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).

• Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.

  PMID 18397877 · PMC2427143 · Human molecular genetics · 2008 · 8 claims · 8 setups

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  All six somatic TSC1 missense mutations found in bladder tumours cause loss of TSC1 function, but via distinct molecular mechanisms.

  hcv29 lines tsc1 bladder immunoblotting real-time co-immunoprecipitation

• Analysis of X chromosome inactivation in autism spectrum disorders.

  PMID 18361425 · PMC4867005 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 6 claims · 5 setups

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  No significant excess of skewed XCI was found in mothers of children with ASD or in affected girls compared to controls

  genomic multiplex mecp2 four chromosome non-parametric mutation

• A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.

  PMID 18334930 · PMC2255027 · Molecular vision · 2008 · 7 claims · 5 setups

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  A novel heterozygous de novo PAX6 frameshift mutation (c.577_578insG, insG@Gly72) in exon 6 causes autosomal dominant aniridia with congenital cataract, nystagmus, and glaucoma in this family.

  genomic pax6 direct microsatellite blast

• Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.

  PMID 18302774 · PMC2266716 · BMC medical genetics · 2008 · 8 claims · 4 setups

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  The SNF2L gene spans 77 kb and is encoded by 25 exons that undergo alternative splicing to generate multiple distinct transcripts.

  lines genomic 293hek rt-pcr genomic indirect

• 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

• BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

  PMID 18234728 · PMC2564862 · Journal of medical genetics · 2008 · 8 claims · 7 setups

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  BHD germline mutation detection rate was 88% (51/58 families) using direct DNA sequencing

  peripheral blood-derived folliculin chest direct subcloning sequence

• Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

  PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups

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  Mutations in GLE1, an mRNA export mediator, cause LCCS1

  lccs1 laahd finnish healthy genomic microsatellite carrier

• Mutation analysis of the AATF gene in breast cancer families.

  PMID 20025740 · PMC2806411 · BMC cancer · 2009 · 6 claims · 6 setups

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  No AATF sequence alteration identified was predicted to be pathogenic or showed significant association with breast cancer risk

  genomic showing aatf case conformation direct pathogenicity

• A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

  PMID 20019893 · PMC2794658 · Molecular vision · 2009 · 7 claims · 7 setups

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  A novel missense mutation c.92T>C (p.I31T) in GJA8 causes autosomal dominant congenital nuclear cataract in this Chinese family

  family genomic unrelated gja8 clinical microsatellite sequencing

• Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.

  PMID 20017903 · PMC2803168 · BMC medical genetics · 2009 · 6 claims · 5 setups

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  Only three nucleotide variations in ITGB1BP2 were found among 928 screened subjects, indicating a high degree of conservation of the gene in the populations analyzed

  genomic hela itgb1bp2 melusin direct minigene in-silico

• Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.

  PMID 20009079 · PMC2810855 · Circulation. Arrhythmia and electrophysiology · 2009 · 7 claims · 5 setups

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  Six rare SNTA1 missense mutations (G54R, P56S, T262P, S287R, T372M, G460S) were identified in 8 of 292 (2.7%) SIDS cases, absent from 800 reference alleles

  sids hek293 pcr whole-cell

• H-DBAS: human-transcriptome database for alternative splicing: update 2010.

  PMID 19969536 · PMC2808982 · Nucleic acids research · 2010 · 8 claims · 4 setups

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  RNA-Seq tags from the polysome fraction identify AS exons that are very likely used for protein synthesis

  dld-1 rna-seq western real-time

• Sequences of complete human cytomegalovirus genomes from infected cell cultures and clinical specimens.

  PMID 19906940 · PMC2885759 · The Journal of general virology · 2010 · 8 claims · 5 setups

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  Both PCR sequencing and IGA sequencing (via de novo assembly guiding reference-dependent assembly plus PCR finishing) can successfully generate complete HCMV genome sequences from infected cell cultures and clinical specimens

  hcmv six pcr illumina reference-dependent

• Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.

  PMID 19858129 · PMC3030964 · Journal of medical genetics · 2010 · 7 claims · 5 setups

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  Two unrelated PHP-I families each include at least one patient with a Gsα coding mutation (PHP-Ia) and another with GNAS imprinting defects (PHP-Ib)

  genomic erythrocyte gnas sanger methylation-specific microsatellite

• High resolution analysis of the human transcriptome: detection of extensive alternative splicing independent of transcriptional activity.

  PMID 19804644 · PMC2768739 · BMC genetics · 2009 · 8 claims · 6 setups

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  The human GWSA uses exon body and exon-exon junction probes to directly measure over 280,000 known and predicted splicing events genome-wide.

  universal same lim erythrocyte genome-wide cross-platform rt-pcr

• Alzheimer's disease biomarker discovery in symptomatic and asymptomatic patients: experimental approaches and future clinical applications.

  PMID 19796674 · PMC2840994 · Experimental gerontology · 2010 · 8 claims · 4 setups

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  cDNA microarray screening of 6794 genes identified 32 genes aberrantly expressed (>1.8-fold) in the superior temporal gyrus of moderate dementia cases versus cognitively normal controls

  post-mortem cortico-hippocampal cdna western culture

• Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.

  PMID 19765279 · PMC2760583 · BMC genomics · 2009 · 8 claims · 5 setups

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  Global microarray profiling reveals 421 genes differentially expressed in DBA patient fibroblasts compared to healthy controls

  dermal same fibroblasts analysis microarray quantitative rt-pcr

• Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

  PMID 19755480 · PMC4306717 · The Journal of clinical endocrinology and metabolism · 2009 · 8 claims · 4 setups

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  Homozygosity for a novel TACR3 His148Leu mutation causes normosmic isolated hypogonadotropic hypogonadism (nIHH) in three siblings

  blood hek293a bosc serum sanger calcium confocal

• Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.

  PMID 19744353 · PMC2749023 · BMC medical genetics · 2009 · 8 claims · 6 setups

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  Gross mutations (exon deletions and intragenic insertions) are a frequent, not rare, cause of AOA2

  genomic peripheral setx sanger dosage long-range

• Lightweight genome viewer: portable software for browsing genomics data in its chromosomal context.

  PMID 17877794 · PMC2238324 · BMC bioinformatics · 2007 · 7 claims · 7 setups

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  lwgv provides a lightweight alternative to large genome browsers for visualizing biological annotations and dynamic analyses without requiring a database or complex software infrastructure

  chromosome user-submitted hannon-elledge gene linkage rnai shrna