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).

Publications 1.3k Datasets 392.5k Experiments 37

System / cell line: clinical ✕ Assay: point ✕ Clear

SNAP predicts effect of mutations on protein function.

PMID 18757876 · PMC2562009 · Bioinformatics (Oxford, England) · 2008 · 8 claims · 3 setups

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SNAP is a publicly available web-server implementation predicting functional effects (neutral/non-neutral) of single amino acid substitutions.

mutant insulin neural alanine mutation
Detection of point mutations associated with antibiotic resistance in Pseudomonas aeruginosa.

PMID 19656662 · PMC2744841 · International journal of antimicrobial agents · 2009 · 8 claims · 6 setups

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Pyrosequencing™ can substitute for traditional sequencing methods, providing rapid (<1 h) and reliable detection of antibiotic resistance mutations in P. aeruginosa

clinical extracted pcr fluoroquinolone-resistant kirby–bauer multiplex sanger
Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia.

PMID 19120350 · PMC2724897 · British journal of haematology · 2009 · 8 claims · 4 setups

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JAK2 R683 point mutations occur in 18.9% (10/53) of DS ALL cases, confirming the previously reported incidence.

bone remission sanger pyrosequencing paired
Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.

PMID 18580586 · PMC2750842 · Alzheimer disease and associated disorders · 2008 · 8 claims · 8 setups

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The PSEN1 N135S mutation causes EOFAD with an atypical phenotype including spastic dysarthria, limb spasticity, and seizures in addition to typical cognitive deficits

archival medulla cortex hippocampus immunohistochemistry thioflavin-s 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
Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

PMID 18449377 · PMC2335123 · Molecular vision · 2008 · 8 claims · 4 setups

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A nonsense mutation (C475T, P.Q155X) in CRYBB2 causes autosomal dominant progressive polymorphic congenital coronary cataracts in this family

family genomic clinical microsatellite direct
Mutations in dnaA and a cryptic interaction site increase drug resistance in Mycobacterium tuberculosis.

PMID 33253310 · PMC7738170 · PLoS pathogens · 2020 · 7 claims · 8 setups

Has reproduction · 98

Non-synonymous mutations in dnaA are statistically associated with drug resistance (INH, RIF, SM) in clinical M. tuberculosis strains across two independent GWAS cohorts (China and Vietnam)

clinical dnaa isogenic h37rv genome-wide structural deep-sequencing
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

PMID 17480217 · PMC1868705 · BMC medical genetics · 2007 · 8 claims · 7 setups

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The MRX87 disease locus maps to the Xp22-p21 interval, a known hot spot region for mental handicap

peripheral genomic pcr leukocytes two-point direct pcr
A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.

PMID 17392686 · PMC2642918 · Molecular vision · 2007 · 8 claims · 5 setups

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A novel COL1A1 nonsense mutation (Q644X, C2464T in exon 36) causes osteogenesis imperfecta type I in this Chinese family

patients family genomic clinical microsatellite two-point
A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.

PMID 18989381 · PMC2579934 · Molecular vision · 2008 · 8 claims · 5 setups

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Two-point linkage analysis maps this Chinese adPEO family to the PEO1 (Twinkle) locus on chromosome 10q23.3-24.3, with the other three candidate genes excluded.

members family biceps proband two-point direct muscle
Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.

PMID 18615205 · PMC2443751 · Molecular vision · 2008 · 8 claims · 5 setups

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The family's late-onset ectopia lentis and secondary glaucoma phenotype shows genetic linkage to the FBN1 locus on chromosome 15q21.1

family genomic pcr-amplified two-point direct single
Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes.

PMID 16569242 · PMC1444927 · BMC medical genetics · 2006 · 7 claims · 4 setups

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Linkage and haplotype analysis in the South African family are highly suggestive of linkage to the ARVC6 locus on chromosome 10p12-p14

south genomic family genetic direct bioinformatic
A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.

PMID 19014451 · PMC2592245 · BMC medical genetics · 2008 · 7 claims · 4 setups

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A novel nonsense mutation c.1213C>T (p.Arg405X) in exon 11 of HSF4 causes autosomal recessive congenital cataracts in family BUIT-CA01

family genomic pcr genetic direct allele-specific
Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.

PMID 10622534 · PMC5926019 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 3 setups

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Novel somatic point mutations and an in-frame deletion were identified in RET exons 12 and 15 in sporadic MTC

formalin-fixed corresponding sporadic pcr clinical
Abnormalities of the p53 MDM2 and DCC genes in human leiomyosarcomas.

PMID 8198970 · PMC1969417 · British journal of cancer · 1994 · 6 claims · 8 setups

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A significant minority of leiomyosarcomas harbor p53 gene point mutations or deletions

leiomyosarcomas frozen leiomyosarcoma sarcoma sscp direct immunohistochemistry
Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.

PMID 19753314 · PMC2742641 · Molecular vision · 2009 · 8 claims · 8 setups

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Compound heterozygosity for two distinct MFRP mutations (a novel nonsense mutation and a recurrent frameshift mutation) causes the nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen complex in this sibling pair

patients eyes genomic ophthalmological a-mode electroretinogram
MLST clustering of Campylobacter jejuni isolates from patients with gastroenteritis, reactive arthritis and Guillain-Barré syndrome.

PMID 19702866 · PMC3985121 · Journal of applied microbiology · 2010 · 8 claims · 4 setups

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Danish C. jejuni isolates from gastroenteritis, RA and GBS patients are highly genetically diverse, comprising 51 STs within 18 clonal complexes among 122 isolates.

campylobacter concatenated clonal multilocus upgma clonalframe
PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

PMID 16430766 · PMC1434729 · BMC medical genetics · 2006 · 7 claims · 8 setups

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Linkage analysis can pre-select which gene (PKD1 or PKD2) to screen for mutations in ADPKD families with sufficient samples

genomic pcr additional cat linkage direct heteroduplex
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

PMID 15756302 · PMC2673054 · European journal of human genetics : EJHG · 2005 · 8 claims · 4 setups

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COMP mutations were identified in 78% of families referred with PSACH

genomic sequence subset pcr bidirectional sequence
Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota.

PMID 17327828 · PMC2633468 · Molecular vision · 2007 · 6 claims · 5 setups

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AD non-syndromic high-grade myopia in the Hutterite family MYO-101 shows significant linkage to a locus on chromosome 10q21.1

hutterite same pcdh15 genome-wide fine-point candidate

Experiments

SNAP predicts effect of mutations on protein function.

Detection of point mutations associated with antibiotic resistance in Pseudomonas aeruginosa.

Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia.

Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.

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

Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

Mutations in dnaA and a cryptic interaction site increase drug resistance in Mycobacterium tuberculosis.

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.

A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.

Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.

Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes.

A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.

Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.

Abnormalities of the p53 MDM2 and DCC genes in human leiomyosarcomas.

Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.

MLST clustering of Campylobacter jejuni isolates from patients with gastroenteritis, reactive arthritis and Guillain-Barré syndrome.

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota.