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).

• Tailoring communication in consultations with women from high risk breast cancer families.

  PMID 12189544 · PMC2376156 · British journal of cancer · 2002 · 8 claims · 5 setups

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  Patient demographics were more likely to predict consultants' communication behaviours than the woman's psychological status

  women genetic affected self-report audiotaped 8-item

• 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

• Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

  PMID 19112530 · PMC2610289 · Molecular vision · 2008 · 8 claims · 5 setups

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  Two novel heterozygous OPA1 mutations were identified: a splice-site mutation c.985-2A>G in family F1 and a nonsense mutation c.2197C>T (p.R733X) in family F2

  genomic available leukocytes affected linkage pcr single

• Microglia-containing cerebral organoids derived from induced pluripotent stem cells for the study of neurological diseases.

  PMID 36936782 · PMC10014280 · iScience · 2023 · 8 claims · 8 setups

  Has reproduction · 74

  A novel protocol using FGF/EGF/heparin growth factor supplementation and 10% CO2 culture generates cerebral organoids containing neurons, astrocytes, and microglia from iPSCs/hESCs

  hesc-derived hesc als-pdc-affected cerebral microarray immunostaining bulk

• Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

  PMID 17076561 · PMC1626556 · PLoS medicine · 2006 · 6 claims · 7 setups

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  Affected members of a previously genetically unsolved aHUS family carry a heterozygous CFH/CFHL1 hybrid gene (exons 1-21 from CFH, exons 22/23 from CFHL1)

  peripheral genomic convalescent cdna genomic breakpoint-spanning

• 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

• A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

  PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups

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  A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.

  blood-derived patient-derived serum genomic direct rt-pcr gelatin

• 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

• Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.

  PMID 18334959 · PMC2268850 · Molecular vision · 2008 · 7 claims · 5 setups

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  A homozygous c.955G>A mutation at the last base of exon 6 of LCA5 disrupts the normal splice donor site.

  genomic lca5 lymphocyte affected snp sanger splice

• Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

  PMID 19917957 · PMC2935681 · Archives of dermatology · 2009 · 8 claims · 4 setups

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  The clinical distinction between FC, BSS, and MFT has little prognostic or clinical utility, even within the same family, warranting a unifying diagnosis of 'CYLD cutaneous syndrome'.

  blood-derived individuals patients excised genomic structured tumor

• A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.

  PMID 19038017 · PMC2611973 · BMC medical genetics · 2008 · 6 claims · 3 setups

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  A novel 4-base insertion mutation (1114insGAGT) in exon 2 of CDMP1 underlies Grebe-type chondrodysplasia in this Pakistani family

  peripheral genomic microsatellite direct mutation

• 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

• 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

• A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.

  PMID 19674475 · PMC2736932 · BMC medical genetics · 2009 · 7 claims · 3 setups

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  A Pakistani consanguineous family with three pycnodysostosis-affected individuals shows genetic linkage to the CTSK locus on chromosome 1q21

  pakistani genomic microsatellite pcr acii

• An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.

  PMID 18615206 · PMC2443752 · Molecular vision · 2008 · 7 claims · 2 setups

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  A heterozygous R124C (C417T) mutation in TGFBI was detected in all affected individuals across three unrelated Chinese pedigrees with LCD I.

  patients genomic slit pcr

• Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.

  PMID 17653036 · PMC2774456 · Molecular vision · 2007 · 8 claims · 4 setups

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  A novel heterozygous mutation (383A>T; D128V) in exon 5 of CRYBB2 cosegregates with congenital cataract in all three affected family members and is absent in unaffected relatives.

  genomic pcr-amplified computational pcr restriction pcr-rflp

• A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.

  PMID 17517145 · PMC1890544 · BMC medical genetics · 2007 · 7 claims · 6 setups

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  A novel heterozygous missense mutation Y669H (2005T>C) in exon 8 of WFS1 was identified in affected family members but not in 100 controls (200 chromosomes)

  family genomic 10-member wfs1 pure direct pcr-rflp

• A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.

  PMID 18618005 · PMC2447816 · Molecular vision · 2008 · 6 claims · 4 setups

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  A heterozygous c.327C>A transversion in exon 3 of CRYGC causes a nonsense mutation (C109X) that cosegregates with autosomal dominant congenital nuclear cataract in a Chinese family.

  genomic type family γc-crystallin pcr comparative clinical

• 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