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).

• p53 gene mutations associated with anaplastic transformation of human thyroid carcinomas.

  PMID 1483945 · PMC5918745 · Japanese journal of cancer research : Gann · 1992 · 6 claims · 4 setups

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  p53 gene mutations were found in 2 of 9 anaplastic thyroid carcinomas by RNase protection analysis and confirmed by DNA sequencing

  anaplastic genomic coexisting rnase pcr sequencing

• A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance.

  PMID 17596672 · PMC2693656 · Journal of Korean medical science · 2007 · 7 claims · 8 setups

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  Two members of a Korean family (mother and son) with generalized RTH harbor a novel insertion mutation, 1358_1359insC, in exon 10 of the THRB gene, causing a frameshift (Leu454PhefsX11)

  peripheral serum thyroid pcr radioimmunoassay thyroid

• Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

  PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups

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  GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.

  palestinian genomic probands lymphoblasts targeted sanger pcr

• Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

  PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups

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  Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).

  genomic frozen skeletal korean direct rt-pcr-based pcr-restriction

• Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma.

  PMID 16707008 · PMC1483898 · BMC cancer · 2006 · 6 claims · 4 setups

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  Somatic VHL gene alterations (LOH and mutation) may contribute to pathogenesis of MEN2A-associated MTC, similar to their role in MEN2 pheochromocytoma

  microdissected same genomic frozen microsatellite loss vhl

• Resistance to thyroid hormone with missense mutation (V349M) in the thyroid hormone receptor beta gene.

  PMID 18363280 · PMC2686955 · The Korean journal of internal medicine · 2008 · 8 claims · 7 setups

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  The patient's resistance to thyroid hormone (RTH) was caused by a novel missense mutation (V349M, c.1045G>A) in exon 11 of the TRβ gene, the first such case reported in Korea.

  serum pituitary-thyroid thyroid sellar thyroid trh magnetic

• Large-scale analysis of mutations in RET exon 16 in sporadic medullary thyroid carcinomas in Japan.

  PMID 11429053 · PMC5926749 · Japanese journal of cancer research : Gann · 2001 · 5 claims · 4 setups

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  RET exon 16 (codon 918) somatic mutations are rare in sporadic MTC among Japanese patients

  paraffin-embedded genomic direct pcr-rflp nested

• Editing of hnRNP K protein mRNA in colorectal adenocarcinoma and surrounding mucosa.

  PMID 16404425 · PMC2361188 · British journal of cancer · 2006 · 7 claims · 8 setups

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  A G274A base substitution in hnRNP K mRNA is present in colorectal tumours and surrounding mucosa but absent from corresponding genomic DNA, indicating an RNA editing event rather than a germline polymorphism.

  colorectal cdna matched thyroid rt-pcr restriction genomic

• Positive selection for the male functionality of a co-retroposed gene in the hominoids.

  PMID 19832993 · PMC2773790 · BMC evolutionary biology · 2009 · 8 claims · 8 setups

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  PIPSL is an extraordinary co-retroposed protein-coding gene that may participate in male-specific functions of humans and close relatives

  african chimpanzee orangutan reconstructed population hka comparative

• Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.

  PMID 18797263 · PMC4867177 · Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology · 2008 · 8 claims · 8 setups

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  A patient with the PS-1 G206A mutation developed prominent extrapyramidal signs (EPS) shortly after starting the atypical neuroleptic risperidone, which resolved completely after the drug was discontinued.

  cerebrospinal genomic brain blood elisa genetic apoe