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 53

System / cell line: genomic ✕ Assay: exon-intron ✕ Clear

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
Molecular cloning, genomic characterization and over-expression of a novel gene, XRRA1, identified from human colorectal cancer cell HCT116Clone2_XRR and macaque testis.

PMID 12908878 · PMC194569 · BMC genomics · 2003 · 8 claims · 7 setups

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XRRA1 is a novel gene down-regulated ~2-fold in XR-resistant HCT116 Clone2_XRR relative to HCT116 Clone10, identified via cDNA microarray

hct116 macaque cos-7 genomic cdna est molecular
Molecular evolution of Cide family proteins: novel domain formation in early vertebrates and the subsequent divergence.

PMID 18500987 · PMC2426694 · BMC evolutionary biology · 2008 · 8 claims · 5 setups

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Sequences homologous to the CIDE-N domain/NCD show a wide phylogenetic distribution, from hydra and sea anemone to mammals, while true Cide proteins are restricted to vertebrates.

organisms cide cideb hmmer tblastn sequence
Computer identification of snoRNA genes using a Mammalian Orthologous Intron Database.

PMID 16093549 · PMC1184218 · Nucleic acids research · 2005 · 8 claims · 5 setups

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Created the Mammalian Orthologous Intron Database (MOID) containing orthologous introns of human, mouse and rat identified via conserved reading-frame position

introns ribosomal rrna comparative orthologous pairwise
Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).

PMID 15890066 · PMC1142516 · BMC medical genetics · 2005 · 7 claims · 3 setups

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Screening of the PITX2 coding region and exon-intron junctions in 96 dTGA patients revealed no stop or frameshift mutations.

genomic pcr denaturing direct
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

PMID 17437275 · PMC2696796 · Human mutation · 2007 · 7 claims · 5 setups

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Four novel pathogenic ZEB1 mutations (two deletions, one nonsense, one duplication, all in exon 7) were identified in four of ten unrelated Czech/British PPCD families

peripheral genomic six individuals sequencing pcr microsatellite
A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups

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A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.

blood-derived patient-derived serum genomic direct rt-pcr gelatin
Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.

PMID 18955805 · PMC2580002 · Journal of Korean medical science · 2008 · 8 claims · 1 setups

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The patient is a compound heterozygote for CFTR mutations c.263T>G (p.Leu88X) in exon 3 and c.2089-2090insA (p.Arg697LysfsX33) in exon 13

peripheral direct
Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

PMID 11991808 · PMC107843 · BMC genetics · 2002 · 6 claims · 5 setups

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The genomic organization of human CCS was characterized, with the 823 bp coding region organized into 8 exons spanning 12798 bp of genomic DNA.

bac heart ccs genomic genomic rt-pcr transcription
Genomic structure and alterations of homeobox gene CDX2 in colorectal carcinomas.

PMID 10027310 · PMC2362430 · British journal of cancer · 1999 · 8 claims · 6 setups

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CDX2 expression is decreased in colorectal carcinomas in prior studies

genomic sporadic hnpcc carcinoma standard pcr-sscp cloning
Phylogenetic variation and polymorphism at the toll-like receptor 4 locus (TLR4).

PMID 11104518 · PMC31919 · Genome biology · 2000 · 7 claims · 7 setups

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The Tlr4 extracellular domain is far more variable than the cytoplasmic domain, both among mouse strains and among species

tlr4 mus chimpanzee baboon genomic coding sequence
Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.

PMID 11454237 · PMC34549 · BMC genetics · 2001 · 6 claims · 4 setups

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The desmuslin (DMN) gene was localized to chromosome 15q26.3 via electronic screening of the human genome database, and its 5-exon genomic organization was determined.

genomic electronic pcr pcr-restriction
The human L-threonine 3-dehydrogenase gene is an expressed pseudogene.

PMID 12361482 · PMC131051 · BMC genetics · 2002 · 8 claims · 7 setups

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The human TDH gene is located at chromosome 8p23-22, spans 10 kb, and has 8 exons that would be expected to encode a 369-residue ORF.

genomic predicted cdna tissues genomic sequence pcr
Mice have a transcribed L-threonine aldolase/GLY1 gene, but the human GLY1 gene is a non-processed pseudogene.

PMID 15757516 · PMC555945 · BMC genomics · 2005 · 8 claims · 8 setups

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Mouse has a transcribed, 7-exon L-threonine aldolase (GLY1) gene on chromosome 11 encoding a 400-residue protein homologous to bacterial threonine aldolase

liver genomic tissues embryos rt-pcr genomic secondary
Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

PMID 18989382 · PMC2579935 · Molecular vision · 2008 · 7 claims · 6 setups

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Missense mutations in CYP1B1 are most likely responsible for PCG in these three Pakistani families

genomic family ethnically affected genotyping two-point sanger
Mutation screening of HSF4 in 150 age-related cataract patients.

PMID 18941546 · PMC2569895 · Molecular vision · 2008 · 8 claims · 4 setups

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Five new HSF4 sequence variants (c.1020-25G>A, c.1078A>G, c.1223C>T, c.1256+25C>T, c.1286C>T) were found in age-related cataract patients but not in 220 controls.

peripheral hsf4b hsf4 genomic secondary sequence
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
Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.

PMID 18400097 · PMC2322962 · BMC medical genetics · 2008 · 7 claims · 5 setups

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A novel heterozygous/homozygous KCNQ1 mutation, T322M (C965T, exon 7), was identified in a Chinese family with both RWS and JLNS

genomic family direct pcr restriction
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
Genomic approaches to the genetics of alcoholism.

PMID 12875046 · PMC6683845 · Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism · 2002 · 8 claims · 4 setups

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Alcoholism is a complex disease that develops from a combination of numerous genetic and environmental factors, unlike single-gene disorders such as cystic fibrosis or Huntington's disease.

specified genomic gene genomic exon

Experiments

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

Molecular cloning, genomic characterization and over-expression of a novel gene, XRRA1, identified from human colorectal cancer cell HCT116Clone2_XRR and macaque testis.

Molecular evolution of Cide family proteins: novel domain formation in early vertebrates and the subsequent divergence.

Computer identification of snoRNA genes using a Mammalian Orthologous Intron Database.

Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

Genomic structure and alterations of homeobox gene CDX2 in colorectal carcinomas.

Phylogenetic variation and polymorphism at the toll-like receptor 4 locus (TLR4).

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.

The human L-threonine 3-dehydrogenase gene is an expressed pseudogene.

Mice have a transcribed L-threonine aldolase/GLY1 gene, but the human GLY1 gene is a non-processed pseudogene.

Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

Mutation screening of HSF4 in 150 age-related cataract patients.

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

Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.

Mutation analysis of the AATF gene in breast cancer families.

Genomic approaches to the genetics of alcoholism.