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 prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

  PMID 18625664 · PMC2692309 · Pediatrics · 2008 · 8 claims · 8 setups

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  NPD type B involves multisystem disease including hepatosplenomegaly, interstitial lung disease, dyslipidemia, thrombocytopenia, and growth delay

  leukocyte peripheral serum plasma gene enzyme chitotriosidase

• A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

  PMID 18587493 · PMC2435161 · Molecular vision · 2008 · 6 claims · 4 setups

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  A heterozygous c.262C>A mutation in GJA8 (connexin 50), causing p.P88Q, is associated with a novel 'balloon-like' cataract phenotype with prominent Y-sutural opacities in an Indian family.

  lens family genomic clinical family pcr

• A mouse to human search for plasma proteome changes associated with pancreatic tumor development.

  PMID 18547137 · PMC2504036 · PLoS medicine · 2008 · 7 claims · 8 setups

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  GEM models combined with in-depth proteomic analysis provide a useful strategy to identify candidate cancer markers applicable to human disease with potential for early detection

  plasma immunodepleted pancreatic shotgun two-dimensional immunodepletion

• Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients.

  PMID 18541010 · PMC2435117 · Molecular cancer · 2008 · 8 claims · 5 setups

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  The CTNNB1 stabilizing mutation S37A was detected in 6 of 104 (5.8%) sporadic parathyroid adenomas by direct DNA sequencing.

  sporadic ctnnb1 paired frozen direct restriction snp

• The genomic analysis of erythrocyte microRNA expression in sickle cell diseases.

  PMID 18523662 · PMC2408759 · PloS one · 2008 · 8 claims · 8 setups

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  Mature human erythrocytes lack ribosomal/large RNAs but contain abundant and diverse microRNAs

  mature erythrocytes k562 erythrocyte microrna size northern

• Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

  PMID 18470323 · PMC2373796 · Molecular vision · 2008 · 7 claims · 4 setups

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  The R124C mutation (C417T) in exon 4 of TGFBI cosegregates with lattice corneal dystrophy type I in this Chilean family

  members same genomic clinical stereopsis sanger

• ATBF1 and NQO1 as candidate targets for allelic loss at chromosome arm 16q in breast cancer: absence of somatic ATBF1 mutations and no role for the C609T NQO1 polymorphism.

  PMID 18416817 · PMC2377272 · BMC cancer · 2008 · 8 claims · 7 setups

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  Five genes (NQO1, ATBF1, DBNDD1, HSBP1, CGI-38) at 16q show significantly lower mRNA expression in breast tumors with LOH at 16q compared to tumors without LOH

  ductal same sporadic paired cdna quantitative genotyping

• Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.

  PMID 18382660 · PMC2270336 · PloS one · 2008 · 8 claims · 6 setups

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  16 of 30 patients with suspected MODY (53%) carry GCK mutations, confirming GCK MODY diagnosis

  genomic gck fasting pediatric direct molecular biochemical

• A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.

  PMID 18334966 · PMC2268715 · Molecular vision · 2008 · 7 claims · 5 setups

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  A novel 827C>T transition in GJA8 causes a serine-to-phenylalanine substitution (S276F) associated with dominant congenital pulverulent nuclear cataract in this Chinese family.

  lens excised blood wild-type slit-lamp scanning pcr

• Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

  PMID 18334953 · PMC2268897 · Molecular vision · 2008 · 8 claims · 6 setups

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  A G61C (P.G61C) missense mutation in CRYGD causes autosomal dominant congenital coralliform cataracts in this family

  four-generation genomic crygd wild-type genotyping direct denaturing

• Microproteomics: analysis of protein diversity in small samples.

  PMID 18271009 · PMC2743962 · Mass spectrometry reviews · 2008 · 8 claims · 8 setups

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  Changes in gene/mRNA expression often do not correlate well with changes in protein expression, due to precursor cleavage, post-translational modification, localization, and variable protein lifetimes.

  lcm-dissected single few dense gel maldi capillary

• Of brain and bone: the unusual case of Dr. A.

  PMID 20183548 · PMC2997763 · Neurocase · 2009 · 7 claims · 8 setups

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  Dr. A's EXT2 mutation may play a role in the pattern of neurodegeneration seen in his FTD, given that Ext1-knockout mice show CNS defects including loss of olfactory bulbs and abnormally small cerebral cortex

  structural blood postmortem muscle voxel-based genetic neuropathology

• Associations between polycyclic aromatic hydrocarbon-related exposures and p53 mutations in breast tumors.

  PMID 20064791 · PMC2854728 · Environmental health perspectives · 2010 · 8 claims · 5 setups

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  PAH-related exposures are associated with breast cancer differently according to tumor p53 mutation status, type, effect, and number

  archived breast peripheral study surveyor immunohistochemistry competitive

• A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

  PMID 20039262 · PMC4439312 · Annals of neurology · 2009 · 8 claims · 8 setups

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  A homozygous NEFL nonsense mutation (E210X) causes a severe, early-onset recessive axonal neuropathy in four siblings of a consanguineous family

  family sural nefl-null sw-13 clinical genetic immunohistochemistry

• Assessing the utility of whole-genome amplified serum DNA for array-based high throughput genotyping.

  PMID 20021669 · PMC2803178 · BMC genetics · 2009 · 8 claims · 8 setups

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  WGA DNA from archived serum samples produced low genotyping call rates and is unsuitable for high-resolution genotyping on SNP 6.0 arrays

  wga non-amplified archived serum-derived snp purification whole-genome

• Meta-analysis of inter-species liver co-expression networks elucidates traits associated with common human diseases.

  PMID 20019805 · PMC2787626 · PLoS computational biology · 2009 · 8 claims · 8 setups

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  A novel semi-parametric meta-analysis method (based on a gene-centric Glass's d effect size) outperforms existing parametric and non-parametric meta-analysis methods at identifying functionally coherent gene pairs across species.

  liver simulated conserved nearly gene simulation kolmogorov-smirnov

• CALHM1 P86L polymorphism does not alter amyloid-beta or tau in cerebrospinal fluid.

  PMID 20005921 · PMC2860374 · Neuroscience letters · 2010 · 5 claims · 4 setups

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  CALHM1 P86L genotype does not significantly alter CSF levels of Aβ42, total tau, or phospho-tau in AD or other cognitive disorder patients

  swedish csf snp

• A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.

  PMID 20003495 · PMC2802351 · Orphanet journal of rare diseases · 2009 · 8 claims · 7 setups

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  A novel FAH gene mutation, c.103G>A (Ala35Thr), causes a mild, atypical form of tyrosinemia type I

  fibroblasts liver genomic tnt northern western liver

• Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.

  PMID 19967551 · PMC7370861 · Journal of clinical immunology · 2010 · 8 claims · 8 setups

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  Three unrelated Argentinean HLH patients carry an identical novel homozygous 4-bp deletion (c.581_584delTGCC; p.Leu194ProfsX2) in STX11

  genomic peripheral blood fresh direct snp rt-pcr

• A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.

  PMID 19956411 · PMC2786888 · Molecular vision · 2009 · 6 claims · 7 setups

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  A novel de novo heterozygous nonsense mutation (c.413C>G, p.S138X) in OTX2 causes an early onset retinal dystrophy accompanied by pituitary dysfunction (growth hormone deficiency)

  genomic anonymous single direct lca mismatch