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).

• Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.

  PMID 12839625 · PMC166146 · BMC neurology · 2003 · 8 claims · 7 setups

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  The patient is a compound heterozygote with a different splicing mutation in each Perlecan allele, causing a significant reduction in production of the normal (wild-type) protein.

  8-year-old muscle lower skeletal molecular immunostaining electromyogram

• Comprehensive splice-site analysis using comparative genomics.

  PMID 16914448 · PMC1557818 · Nucleic acids research · 2006 · 8 claims · 6 setups

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  Over half a million splice sites were collected from five species (H. sapiens, M. musculus, D. melanogaster, C. elegans, A. thaliana) and classified into four main subtypes: U2-type GT-AG and GC-AG, and U12-type GT-AG and AT-AC.

  refseq u2-type genes comparative information phylogenetic

• TassDB: a database of alternative tandem splice sites.

  PMID 17142241 · PMC1669710 · Nucleic acids research · 2007 · 7 claims · 3 setups

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  TassDB is a relational database storing GYNGYN donor and NAGNAG acceptor tandem splice sites across eight species

  homo computational nagnag est maximum snp

• Modification of the Creator recombination system for proteomics applications--improved expression by addition of splice sites.

  PMID 16519801 · PMC1421398 · BMC biotechnology · 2006 · 8 claims · 8 setups

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  The Creator Splice system (5' intron splicing) significantly increases protein expression levels compared to the standard Creator system

  hek293t mammalian coli vector immunoblot fluorescence bacterial

• A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.

  PMID 18432314 · PMC2329669 · Molecular vision · 2008 · 6 claims · 5 setups

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  A novel homozygous splice-site mutation, c.1495+2_1495+3insT, in the donor splice-site of TULP1 intron 14 underlies autosomal recessive early-onset RP in family TB13.

  genomic tulp1 y79 haplotype direct mismatch-primer

• Does distance matter? Variations in alternative 3' splicing regulation.

  PMID 17704130 · PMC2018619 · Nucleic acids research · 2007 · 8 claims · 7 setups

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  Alternative 3' splice sites can be distinguished from constitutive splice sites by a combination of sequence/conservation properties that vary depending on the distance between the splice sites.

  intronic human-mouse same comparative polypyrimidine branch

• 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

• Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.

  PMID 16507150 · PMC1413975 · Breast cancer research : BCR · 2006 · 6 claims · 7 setups

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  kConFab is a collaborative resource providing epidemiological, clinical, and biospecimen data from high-risk familial breast/ovarian cancer families, available to researchers worldwide for ethically approved, peer-reviewed projects.

  germline unaffected index randomly brca1 tyrer-cuzick strp

• Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor.

  PMID 18718804 · PMC2877193 · Parkinsonism & related disorders · 2009 · 7 claims · 6 setups

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  Mutations in the coding sequence and splice sites of human SCN8A do not appear to be a common cause of autosomal dominant essential tremor in Caucasian patients.

  genomic neurologically ethnically scn8a heteroduplex pcr snp

• In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.

  PMID 17726045 · PMC2094079 · Nucleic acids research · 2007 · 8 claims · 6 setups

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  Two exonic mutations, PINK1 E417G and PARK7 E64D, disrupt binding to U1 snRNA and cause skipping of the mutation-harboring exon

  hek293 genome lymphocytes minigene artificial genome-wide

• Genome-wide survey of allele-specific splicing in humans.

  PMID 18518984 · PMC2427040 · BMC genomics · 2008 · 8 claims · 5 setups

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  A genome-wide computational scan identified 30,977 SNPs located within predicted splicing regulatory sequences (donor sites, acceptor sites, branch points, and ESEs)

  genome cdna hapmap computational est exon

• Prediction and assessment of splicing alterations: implications for clinical testing.

  PMID 18951448 · PMC2832470 · Human mutation · 2008 · 8 claims · 5 setups

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  Bioinformatic prediction alone is insufficient; in vitro analysis is needed to confirm or establish splicing aberrations for clinical variant classification

  brca1 lymphocytes mammalian large bioinformatic cycloheximide mini-gene

• Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

  PMID 16405730 · PMC1343542 · BMC medical genetics · 2006 · 8 claims · 4 setups

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  Germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma

  peripheral genomic ebv-transformed conformation pira-pcr rt-pcr

• Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

  PMID 19862842 · PMC2830005 · Human mutation · 2009 · 8 claims · 6 setups

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  Mutations in HGD, which encodes homogentisate dioxygenase, cause AKU by blocking conversion of homogentisic acid to maleylacetoacetic acid in the tyrosine catabolic pathway

  aku hgd recombinant hgd missense splice

• Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations.

  PMID 8613431 · PMC5921088 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 4 setups

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  hMSH2 germline mutations were detected in 5 of 36 Japanese HNPCC kindreds (14%)

  peripheral tumor sscp somatic loss

• A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.

  PMID 16968799 · PMC1865483 · The Journal of clinical endocrinology and metabolism · 2006 · 7 claims · 8 setups

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  A homozygous R262Q GNRHR mutation was identified in two brothers from an Asian Indian family, one of 11 families studied with delayed puberty or discordant IHH/delayed puberty siblings.

  blood serum younger brothers mutational hormone 24-hour

• Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.

  PMID 17940071 · PMC2990861 · Human reproduction (Oxford, England) · 2007 · 8 claims · 7 setups

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  A novel heterozygous V355M missense mutation in SF1 was identified in one boy with micropenis and testicular regression syndrome (bilateral anorchia)

  peripheral tsa201 tm3 cho sanger transient mammalian

• Mutation analysis of the MDM4 gene in German breast cancer patients.

  PMID 18279506 · PMC2259322 · BMC cancer · 2008 · 8 claims · 8 setups

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  Resequencing of the whole MDM4 coding region in 40 German familial breast cancer patients uncovered two coding variants (V74V and D153G) in 4/40 patients

  german bilateral mdm4 lymphoid direct rflp-based splice

• Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

  PMID 10920277 · PMC5926416 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups

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  Sequencing of all PTEN/MMAC1 coding regions identified five different germline mutations, four of them novel, in 5 of 12 unrelated Japanese CD patients

  genomic unaffected pcr targeted restriction

• 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