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).

• Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.

  PMID 19753314 · PMC2742641 · Molecular vision · 2009 · 8 claims · 8 setups

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  Compound heterozygosity for two distinct MFRP mutations (a novel nonsense mutation and a recurrent frameshift mutation) causes the nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen complex in this sibling pair

  patients eyes genomic ophthalmological a-mode electroretinogram

• No significant role for beta tubulin mutations and mismatch repair defects in ovarian cancer resistance to paclitaxel/cisplatin.

  PMID 16095531 · PMC1199587 · BMC cancer · 2005 · 6 claims · 4 setups

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  TUBB exon 4 mutations are not found in primary ovarian carcinomas treated with paclitaxel/cisplatin

  ovarian same pcr agarose microsatellite

• Is a genetic defect in Fkbp6 a common cause of azoospermia in humans?

  PMID 16983454 · PMC6275806 · Cellular & molecular biology letters · 2006 · 7 claims · 7 setups

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  Human FKBP6 expression is restricted to the testis among 15 adult tissues examined

  genomic bilateral testicular rt-pcr mutation testicular

• Evaluation of the bacterial diversity among and within individual venous leg ulcers using bacterial tag-encoded FLX and titanium amplicon pyrosequencing and metagenomic approaches.

  PMID 19860898 · PMC2773781 · BMC microbiology · 2009 · 7 claims · 5 setups

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  VLU infections are polymicrobial with no single bacterium colonizing the wounds

  individual pooled second btefap quantitative bulk

• Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).

  PMID 15018634 · PMC356914 · BMC medical genetics · 2004 · 6 claims · 7 setups

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  MRF-SSCP method (using combined restriction digestion plus SSCP with silver staining) was developed to screen PKD1 mutations in full-length cDNA fractionated into nine overlapping nested-PCR segments

  blood pkd1 pcr-purified genomic long nested-pcr mrf-sscp

• Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.

  PMID 17134502 · PMC1684248 · BMC medical genetics · 2006 · 8 claims · 8 setups

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  An intragenic deletion of 3,059 bp within the PITX2 gene, spanning the end of exon 5 through the start of exon 6, causes this family's severe ARS phenotype

  genomic lymphoblastoid i-2 patients pcr quantitative long-range

• Assaying chromosomal inversions by single-molecule haplotyping.

  PMID 16721377 · PMC2690135 · Nature methods · 2006 · 8 claims · 4 setups

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  Haplotype Fusion PCR (HF-PCR) juxtaposes sequences flanking an inversion breakpoint on single DNA molecules via emulsion PCR, generating orientation-specific fusion products diagnostic of inversion genotype

  genomic yac haplotype pulsed template

• Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.

  PMID 17428346 · PMC1855920 · BMC medical genetics · 2007 · 7 claims · 5 setups

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  Two novel missense mutations in the myostatin gene (p.95D>H and p.156L>I) were identified in Japanese DMD patients

  genomic pcr elbow peripheral pcr subcloning gel

• Identification and characterisation of Pseudomonas 16S ribosomal DNA from ileal biopsies of children with Crohn's disease.

  PMID 18974839 · PMC2572839 · PloS one · 2008 · 7 claims · 6 setups

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  Pseudomonas 16S rDNA is significantly more prevalent in ileal biopsies of CD patients than non-IBD patients

  ileal p16s otu pseudomonas nested cloning

• "Sequencing-grade" screening for BRCA1 variants by oligo-arrays.

  PMID 18973698 · PMC2583995 · Journal of translational medicine · 2008 · 7 claims · 6 setups

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  An oligo-array platform can detect BRCA1 SNPs, insertions, and deletions of known and unknown variants, including in heterozygous conditions, with accuracy comparable to direct sequencing

  genomic pcr mcf-10a brca1 oligo-nucleotide direct pcr

• Minisequencing mitochondrial DNA pathogenic mutations.

  PMID 18402672 · PMC2377236 · BMC medical genetics · 2008 · 7 claims · 7 setups

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  A minisequencing multiplex assay can interrogate 25 pathogenic mtDNA mutations across the whole mtDNA genome in a single reaction using 13 amplicons.

  blood-derived same genomic pcr minisequencing automatic multiplex

• Evidence for L1-associated DNA rearrangements and negligible L1 retrotransposition in glioblastoma multiforme.

  PMID 27843499 · PMC5105311 · Mobile DNA · 2016 · 6 claims · 7 setups

  Has reproduction · 67

  Canonical (endonuclease-dependent, TPRT-driven) L1 retrotransposition is absent or negligible in GBM tumours and cultured GBM cell lines

  brain tumour gbm retrotransposon empty qrt-pcr

• Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies.

  PMID 11381192 · PMC3851408 · Disease markers · 2000 · 6 claims · 5 setups

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  Multiplex PCR screening of 18 dystrophin exons detected deletions in 55% of 100 Egyptian DMD/BMD families

  genomic egyptian same peripheral multiplex clinical electromyography

• Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.

  PMID 11710958 · PMC59832 · BMC genetics · 2001 · 7 claims · 6 setups

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  DHPLC screening combined with direct sequencing detects likely disease-causative point mutations in the dystrophin gene missed by multiplexed PCR deletion/duplication testing

  genomic muscle blood direct dhplc multiplexed

• Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

  PMID 15084222 · PMC419352 · BMC medical genetics · 2004 · 6 claims · 5 setups

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  DHPLC gene scanning of the CFTR gene increases the mutation detection rate compared to standard commercial mutation panel screening alone

  genomic pcr cftr inno-lipa pcr agarose

• 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

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  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

• Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

  PMID 18616530 · PMC4732719 · Clinical genetics · 2008 · 8 claims · 8 setups

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  TMC1 mutations were identified in seven of the families/patients segregating hearing loss linked to DFNA36/DFNB7-11

  families affected tmc1 tjp2 genetic sequencing multiplex

• Appearance of E1: A226V mutant Chikungunya virus in Coastal Karnataka, India during 2008 outbreak.

  PMID 19857273 · PMC2774687 · Virology journal · 2009 · 7 claims · 5 setups

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  E1:A226V mutant CHIKV was present and continued to circulate in the 2008 Coastal Karnataka outbreak

  blood serum mosquito partial rt-pcr igm virus

• Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours.

  PMID 10408842 · PMC2362327 · British journal of cancer · 1999 · 8 claims · 3 setups

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  No mutations were found in the coding region of GDNF in any of the 36 brain tumours analysed

  sporadic tumour tumour-derived pcr loss semi-quantitative

• Detection of YMDD motif mutants by oligonucleotide chips in lamivudine-untreated patients with chronic hepatitis B virus infection.

  PMID 15308845 · PMC2816888 · Journal of Korean medical science · 2004 · 6 claims · 5 setups

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  An oligonucleotide chip was developed using probes for wild-type YMDD, M552V, and three M552I probe variants to detect HBV polymerase YMDD motif mutations

  serum hbv nested pcr oligonucleotide pcr restriction