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).

• 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

  Full-text index only

  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

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

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

  Full-text index only

  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

• 52-kD SS-A/Ro: genomic structure and identification of an alternatively spliced transcript encoding a novel leucine zipper-minus autoantigen expressed in fetal and adult heart.

  PMID 7561701 · PMC2192297 · The Journal of experimental medicine · 1995 · 7 claims · 7 setups

  Full-text index only

  The 52-kD SS-A/Ro gene spans 10 kb of DNA and is composed of seven exons, with the translation initiation codon in exon 2 and the leucine zipper encoded by exon 4.

  molt-4 placental placenta fetal cdna genomic race

• Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.

  PMID 18949062 · PMC2571945 · Molecular vision · 2008 · 8 claims · 5 setups

  Full-text index only

  Truncating (nonsense/frameshift) mutations in NHS cause Nance-Horan syndrome by prematurely terminating the protein

  genomic nhs-a hek mdck pcr pcr-based western

• 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

  Full-text index only

  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

• Investigations on a clinically and functionally unusual and novel germline p53 mutation.

  PMID 12085209 · PMC2746598 · British journal of cancer · 2002 · 8 claims · 7 setups

  Full-text index only

  A novel germline 7 base pair insertion in exon 5 of p53 (causing frameshift from codon 161 with a stop at codon 182) was identified in a patient with osteosarcoma at age 22 and choroid plexus papilloma at age 29.

  peripheral yeast saos-2 genomic fasay apoptotic

• A combination of genomic approaches reveals the role of FOXO1a in regulating an oxidative stress response pathway.

  PMID 18301748 · PMC2244703 · PloS one · 2008 · 8 claims · 7 setups

  Full-text index only

  FOXO1a mRNA and protein expression are elevated in human liver compared to chimpanzee liver

  chimpanzee hepg2 promoters liver quantitative western sirna

• A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.

  PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups

  Full-text index only

  A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.

  family hek293t lymphoid pcr-amplified fluorometric site-directed western

• Acquired resistance of lung adenocarcinomas to gefitinib or erlotinib is associated with a second mutation in the EGFR kinase domain.

  PMID 15737014 · PMC549606 · PLoS medicine · 2005 · 7 claims · 6 setups

  Full-text index only

  A secondary EGFR exon 20 mutation (T790M) is found in tumors from patients with acquired resistance to gefitinib or erlotinib

  tumor 293t nsclc direct fluorescent rt-pcr

• Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.

  PMID 17359525 · PMC1838427 · BMC molecular biology · 2007 · 8 claims · 8 setups

  Full-text index only

  OPTC is a candidate gene involved in POAG pathogenesis

  genomic pcr optc retinal pcr-sscp dhplc sequencing

• Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.

  PMID 18834580 · PMC2668603 · American journal of ophthalmology · 2009 · 6 claims · 4 setups

  Full-text index only

  A positive response of macular cysts to dorzolamide can occur across all three known mechanisms of retinoschisin dysfunction (absent secretion, decreased expression, non-functional secretion).

  eyes blood-derived ebna xlrs optical genetic transfection

• Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

  PMID 18577546 · PMC2442425 · Brain : a journal of neurology · 2008 · 8 claims · 8 setups

  Full-text index only

  Co-occurring PED and epilepsy can be caused by autosomal dominant heterozygous mutations in SLC2A1, encoding the glucose transporter GLUT1

  family genomic xenopus patients genome-wide pcr glucose

• Angiotensin I-converting enzyme mutation (Trp1197Stop) causes a dramatic increase in blood ACE.

  PMID 20011602 · PMC2788243 · PloS one · 2009 · 8 claims · 8 setups

  Full-text index only

  A novel heterozygous Trp1197Stop (W1197X) mutation in the ACE gene causes a 13-fold increase in blood ACE activity in an African-American family

  plasma genomic cho heparinized ace plate conformational

• Intracellular sorting and targeting of melanosomal membrane proteins: identification of signals for sorting of the human brown locus protein, gp75.

  PMID 7642699 · PMC2199968 · The Journal of cell biology · 1995 · 7 claims · 7 setups

  Full-text index only

  The 36-amino acid cytoplasmic tail of gp75 alone is sufficient to direct intracellular retention and targeting of chimeric CD8 proteins to the endosomal/lysosomal compartment in fibroblasts

  melanoma sk-mel-19 immunoprecipitated coli immunofluorescence immunoelectron protease

• A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.

  PMID 17308433 · PMC3479083 · Hormone research · 2007 · 7 claims · 6 setups

  Full-text index only

  A novel C794G transversion causing missense mutation T265R in DAX1 (NR0B1) is responsible for X-linked adrenal hypoplasia congenita in this kindred

  genomic tsa201 unspecified proband sequence modified full-length

• Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia.

  PMID 19843922 · PMC2766080 · Circulation. Arrhythmia and electrophysiology · 2009 · 7 claims · 7 setups

  Full-text index only

  Homomeric Kir2.1-V227F channels have significantly reduced I K1 (inward reduced ~40%; outward reduced 85-99% at -40 to -60mV) compared to WT

  cos-1 kir2.1 32-year-old whole-cell site-directed clinical

• Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.

  PMID 19714378 · PMC2854348 · Neurogenetics · 2010 · 8 claims · 5 setups

  Full-text index only

  A missense mutation (R560Q) in the SPAST gene's ATPase domain causes bovine spinal dysmyelination

  cattle bovine coli affinity-purified snp reverse cdna