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).

• A novel sodium bicarbonate cotransporter-like gene in an ancient duplicated region: SLC4A9 at 5q31.

  PMID 11305939 · PMC31480 · Genome biology · 2001 · 8 claims · 8 setups

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  SLC4A9 is a novel human NBC-like gene on chromosome 5q31 encoding a 990-amino-acid, 12-transmembrane-domain protein with high similarity to other sodium bicarbonate cotransporters

  bac kidney genomic marathon genomic cdna pcr

• Phylogenetic variation and polymorphism at the toll-like receptor 4 locus (TLR4).

  PMID 11104518 · PMC31919 · Genome biology · 2000 · 7 claims · 7 setups

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  The Tlr4 extracellular domain is far more variable than the cytoplasmic domain, both among mouse strains and among species

  tlr4 mus chimpanzee baboon genomic coding sequence

• Species-specific protein sequence and fold optimizations.

  PMID 12487631 · PMC139977 · BMC bioinformatics · 2002 · 7 claims · 7 setups

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  Environmental niche is a significant factor explaining variability in amino acid composition across 100 complete genomes

  predicted mean over orf principal hierarchical domain-based

• Characterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usage.

  PMID 12697062 · PMC156599 · BMC genetics · 2003 · 8 claims · 6 setups

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  Rabbit MYOC encodes a 490 amino acid, 54,882-Da protein that is 84% identical overall to human myocilin

  rabbit gtm66 myoc myocilin cdna sds-page transfection

• Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.

  PMID 18334962 · PMC2268858 · Molecular vision · 2008 · 8 claims · 4 setups

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  Two MYOC sequence variants were identified in Japanese POAG patients: a novel non-synonymous variant p.Gln297His and a previously reported variant p.Ala363Thr.

  genomic myoc poag pcr amino clinical

• Genomic Description of 'Candidatus Abyssubacteria,' a Novel Subsurface Lineage Within the Candidate Phylum Hydrogenedentes.

  PMID 30210471 · PMC6121073 · Frontiers in microbiology · 2018 · 8 claims · 7 setups

  Has reproduction · 91

  SURF_5 and SURF_17 are the first full genomes of a novel bacterial lineage, 'Candidatus Abyssubacteria,' within the candidate phylum Hydrogenedentes

  deep co-assembled surf_17 surf_5 whole-genome novo 16s

• Genomic sequence and analysis of a vaccinia virus isolate from a patient with a smallpox vaccine-related complication.

  PMID 17062162 · PMC1635044 · Virology journal · 2006 · 8 claims · 6 setups

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  VACV-DUKE is most similar to VACV-ACAM2000 and VACV-CLONE3, confirming it as a Dryvax-derived isolate

  vacv-duke whole-genome phylogenetic comparative

• Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.

  PMID 19112531 · PMC2610290 · Molecular vision · 2008 · 8 claims · 4 setups

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  A novel STRA6 missense variant (p.G217E, exon 8) and a novel STRA6 nonsense variant (p.Q592X, exon 18) were identified in one A/M subject and absent from 89 controls, implicating STRA6 in this subject's A/M phenotype.

  genomic stra6 direct variant

• The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.

  PMID 18718264 · PMC3835188 · The Journal of pediatrics · 2008 · 6 claims · 5 setups

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  The patient carries two identical homozygous mutations (GC>AA at positions 197/198) in exon 1 of PCFT, causing a premature stop codon (C66X)

  parental rfc hela blood genomic [3h]5-methyltetrahydrofolate northern

• 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

• Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.

  PMID 17029639 · PMC1624846 · BMC cancer · 2006 · 6 claims · 4 setups

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  Coding sequences and intron-exon boundaries of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 were screened in 94 familial CRC cases with known genes excluded

  genomic predicted archival mutation targeted functional

• Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.

  PMID 17653036 · PMC2774456 · Molecular vision · 2007 · 8 claims · 4 setups

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  A novel heterozygous mutation (383A>T; D128V) in exon 5 of CRYBB2 cosegregates with congenital cataract in all three affected family members and is absent in unaffected relatives.

  genomic pcr-amplified computational pcr restriction pcr-rflp

• A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females.

  PMID 17554401 · PMC1885554 · International journal of medical sciences · 2007 · 8 claims · 6 setups

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  A novel VNTR polymorphism (TTTC repeat) was discovered at -1241 nucleotides in the 5'-flanking region of NPPB, with 8 alleles ranging from 9 to 19 repeats.

  genomic plasma serum n=317 pcr-sscp nucleotide genotyping

• Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.

  PMID 17515881 · PMC2669507 · Molecular vision · 2007 · 8 claims · 6 setups

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  Five RS1 mutations (c.574C>T, c.583A>G, c.608C>T, c.617G>A, c.637C>T) were identified in exon 6 of six unrelated Indian XLRS patients

  genomic pcr xlrs retinoschisin pcr-sscp direct rflp

• Increasing the number of SNP loci does not necessarily improve prediction power at least in the comparison of MTHFR SNP and haplotypes.

  PMID 19075497 · PMC4771609 · Journal of epidemiology · 2008 · 7 claims · 6 setups

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  Increasing the number of typed SNP loci does not necessarily improve prediction power, at least for the MTHFR gene

  healthy genomic genotype trial randomized snp haplotype

• Better smelling through genetics: mammalian odor perception.

  PMID 18938244 · PMC2590501 · Current opinion in neurobiology · 2008 · 8 claims · 8 setups

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  Odorant receptor (OR) gene repertoire size and pseudogene fraction vary dramatically across mammalian species

  mammals subjects v1r trpc2 comparative genetic targeted

• A missense mutation in LIM2 causes autosomal recessive congenital cataract.

  PMID 18596884 · PMC2442473 · Molecular vision · 2008 · 7 claims · 5 setups

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  A homozygous missense mutation (Gly154Glu, c.587G>A) in LIM2 causes autosomal recessive congenital cataract in a human family

  genomic mp19 patients pcr sscp cosegregation

• Genomic structure and expression of Jmjd6 and evolutionary analysis in the context of related JmjC domain containing proteins.

  PMID 18564434 · PMC2453528 · BMC genomics · 2008 · 8 claims · 6 setups

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  Jmjd6 has been misleadingly annotated as a transmembrane receptor for engulfment of apoptotic cells; recent evidence contradicts this transmembrane receptor function

  species genomic jmjd6 jmjc reciprocal comparative est

• Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.

  PMID 20057903 · PMC2802291 · Molecular vision · 2009 · 7 claims · 8 setups

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  BEST1 mutations are not correlated with the severity of functional and clinical data in Best VMD patients

  genomic unrelated best1 best1-4 direct chromosome pathogenicity

• Mutation analysis of the AATF gene in breast cancer families.

  PMID 20025740 · PMC2806411 · BMC cancer · 2009 · 6 claims · 6 setups

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  No AATF sequence alteration identified was predicted to be pathogenic or showed significant association with breast cancer risk

  genomic showing aatf case conformation direct pathogenicity