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).

• Prediction of Alzheimer's disease-specific phospholipase c gamma-1 SNV by deep learning-based approach for high-throughput screening.

  PMID 33397809 · PMC7826347 · Proceedings of the National Academy of Sciences of the United States of America · 2021 · 8 claims · 7 setups

  Has reproduction · 48

  An AD-specific frameshift single-nucleotide insertion in exon 27 of PLCγ1 substitutes isoleucine 970 to asparagine in the 5xFAD AD mouse model.

  cortex 5xfad forebrain plcγ1 rna-seq rna-seq-based western

• A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).

  PMID 15716625 · PMC2808567 · Journal of Korean medical science · 2005 · 8 claims · 6 setups

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  A 13-year-old boy and five affected relatives across three generations with hypokalemic periodic paralysis carry the R1239G mutation in CACNA1S

  proband cousins mutation serum electrocardiography

• Leveraging human genomic information to identify nonhuman primate sequences for expression array development.

  PMID 16288651 · PMC1314899 · BMC genomics · 2005 · 8 claims · 6 setups

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  Human genomic DNA sequence can be leveraged to obtain 3' end sequence of NHP orthologs, which can then be used to generate NHP oligonucleotide microarrays

  refseq macaca genomic rhesus exon pcr molecular

• 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

• Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.

  PMID 16479084 · PMC2733967 · Journal of Korean medical science · 2006 · 8 claims · 7 setups

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  Two female infants with isolated diffuse mesangial sclerosis (IDMS) and early-onset end-stage renal failure carried heterozygous WT1 mutations (exon 8 366Arg>His; exon 9 396Asp>Tyr)

  genomic kidney blood kidneys direct parental renal

• Comparative genomic analysis and evolution of the T cell receptor loci in the opossum Monodelphis domestica.

  PMID 18312668 · PMC2275272 · BMC genomics · 2008 · 8 claims · 5 setups

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  The conventional TCR loci (TRA/D, TRB, TRG) in opossum are highly conserved in organization and complexity with those of eutherian mammals.

  monodelphis 23-day-old trav trbv comparative rt-pcr phylogenetic

• Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

  PMID 18978956 · PMC2576482 · Molecular vision · 2008 · 7 claims · 6 setups

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  Mutations in GPR143 were identified in each of six Chinese OA1 families, comprising five novel mutations and one previously known mutation (c.353G>A).

  genomic oa1 one gpr143 pcr heteroduplex junction-fragment

• Large-scale analysis of Macaca fascicularis transcripts and inference of genetic divergence between M. fascicularis and M. mulatta.

  PMID 18294402 · PMC2287170 · BMC genomics · 2008 · 8 claims · 6 setups

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  Constructed full-length-enriched cDNA libraries and determined 85,721 EST sequences and 9407 full-insert sequences from cynomolgus macaque brain (7 regions), testis, and liver

  cynomolgus 3-year-old macaque est full-insert oligonucleotide

• Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

  PMID 20023659 · PMC2980844 · Nature genetics · 2010 · 8 claims · 8 setups

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  Mutations in INF2, a formin family actin-regulating protein, cause autosomal dominant focal segmental glomerulosclerosis (FSGS)

  families genes individuals kidney genome-wide sanger resequencing

• Biphasic expression of thyroid hormone receptor TRβ1 in mammalian retina and anterior ocular tissues.

  PMID 37033230 · PMC10076699 · Frontiers in endocrinology · 2023 · 7 claims · 8 setups

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  TRβ1 shows a biphasic, late-peaking expression profile in retina that contrasts with the early embryonic peak of TRβ2

  retina fetal retinal cones rna-seq lacz immunofluorescence