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).

• Characterization, expression profiles, intracellular distribution and association analysis of porcine PNAS-4 gene with production traits.

  PMID 18588709 · PMC2464599 · BMC genetics · 2008 · 8 claims · 7 setups

  Full-text index only

  Porcine PNAS-4 encodes a 194-amino-acid protein that localizes to the Golgi complex

  chinese tissues skeletal pk15 full-length real-time gfp

• Genetics and functional genomics of type 2 diabetes mellitus.

  PMID 14659011 · PMC329413 · Genome biology · 2003 · 7 claims · 5 setups

  Full-text index only

  Genome-wide transcription profiling of diabetic skeletal muscle reveals coordinated downregulation of oxidative phosphorylation genes, converging on PGC1α as a central regulator.

  skeletal population microarray real-time genetic

• Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

  PMID 18825676 · PMC2743946 · Annals of neurology · 2008 · 8 claims · 6 setups

  Full-text index only

  All eight new patients had heterozygous glycine substitution mutations toward the N-terminal end of the collagen VI triple helix

  dermal skeletal fibroblast confluent rt-pcr immunohistochemistry biosynthetic

• Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

  PMID 20022607 · PMC3891822 · Journal of the neurological sciences · 2010 · 8 claims · 7 setups

  Full-text index only

  The heteroplasmic m.12276G>A mtDNA tRNA Leu(CUN) mutation causes a childhood-onset, slowly progressive encephalopathy with ataxia, cognitive impairment, dyspraxia, and sensorineural hearing loss

  skeletal muscle genomic individual histochemistry biochemical direct

• A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.

  PMID 12483017 · PMC3054970 · Journal of Korean medical science · 2002 · 7 claims · 5 setups

  Full-text index only

  A missense mutation (Arg1448Cys, R1448C) in SCN4A causes paramyotonia congenita in this Korean family

  skeletal abductor genomic proband needle short muscle

• A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

  PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups

  Full-text index only

  A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.

  blood-derived patient-derived serum genomic direct rt-pcr gelatin

• Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

  PMID 19941982 · PMC4354948 · European journal of medical genetics · 2010 · 8 claims · 5 setups

  Full-text index only

  Three Hispanic families from Mexico with novel FBN1 mutations show cardiovascular and ocular manifestations of MFS but a paucity of skeletal manifestations.

  hispanic hmfs001 family genomic clinical echocardiography ophthalmologic

• Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

  PMID 17133256 · PMC2670452 · European journal of human genetics : EJHG · 2007 · 7 claims · 3 setups

  Full-text index only

  Expert clinical-radiological preselection significantly increases mutation detection rate in MED

  patients genomic single clinical pcr

• Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.

  PMID 16277682 · PMC1297578 · Arthritis research & therapy · 2005 · 6 claims · 4 setups

  Full-text index only

  The M404V mutation in p62/SQSTM1 exon 8 segregates with the polyostotic form of PDB in the F01 Italian family

  genomic serum affected pcr pcr biochemical clinical

• MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

  PMID 18154640 · PMC2233610 · BMC medical genetics · 2007 · 8 claims · 6 setups

  Full-text index only

  Chromosome 8p23.1 has previously been proposed as a nuclear modifier locus for A1555G-associated hearing loss phenotype

  blood a1555g lymphoblastoid nuclear pcr-rflp direct rt-pcr

• Demographic history of Canary Islands male gene-pool: replacement of native lineages by European.

  PMID 19650893 · PMC2728732 · BMC evolutionary biology · 2009 · 8 claims · 7 setups

  Full-text index only

  Autochthonous Berber Y-chromosome lineages E-M81, E-M78 and J-M267 were detected in indigenous Canary Island remains, confirming a North West African origin for the aboriginal ancestors.

  prehispanic indigenous ancient modern y-chromosome nested real-time

• Transcriptome and proteome expressions involved in insulin resistance in muscle and activated T-lymphocytes of patients with type 2 diabetes.

  PMID 18267303 · PMC5054231 · Genomics, proteomics & bioinformatics · 2007 · 8 claims · 8 setups

  Full-text index only

  Gene expression of INSR, VDR, IDE, Akt, IRS-1, IRS-2, GLUT4, and glycolytic pathway enzymes is decreased at least 50% in T2DM muscle and activated T-cells versus non-diabetic controls

  activated skeletal muscle altered affymetrix quantitative sirna

• Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.

  PMID 19796717 · PMC2818230 · Bone · 2010 · 7 claims · 7 setups

  Full-text index only

  A novel homozygous frame-shift mutation (c.485Tdel; p.Glu163ArgfsX53) in DMP1 exon 6 causes ARHP in the three affected kindred members

  peripheral pcr-amplified patients serum nucleotide restriction serum

• Alternative splicing of human peroxisome proliferator-activated receptor delta (PPAR delta): effects on translation efficiency and trans-activation ability.

  PMID 17705821 · PMC2045109 · BMC molecular biology · 2007 · 8 claims · 8 setups

  Full-text index only

  Multiple alternatively spliced 5'-UTR isoforms of human PPARdelta mRNA differ in translation efficiency

  placenta five lines huh7 5'-race rt-pcr real-time

• GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.

  PMID 16919418 · PMC2842930 · Genomics · 2006 · 8 claims · 8 setups

  Full-text index only

  Human FXN YAC transgenes containing GAA repeat expansions (YG22, YG8) rescue the embryonic lethality of homozygous Fxn knockout mice

  yg22 tissues lysates sciatic breeding semiquantitative western

• An original SERPINA3 gene cluster: elucidation of genomic organization and gene expression in the Bos taurus 21q24 region.

  PMID 18384666 · PMC2373789 · BMC genomics · 2008 · 8 claims · 7 setups

  Full-text index only

  The bovine genome contains a cluster of eight SERPINA3 genes and one pseudogene (SERPINA3P) sharing high sequence identity and identical structural organization

  bovine bac roslin deduced southern bac radiation

• Identification of novel homologous microRNA genes in the rhesus macaque genome.

  PMID 18186931 · PMC2254598 · BMC genomics · 2008 · 8 claims · 2 setups

  Full-text index only

  454 rhesus miRNA genes were identified in total, including 383 novel genes in addition to 71 previously reported

  rhesus genome polya

• Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

  PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups

  Full-text index only

  Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).

  genomic frozen skeletal korean direct rt-pcr-based pcr-restriction

• In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

  PMID 19050726 · PMC2672961 · European journal of human genetics : EJHG · 2009 · 8 claims · 8 setups

  Full-text index only

  A 12-nucleotide deletion (c.2997_3008del) in FLNC exon 18, predicting an in-frame four-residue deletion (p.Val930_Thr933del) in the seventh Ig-like repeat of filamin C, was identified in a German family with MFM (mother and daughter).

  genomic muscle skeletal direct topo genescan

• Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.

  PMID 18948002 · PMC2592511 · Neuromuscular disorders : NMD · 2008 · 7 claims · 7 setups

  Full-text index only

  The patient carries a homozygous Trp25X (TGG→TGA) mutation in TCAP causing premature termination of translation/transcription and complete telethonin deficiency.

  pelvis skeletal muscle genomic muscle histology electron