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).

• Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.

  PMID 16968793 · PMC1865081 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 7 setups

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  Homozygous StAR missense mutations Val187Met and Arg188Cys cause a novel, milder form of lipoid CAH ('non-classic lipoid CAH') presenting at 2-4 years of age rather than in infancy

  blood cos-1 bacteria mitochondria sequencing cell-based recombinant

• Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.

  PMID 16244706 · PMC1262189 · PLoS genetics · 2005 · 7 claims · 5 setups

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  Putative pathogenic RMRP mutations are located in highly conserved nucleotides across mammals, whereas polymorphisms are located in non-conserved positions.

  genomic rmrp family non-finnish sequencing comparative microsatellite

• Longitudinal analysis of early stage sarcopenia in aging rhesus monkeys.

  PMID 18983905 · PMC2693938 · Experimental gerontology · 2009 · 8 claims · 6 setups

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  mtDNA deletion mutations induce ETS enzyme abnormalities (COXneg/SDHhyp phenotypes) linked to intra-fiber atrophy and fiber loss

  rhesus vastus muscle single dual hematoxylin immunohistochemistry

• 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

• BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

  PMID 18234728 · PMC2564862 · Journal of medical genetics · 2008 · 8 claims · 7 setups

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  BHD germline mutation detection rate was 88% (51/58 families) using direct DNA sequencing

  peripheral blood-derived folliculin chest direct subcloning sequence

• Ancient adaptive evolution of the primate antiviral DNA-editing enzyme APOBEC3G.

  PMID 15269786 · PMC479043 · PLoS biology · 2004 · 7 claims · 6 setups

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  APOBEC3G has been under strong, recurrent positive selection throughout primate evolution (~33 million years)

  apobec3g pairwise human-chimpanzee apobec1 pcr phylogenetic sliding

• Global genetic diversity of human metapneumovirus fusion gene.

  PMID 15207075 · PMC3323143 · Emerging infectious diseases · 2004 · 8 claims · 6 setups

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  Phylogenetic analysis of the HMPV F gene identifies two main groups (A and B, 93%-96% amino acid identity) further divided into four subgroups (A1, A2, B1, B2)

  hmpv llc-mk2 clinical rt-pcr sequence phylogenetic

• The genome of the simian and human malaria parasite Plasmodium knowlesi.

  PMID 18843368 · PMC2656934 · Nature · 2008 · 8 claims · 7 setups

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  The P. knowlesi (H strain) nuclear genome was sequenced and assembled: 23.5 Mb across 14 chromosomes with 5,188 predicted protein-encoding genes.

  knowlesi predicted type whole-genome comparative pfam

• Worldwide distribution of NAT2 diversity: implications for NAT2 evolutionary history.

  PMID 18304320 · PMC2292740 · BMC genetics · 2008 · 8 claims · 8 setups

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  NAT2 coding region sequence variation in the Mandenka and other sub-Saharan African populations is consistent with selective neutrality and constant population size.

  mandenka worldwide hapmap nat2 full snp analysis

• NEIBank: genomics and bioinformatics resources for vision research.

  PMID 18648525 · PMC2480482 · Molecular vision · 2008 · 8 claims · 7 setups

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  NEIBank is an integrated genomics and bioinformatics resource for vision research, combining EST/cDNA clone data, SAGE expression data, and eye disease gene databases.

  dissected eye retina cdna est serial sequence

• Uprobe 2008: an online resource for universal overgo hybridization-based probe retrieval and design.

  PMID 18515352 · PMC2447791 · Nucleic acids research · 2008 · 7 claims · 7 setups

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  Uprobe provides new predesigned whole-genome universal overgo probe sets for screening marsupial, rodent, and carnivore BAC libraries.

  wallaby squirrel deer clouded overgo bac comparative

• Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.

  PMID 1694220 · PMC2188166 · The Journal of experimental medicine · 1990 · 8 claims · 8 setups

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  Patient 14 (moderate phenotype) carries a C-to-T substitution at nucleotide 517 of the beta subunit cDNA, changing amino acid 149 from leucine to proline

  ebv-transformed cos 51cr-labeled rnase cdna pcr

• Getting positive about selection.

  PMID 12914654 · PMC193638 · Genome biology · 2003 · 8 claims · 4 setups

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  Purifying selection is the predominant form of molecular evolution, preserving fitness by eliminating deleterious mutations, while positive selection is rare but critical for adaptation.

  genome chimpanzee human-chimpanzee humans whole-genome ratio maximum-likelihood

• DNA methylation and mRNA expression of SYN III, a candidate gene for schizophrenia.

  PMID 19102774 · PMC2630979 · BMC medical genetics · 2008 · 8 claims · 6 setups

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  Variation in SYN III distal CpG island methylation is not related to schizophrenia in the population sample or in a monozygotic twin pair discordant for schizophrenia

  brain blood non-human semi-quantitative sodium bisulfite

• Increased constraints on MC4R during primate and human evolution.

  PMID 19011902 · PMC9947067 · Human genetics · 2009 · 6 claims · 7 setups

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  There is a significant paucity of genetic diversity at MC4R in humans but not in chimpanzees.

  hgdp-ceph germans central additional dhplc direct coding

• Genome-wide analysis of the human Alu Yb-lineage.

  PMID 15588477 · PMC3525081 · Human genomics · 2004 · 8 claims · 6 setups

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  1,733 Alu Yb-lineage elements are present on human autosomal chromosomes

  genome genomic non-human yb7 computational pcr-based pcr

• Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion.

  PMID 15045028 · PMC374243 · PLoS biology · 2004 · 8 claims · 6 setups

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  The ASPM gene shows accelerated (positively selected) evolution in the African hominoid clade, and this acceleration precedes hominid brain expansion by several million years.

  chimpanzee retrofitted primate aspm tar restriction genomic

• Endonuclease-independent insertion provides an alternative pathway for L1 retrotransposition in the human genome.

  PMID 17517773 · PMC1920257 · Nucleic acids research · 2007 · 8 claims · 5 setups

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  An endonuclease-independent pathway (NCLI) for L1 insertion has been active in recent human genome evolution

  genome chimpanzee genomic pcr computational triple pcr