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

• Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.

  PMID 20160442 · PMC4432877 · Cells, tissues, organs · 2010 · 8 claims · 5 setups

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  A novel FAM83H nonsense mutation c.1374C>A (p.Y458X) in exon 5 is identified as the cause of AD hypocalcified amelogenesis imperfecta in this family

  genomic sectioned tooth family sequencing scanning energy

• Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.

  PMID 17615541 · PMC2768756 · Molecular vision · 2007 · 8 claims · 4 setups

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  Eleven different RS1 mutations were identified in 12 Chinese XLRS families, including four novel mutations (26delT, 488delG, Asp145His, Arg156Gly).

  patients genomic xlrs eyes comprehensive pcr single-flash

• A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings.

  PMID 18518985 · PMC2435521 · BMC medical genetics · 2008 · 7 claims · 6 setups

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  A novel heterozygous WFS1 mutation c.2054G>C (p.R685P) segregates faithfully with dominant LFSNHL in an American family

  family wolframin pure-tone vestibular electrocochleography

• Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.

  PMID 18660851 · PMC2483297 · Molecular vision · 2008 · 8 claims · 6 setups

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  The four affected siblings are compound heterozygotes for two novel WFS1 mutations, one from each parent, causing Wolfram syndrome.

  genomic affected microsatellite pcr allele-specific

• Analysis of X chromosome inactivation in autism spectrum disorders.

  PMID 18361425 · PMC4867005 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 6 claims · 5 setups

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  No significant excess of skewed XCI was found in mothers of children with ASD or in affected girls compared to controls

  genomic multiplex mecp2 four chromosome non-parametric mutation

• Identification of HLA-DRPhebeta47 as the susceptibility marker of hypersensitivity to beryllium in individuals lacking the berylliosis-associated supratypic marker HLA-DPGlubeta69.

  PMID 16098233 · PMC1198259 · Respiratory research · 2005 · 7 claims · 4 setups

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  HLA-DPGlu69 is the primary marker of Be-hypersensitivity, present at higher frequency in berylliosis patients than in Be-sensitized subjects and Be-exposed controls

  pbmc peripheral population high beryllium lymphocyte

• A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

  PMID 19710941 · PMC2730747 · Molecular vision · 2009 · 8 claims · 3 setups

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  A novel missense mutation A1274G (Lys322Glu) in exon 10 of OPTN was identified in affected members of the family

  family peripheral patients microsatellite pcr clinical

• Variants in the vitamin D receptor gene and asthma.

  PMID 15651992 · PMC546000 · BMC genetics · 2005 · 8 claims · 6 setups

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  VDR gene variants are candidate risk factors for asthma/allergy because vitamin D effects are mediated through the VDR and VDR maps to the 12q asthma linkage region

  individuals children parents transmission bronchial pulmonary

• MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

  PMID 17480217 · PMC1868705 · BMC medical genetics · 2007 · 8 claims · 7 setups

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  The MRX87 disease locus maps to the Xp22-p21 interval, a known hot spot region for mental handicap

  peripheral genomic pcr leukocytes two-point direct pcr

• Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol.

  PMID 19096718 · PMC2603445 · Molecular vision · 2008 · 7 claims · 5 setups

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  CYP1B1 mutations are implicated in POAG among Iranians, notably in the juvenile-onset form

  genomic cyp1b1 poag microarray-based dideoxy sanger

• The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

  PMID 15743497 · PMC1064126 · Breast cancer research : BCR · 2005 · 7 claims · 5 setups

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  The AR CAG repeat polymorphism does not modify breast cancer risk in BRCA1 mutation carriers

  peripheral brca1 same simulated fluorescent cox weighted

• 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

• Genetics of bipolar disorder.

  PMID 18689285 · PMC3181866 · Dialogues in clinical neuroscience · 2008 · 8 claims · 6 setups

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  BP-I has a strong genetic component supported by segregation, adoption, and twin studies across populations

  multiplex pooled bp-affected monozygotic genome-wide genome candidate

• Genetic and functional association of FAM5C with myocardial infarction.

  PMID 18430236 · PMC2383879 · BMC medical genetics · 2008 · 8 claims · 5 setups

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  SNPs within FAM5C show genetic linkage to and association with myocardial infarction in the GENECARD family-based sample

  genecard cathgen donor aortic genome-wide case-control expression

• Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

  PMID 20037587 · PMC3786192 · Nature genetics · 2010 · 8 claims · 6 setups

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  SPSMA and CMT2C are allelic disorders caused by mutations in TRPV4

  spsma spsma-affected hek293 candidate histopathology confocal

• Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia.

  PMID 17540169 · PMC4647864 · Cell · 2007 · 8 claims · 13 setups

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  DAPK1 promoter is epigenetically silenced by DNA methylation in almost all sporadic CLL cases

  cd19+ leukemia raji jurkat quantitative cobra chromatin