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 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

• 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

• Development of a Premature Stop Codon-detection method based on a bacterial two-hybrid system.

  PMID 16948859 · PMC1569827 · BMC biotechnology · 2006 · 7 claims · 7 setups

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  pREAL, fusing cya fragments T25 and T18 around a cloning site, produces catalytically active adenylate cyclase only when the inserted human DNA lacks a PSC

  coli brca1 colony bth102 bacterial mutagenic heterozygosity

• A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

  PMID 17615540 · PMC2768755 · Molecular vision · 2007 · 8 claims · 4 setups

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  A novel heterozygous C260T substitution in GJA3, causing a Thr87Met (T87M) change, is associated with a distinct 'pearl box' cataract phenotype in family CC-472.

  genomic patients connexin bidirectional restriction clinical

• A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

  PMID 18587493 · PMC2435161 · Molecular vision · 2008 · 6 claims · 4 setups

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  A heterozygous c.262C>A mutation in GJA8 (connexin 50), causing p.P88Q, is associated with a novel 'balloon-like' cataract phenotype with prominent Y-sutural opacities in an Indian family.

  lens family genomic clinical family pcr

• Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.

  PMID 17655765 · PMC1950490 · BMC medical genetics · 2007 · 8 claims · 3 setups

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  No coding mutations were found in NR2E1 or SNX3 in five patients with MMEP or related phenotypes

  patients unaffected sanger restriction

• A missense mutation in LIM2 causes autosomal recessive congenital cataract.

  PMID 18596884 · PMC2442473 · Molecular vision · 2008 · 7 claims · 5 setups

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  A homozygous missense mutation (Gly154Glu, c.587G>A) in LIM2 causes autosomal recessive congenital cataract in a human family

  genomic mp19 patients pcr sscp cosegregation

• Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

  PMID 18470323 · PMC2373796 · Molecular vision · 2008 · 7 claims · 4 setups

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  The R124C mutation (C417T) in exon 4 of TGFBI cosegregates with lattice corneal dystrophy type I in this Chilean family

  members same genomic clinical stereopsis sanger

• Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

  PMID 18334953 · PMC2268897 · Molecular vision · 2008 · 8 claims · 6 setups

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  A G61C (P.G61C) missense mutation in CRYGD causes autosomal dominant congenital coralliform cataracts in this family

  four-generation genomic crygd wild-type genotyping direct denaturing

• A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.

  PMID 19052653 · PMC2592999 · Molecular vision · 2008 · 7 claims · 4 setups

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  PITX2 is considered the major causative gene for full-spectrum Axenfeld-Rieger syndrome.

  genomic healthy peripheral affected pcr genomic full

• Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

  PMID 18719945 · PMC2716558 · Human genetics · 2008 · 8 claims · 6 setups

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  PCDH15 has an updated gene structure with four additional exons beyond the previously reported 35, producing isoforms in four classes with three alternative cytoplasmic domains (CD1, CD2, CD3).

  genomic retina cdna protocadherin str pcr rt-pcr

• Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

  PMID 18449377 · PMC2335123 · Molecular vision · 2008 · 8 claims · 4 setups

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  A nonsense mutation (C475T, P.Q155X) in CRYBB2 causes autosomal dominant progressive polymorphic congenital coronary cataracts in this family

  family genomic clinical microsatellite direct

• A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.

  PMID 18334966 · PMC2268715 · Molecular vision · 2008 · 7 claims · 5 setups

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  A novel 827C>T transition in GJA8 causes a serine-to-phenylalanine substitution (S276F) associated with dominant congenital pulverulent nuclear cataract in this Chinese family.

  lens excised blood wild-type slit-lamp scanning pcr

• Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.

  PMID 18692127 · PMC3341170 · Genomics · 2008 · 8 claims · 7 setups

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  Autozygosity mapping identified a highly significant homozygous region on chromosome 13q14.11-q14.3 (Z/LOD=10.41)

  family p2ry5 affected snp microsatellite sanger

• Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.

  PMID 19890111 · PMC2787406 · The New England journal of medicine · 2009 · 8 claims · 8 setups

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  Homozygous loss-of-function mutations in IL10RA or IL10RB cause severe early-onset enterocolitis

  consanguineous patients ebv-transformed pbmcs genetic-linkage single-nucleotide-polymorphism candidate-gene

• Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

  PMID 19649175 · PMC2718852 · Molecular vision · 2009 · 8 claims · 6 setups

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  A heterozygous missense mutation c.607G>A in exon 6 of CRYBB2, causing p.Val187Met, is the probable causative mutation for congenital nuclear cataract in this family

  genomic basotho pcr restriction secondary

• Human genetics branches out in Barcelona.

  PMID 18710599 · PMC2575509 · Genome biology · 2008 · 8 claims · 8 setups

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  A meta-analysis of three GWAS scans (DIAGRAM) identifies new type 2 diabetes susceptibility loci (JAZF1, CDC123/CAMK1D, ADAMTS9, THADA) with modest individual effect

  patients families lymphoblastoid genome genome-wide gwas genetic