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 62

System / cell line: acid ✕ Assay: blood ✕ Clear

Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.

PMID 18820594 · PMC2905378 · Pharmacogenetics and genomics · 2008 · 7 claims · 8 setups

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The tRNA-Thr G15927A mutation has a potential modifier role that increases penetrance and expressivity of A1555G-associated deafness.

blood genomic lymphoblastoid same pcr-rflp mitochondrial northern
Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.

PMID 18334962 · PMC2268858 · Molecular vision · 2008 · 8 claims · 4 setups

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Two MYOC sequence variants were identified in Japanese POAG patients: a novel non-synonymous variant p.Gln297His and a previously reported variant p.Ala363Thr.

genomic myoc poag pcr amino clinical
Appearance of E1: A226V mutant Chikungunya virus in Coastal Karnataka, India during 2008 outbreak.

PMID 19857273 · PMC2774687 · Virology journal · 2009 · 7 claims · 5 setups

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E1:A226V mutant CHIKV was present and continued to circulate in the 2008 Coastal Karnataka outbreak

blood serum mosquito partial rt-pcr igm virus
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.

PMID 19786220 · PMC3309400 · Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2009 · 7 claims · 5 setups

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SLC26A4 mutations are highly prevalent in Chinese patients with SNHL and EVA, with mutations found in 100% (32/32) of subjects.

blood-derived subjects mutation pure high-resolution
Mass spectrometry group has mass appeal.

PMID 15598607 · PMC1247668 · Environmental health perspectives · 2004 · 7 claims · 4 setups

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Mass spectrometry can identify proteins and their post-translational modifications with high specificity and sensitivity, making it central to toxicoproteomics.

sf9 experimental general mass proteomics combined
Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults.

PMID 15212689 · PMC441379 · BMC medical genetics · 2004 · 8 claims · 3 setups

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Arg25Pro heterozygous genotype is significantly less frequent in CLP patients (3.3%) than in healthy controls (16.7%)

peripheral genomic platelet-poor real-time sanger enzyme-linked
SNP-VISTA: an interactive SNP visualization tool.

PMID 16336665 · PMC1325058 · BMC bioinformatics · 2005 · 7 claims · 3 setups

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SNP-VISTA is an interactive Java-based visualization tool with two versions, GeneSNP-VISTA and EcoSNP-VISTA, for exploring large-scale SNP datasets

abo homologous acid snp multi-species blast-based
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
Increasing the number of SNP loci does not necessarily improve prediction power at least in the comparison of MTHFR SNP and haplotypes.

PMID 19075497 · PMC4771609 · Journal of epidemiology · 2008 · 7 claims · 6 setups

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Increasing the number of typed SNP loci does not necessarily improve prediction power, at least for the MTHFR gene

healthy genomic genotype trial randomized snp haplotype
Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.

PMID 19065272 · PMC2588657 · PloS one · 2008 · 6 claims · 5 setups

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Heterozygous UCP2 coding variants (parentally inherited) were identified in 2 of 10 CHI patients with no mutations in known CHI genes

peripheral saccharomyces yeast ins-1e dhplc proton western
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups

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TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI

arci unrelated dog direct sequence blast
The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.

PMID 18718264 · PMC3835188 · The Journal of pediatrics · 2008 · 6 claims · 5 setups

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The patient carries two identical homozygous mutations (GC>AA at positions 197/198) in exon 1 of PCFT, causing a premature stop codon (C66X)

parental rfc hela blood genomic [3h]5-methyltetrahydrofolate northern
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

PMID 18546365 · PMC2891192 · Human mutation · 2008 · 8 claims · 4 setups

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POLG mutations cause at least 6 major heterogeneous phenotypes of neurodegenerative mitochondrial disease (MCHS, Alpers syndrome, ANS, MEMSA, arPEO, adPEO)

blood parental model sanger parental microsatellite
The hemolytic and cytolytic activities of Serratia marcescens phospholipase A (PhlA) depend on lysophospholipid production by PhlA.

PMID 20003541 · PMC2800117 · BMC microbiology · 2009 · 8 claims · 8 setups

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S. marcescens possesses a hemolytic factor independent of ShlA, revealed because an shlAB deletion mutant loses contact hemolysis but retains hemolysis on blood agar plates.

marcescens coli his-phla sheep hemolysis contact-dependent functional
Transcriptomic and functional analyses of the piRNA pathway in the Chagas disease vector Rhodnius prolixus.

PMID 30303955 · PMC6179187 · PLoS neglected tropical diseases · 2018 · 7 claims · 6 setups

Has reproduction · 94

Rhodnius prolixus genome harbors four putative piwi orthologs (three piwi genes plus one ago3 ortholog), and core piRNA pathway components are expressed during previtellogenic oogenesis

rhodnius piwi paired-end parental rt-pcr
ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.

PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups

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A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent

genomic red computational abo sequencing blood
Molecular analysis of Plasmodium ovale variants.

PMID 15324543 · PMC3323326 · Emerging infectious diseases · 2004 · 8 claims · 5 setups

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P. ovale isolates separate into two genetically distinct types, classic (Nigerian I/CDC) and variant (LS), consistent across four independent gene loci.

ovale plasmodium pcr first comparative
Hepatitis B virus genotypes circulating in Brazil: molecular characterization of genotype F isolates.

PMID 18036224 · PMC2231365 · BMC microbiology · 2007 · 8 claims · 4 setups

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Genotypes A, D, and F co-circulate in each of the five Brazilian geographic regions, with no other genotypes identified among 303 isolates

serum hbv pcr-rflp nucleotide phylogenetic
Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.

PMID 17653036 · PMC2774456 · Molecular vision · 2007 · 8 claims · 4 setups

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A novel heterozygous mutation (383A>T; D128V) in exon 5 of CRYBB2 cosegregates with congenital cataract in all three affected family members and is absent in unaffected relatives.

genomic pcr-amplified computational pcr restriction pcr-rflp
A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females.

PMID 17554401 · PMC1885554 · International journal of medical sciences · 2007 · 8 claims · 6 setups

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A novel VNTR polymorphism (TTTC repeat) was discovered at -1241 nucleotides in the 5'-flanking region of NPPB, with 8 alleles ranging from 9 to 19 repeats.

genomic plasma serum n=317 pcr-sscp nucleotide genotyping

Experiments

Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.

Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.

Appearance of E1: A226V mutant Chikungunya virus in Coastal Karnataka, India during 2008 outbreak.

Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.

Mass spectrometry group has mass appeal.

Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults.

SNP-VISTA: an interactive SNP visualization tool.

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

Increasing the number of SNP loci does not necessarily improve prediction power at least in the comparison of MTHFR SNP and haplotypes.

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

The hemolytic and cytolytic activities of Serratia marcescens phospholipase A (PhlA) depend on lysophospholipid production by PhlA.

Transcriptomic and functional analyses of the piRNA pathway in the Chagas disease vector Rhodnius prolixus.

ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.

Molecular analysis of Plasmodium ovale variants.

Hepatitis B virus genotypes circulating in Brazil: molecular characterization of genotype F isolates.

Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.

A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females.