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).

• Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

  PMID 17437275 · PMC2696796 · Human mutation · 2007 · 7 claims · 5 setups

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  Four novel pathogenic ZEB1 mutations (two deletions, one nonsense, one duplication, all in exon 7) were identified in four of ten unrelated Czech/British PPCD families

  peripheral genomic six individuals sequencing pcr microsatellite

• Expoldb: expression linked polymorphism database with inbuilt tools for analysis of expression and simple repeats.

  PMID 17038195 · PMC1618849 · BMC genomics · 2006 · 8 claims · 6 setups

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  EXPOLDB is a novel database integrating human gene expression variability data (including monozygotic twin comparisons) with (TG/CA)n repeat polymorphism information

  blood genomic genes housekeeping microarray repeat est-based

• A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

  PMID 19763161 · PMC2730533 · PLoS genetics · 2009 · 7 claims · 8 setups

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  A heterozygous SCN9A missense mutation (p.N641Y) cosegregates with febrile seizures in the large K4425 family and is absent from ethnically matched population controls

  family k4425 embryonic scn9a-n641y linkage copy deletion

• The human L-threonine 3-dehydrogenase gene is an expressed pseudogene.

  PMID 12361482 · PMC131051 · BMC genetics · 2002 · 8 claims · 7 setups

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  The human TDH gene is located at chromosome 8p23-22, spans 10 kb, and has 8 exons that would be expected to encode a 369-residue ORF.

  genomic predicted cdna tissues genomic sequence pcr

• Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours.

  PMID 11870543 · PMC2375272 · British journal of cancer · 2002 · 8 claims · 5 setups

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  DFFA is localized within the 1p36.2-3 smallest region of overlap (SRO) of deletions defined in Scandinavian neuroblastoma tumours, distal to marker D1S244

  scandinavian chromosome unfinished neuroblastoma pcr bac-library in-silico

• PRKCA and multiple sclerosis: association in two independent populations.

  PMID 16596167 · PMC1420678 · PLoS genetics · 2006 · 8 claims · 8 setups

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  PRKCA (protein kinase C alpha) on 17q24 is associated with MS in Finnish families

  finnish canadian unrelated blood snp dense multipoint

• Genomic approaches to the genetics of alcoholism.

  PMID 12875046 · PMC6683845 · Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism · 2002 · 8 claims · 4 setups

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  Alcoholism is a complex disease that develops from a combination of numerous genetic and environmental factors, unlike single-gene disorders such as cystic fibrosis or Huntington's disease.

  specified genomic gene genomic exon

• Mutation screening of HSF4 in 150 age-related cataract patients.

  PMID 18941546 · PMC2569895 · Molecular vision · 2008 · 8 claims · 4 setups

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  Five new HSF4 sequence variants (c.1020-25G>A, c.1078A>G, c.1223C>T, c.1256+25C>T, c.1286C>T) were found in age-related cataract patients but not in 220 controls.

  peripheral hsf4b hsf4 genomic secondary sequence

• Homozygous P86S mutation of the human glucagon receptor is associated with hyperglucagonemia, alpha cell hyperplasia, and islet cell tumor.

  PMID 19657311 · PMC2767399 · Pancreas · 2009 · 8 claims · 6 setups

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  A homozygous P86S mutation in GCGR is associated with hyperglucagonemia and α cell hyperplasia in the patient

  patient's hek293 pancreatic sanger radioligand camp

• Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.

  PMID 11454237 · PMC34549 · BMC genetics · 2001 · 6 claims · 4 setups

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  The desmuslin (DMN) gene was localized to chromosome 15q26.3 via electronic screening of the human genome database, and its 5-exon genomic organization was determined.

  genomic electronic pcr pcr-restriction

• Mutation analysis of the ATR gene in breast and ovarian cancer families.

  PMID 15987455 · PMC1175065 · Breast cancer research : BCR · 2005 · 8 claims · 5 setups

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  ATR mediates the DNA damage response by phosphorylating tumor suppressors such as p53, BRCA1 and CHK1, making it a plausible candidate breast/ovarian cancer susceptibility gene

  index atr variant mutation direct variant

• Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).

  PMID 19929093 · PMC2945731 · The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2009 · 8 claims · 4 setups

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  The translocation breakpoints disrupt SLC31A1 (intron 1) on chromosome 9 and a predicted gene containing CCL2 (5'UTR/exons) on chromosome 17

  family genomic case-control case fluorescence long-range mutation

• Genomic structure and alterations of homeobox gene CDX2 in colorectal carcinomas.

  PMID 10027310 · PMC2362430 · British journal of cancer · 1999 · 8 claims · 6 setups

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  CDX2 expression is decreased in colorectal carcinomas in prior studies

  genomic sporadic hnpcc carcinoma standard pcr-sscp cloning

• Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

  PMID 18989382 · PMC2579935 · Molecular vision · 2008 · 7 claims · 6 setups

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  Missense mutations in CYP1B1 are most likely responsible for PCG in these three Pakistani families

  genomic family ethnically affected genotyping two-point sanger

• Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.

  PMID 18431453 · PMC2324116 · Molecular vision · 2008 · 7 claims · 5 setups

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  Five novel FRMD7 mutations were identified in five of seven Chinese families with X-linked infantile nystagmus.

  genomic affected patients linkage direct snp

• Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

  PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups

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  Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations

  genomic pcr-amplified tsc healthy dhplc direct pcr