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).

• Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

  PMID 18813951 · PMC4428656 · European journal of pediatrics · 2009 · 7 claims · 6 setups

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  SLC26A4 mutations are the most prevalent cause of syndromic hereditary hearing loss (Pendred syndrome) in Iran

  affected short pcr perchlorate

• Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.

  PMID 35296718 · PMC8927422 · Scientific reports · 2022 · 8 claims · 8 setups

  Has reproduction · 84

  Four FBN1-negative patients from three families with a MASS-like phenotype carry likely pathogenic or uncertain-significance missense variants in the propeptide-coding regions of COL2A1

  blood-derived four patients col2a1 targeted clinical transthoracic

• Sequencing and genotypic analysis of the triosephosphate isomerase (TPI1) locus in a large sample of long-lived Germans.

  PMID 18510744 · PMC2424074 · BMC genetics · 2008 · 7 claims · 4 setups

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  Sequencing the TPI1 locus in 357 German long-lived individuals identified 17 polymorphisms, 15 of which were rare and previously unknown

  blood-derived cohort pcr snplex taqman

• 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

• Alstrom syndrome (OMIM 203800): a case report and literature review.

  PMID 18154657 · PMC2266715 · Orphanet journal of rare diseases · 2007 · 8 claims · 8 setups

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  The proband is a compound heterozygote for two novel ALMS1 mutations, V424I (exon 6) and H3882Y (exon 17), causative for Alstrom syndrome

  genomic healthy proband pcr pcr-rflp plasma

• CHEK2 variants associate with hereditary prostate cancer.

  PMID 14612911 · PMC2394451 · British journal of cancer · 2003 · 8 claims · 6 setups

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  CHEK2 1100delC frameshift mutation is significantly more frequent in Finnish HPC patients than in population controls

  index hpc unselected affected sscp sequencing minisequencing

• Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

  PMID 17764569 · PMC2072945 · BMC medical genetics · 2007 · 7 claims · 4 setups

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  A nonsense mutation in CDK5RAP2 exon 4, correctly designated 246T>A (Y82X), was identified in all four affected individuals of a Pakistani family linked to MCPH3

  pakistani affected unrelated one microsatellite sanger mutation

• A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

  PMID 18958306 · PMC2573734 · Molecular vision · 2008 · 8 claims · 7 setups

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  The disease locus maps to chromosome 3q21-25, linked to markers D3S2322 and D3S1541

  four-generation bfsp2 wild-type microsatellite direct denaturing

• Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

  PMID 20003452 · PMC2801500 · BMC medical genetics · 2009 · 8 claims · 5 setups

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  TCOF1 transcript levels are significantly reduced (~18%) in leucocytes of TCS patients compared to controls

  leucocytes mesenchymal leucocyte real-time direct flow

• A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

  PMID 19710941 · PMC2730747 · Molecular vision · 2009 · 8 claims · 3 setups

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  A novel missense mutation A1274G (Lys322Glu) in exon 10 of OPTN was identified in affected members of the family

  family peripheral patients microsatellite pcr clinical

• Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel.

  PMID 19808432 · PMC2725366 · Circulation. Arrhythmia and electrophysiology · 2008 · 8 claims · 7 setups

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  G1631D causes profound cardiac sodium channel dysfunction: markedly slowed inactivation (~10-fold), increased persistent current, depolarized voltage dependence of activation/inactivation, and slowed recovery from inactivation

  newborn tsa201 perinatal genetic whole-cell single-channel

• A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

  PMID 19753316 · PMC2742643 · Molecular vision · 2009 · 8 claims · 6 setups

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  A novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1 causes disease in family RP19

  affected family rp19 selected genome-wide microsatellite direct

• Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.

  PMID 18834580 · PMC2668603 · American journal of ophthalmology · 2009 · 6 claims · 4 setups

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  A positive response of macular cysts to dorzolamide can occur across all three known mechanisms of retinoschisin dysfunction (absent secretion, decreased expression, non-functional secretion).

  eyes blood-derived ebna xlrs optical genetic transfection

• Pigs in sequence space: a 0.66X coverage pig genome survey based on shotgun sequencing.

  PMID 15885146 · PMC1142312 · BMC genomics · 2005 · 8 claims · 7 setups

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  Pig sequence is closer to human than mouse is, across exons, UTRs, introns, intergenic regions, ultra-conserved elements, and miRNAs

  sus pig concatenated three-species whole-genome repeat comparative

• Evolutionary analysis of the highly dynamic CHEK2 duplicon in anthropoids.

  PMID 18831734 · PMC2566985 · BMC evolutionary biology · 2008 · 8 claims · 6 setups

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  CHEK2 is present as a single copy in New World monkeys, Old World monkeys, and gibbons

  metaphase chek2 blood-derived y-chromosomal comparative phylogenetic inter-species