microdissection semi-nested

• Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

  PMID 15447792 · PMC523852 · BMC medical genetics · 2004 · 8 claims · 8 setups

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  TMPRSS3 mutations were identified in four additional Pakistani families with recessive, nonsyndromic congenital deafness co-segregating with DFNB8/B10 haplotypes

  pakistani affected retina tissues linkage sanger race

• Mutation patterns of mtDNA: empirical inferences for the coding region.

  PMID 18518963 · PMC2438339 · BMC evolutionary biology · 2008 · 5 claims · 3 setups

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  Heteroplasmy was detected in 6.5% (3/46) of Azorean families analyzed, all caused by new point mutations with no insertions/deletions.

  extended-family same direct electropherogram molecular

• Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.

  PMID 10780518 · PMC2363369 · British journal of cancer · 2000 · 8 claims · 4 setups

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  Germline mutations of STK11 were found in 5 of 10 Korean PJS patients screened

  genomic pcr pcr-single-strand cloning pcr-sscp

• Ratiocinative screen of eukaryotic integral membrane protein expression and solubilization for structure determination.

  PMID 19031011 · PMC2756966 · Journal of structural and functional genomics · 2009 · 8 claims · 6 setups

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  A discovery-oriented pipeline using standardized single-condition methods (one expression system, one detergent, one SEC buffer) can efficiently triage large numbers of eukaryotic IMP targets to identify well-behaved candidates for crystallization

  cerevisiae ddm-solubilized sec-included tmhmm ligase-independent small-scale

• 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

• Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

  PMID 18719945 · PMC2716558 · Human genetics · 2008 · 8 claims · 6 setups

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  PCDH15 has an updated gene structure with four additional exons beyond the previously reported 35, producing isoforms in four classes with three alternative cytoplasmic domains (CD1, CD2, CD3).

  genomic retina cdna protocadherin str pcr rt-pcr

• A survey of integral alpha-helical membrane proteins.

  PMID 19760129 · PMC2780624 · Journal of structural and functional genomics · 2009 · 8 claims · 8 setups

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  An automated annotation pipeline defines the integral membrane genome and family associations for 21,379 proteins from 34 genomes, most belonging to 598 Pfam-derived membrane protein families.

  pfam-a organisms 34-genome integral transmembrane comparative sequence

• Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.

  PMID 19753314 · PMC2742641 · Molecular vision · 2009 · 8 claims · 8 setups

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  Compound heterozygosity for two distinct MFRP mutations (a novel nonsense mutation and a recurrent frameshift mutation) causes the nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen complex in this sibling pair

  patients eyes genomic ophthalmological a-mode electroretinogram

• Human genome research in China.

  PMID 15168679 · PMC7079922 · Journal of molecular medicine (Berlin, Germany) · 2004 · 8 claims · 8 setups

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  China completed its assigned 1% share of the international Human Genome Project sequencing effort and contributed ~10% of the HapMap effort

  genome chinese high-risk nb4 large-scale mutation positional

• Switches in expression of Plasmodium falciparum var genes correlate with changes in antigenic and cytoadherent phenotypes of infected erythrocytes.

  PMID 7606775 · PMC3730239 · Cell · 1995 · 6 claims · 8 setups

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  Expression of a specific var gene (A4var) correlates with A4 antigenic type and with binding to ICAM-1

  falciparum cdna c18 genomic rt-pcr southern genomic

• Development of a Premature Stop Codon-detection method based on a bacterial two-hybrid system.

  PMID 16948859 · PMC1569827 · BMC biotechnology · 2006 · 7 claims · 7 setups

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  pREAL, fusing cya fragments T25 and T18 around a cloning site, produces catalytically active adenylate cyclase only when the inserted human DNA lacks a PSC

  coli brca1 colony bth102 bacterial mutagenic heterozygosity

• The molecular landscape of ASPM mutations in primary microcephaly.

  PMID 19028728 · PMC2658750 · Journal of medical genetics · 2009 · 8 claims · 7 setups

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  ASPM mutations are the most common cause of MCPH

  consanguineous genomic parents one polymorphic sanger family

• Additional EFNB1 mutations in craniofrontonasal syndrome.

  PMID 18627045 · PMC2774847 · American journal of medical genetics. Part A · 2008 · 8 claims · 4 setups

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  Loss-of-function mutations in EFNB1 (Xq13.1) are the cause of CFNS in the majority of patients

  lymphoblastoid cfns patients additional pcr multiplex molecular

• PAX6 gene variations associated with aniridia in south India.

  PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups

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  Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)

  genomic pcr aniridia sscp automated allele-specific

• Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia.

  PMID 17540169 · PMC4647864 · Cell · 2007 · 8 claims · 13 setups

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  DAPK1 promoter is epigenetically silenced by DNA methylation in almost all sporadic CLL cases

  cd19+ leukemia raji jurkat quantitative cobra chromatin

• 'Unknown' proteins and 'orphan' enzymes: the missing half of the engineering parts list--and how to find it.

  PMID 20001958 · PMC3022307 · The Biochemical journal · 2009 · 8 claims · 8 setups

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  Comparative genomics is the single most effective strategy for predicting functions of unknown proteins and finding genes for orphan enzymes

  lactococcus lactis arabidopsis coli gene recombinant enzyme

• High-throughput crystallography for structural genomics.

  PMID 19765976 · PMC2764548 · Current opinion in structural biology · 2009 · 8 claims · 8 setups

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  SG programs use genomic sequence data to select structurally novel protein targets, avoiding proteins with known structural homologues

  recombinant recalcitrant hundred family hydrogen situ site-directed

• Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

  PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups

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  21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.

  genomic pcr proband restriction sscp automated