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 24

System / cell line: membrane ✕ Assay: mutation ✕ Clear

Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

PMID 18951463 · PMC2785447 · Human mutation · 2008 · 5 claims · 5 setups

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R1070P and R1070W CFTR mutants show apical membrane localization/insertion defects consistent with their associated disease severity

polarized mdck mdck-cftr patients confocal surface western
Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.

PMID 18174378 · PMC2605348 · Blood · 2008 · 7 claims · 8 setups

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Homozygous SLC4A1 Ser667Phe mutation causes both hereditary spherocytosis and incomplete distal renal tubular acidosis in the proband

erythrocyte genomic erythrocytes xenopus sds-page sscp dids
Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease.

PMID 8879195 · PMC2192830 · The Journal of experimental medicine · 1996 · 6 claims · 8 setups

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The patient is a compound heterozygote for a p67-phox gene mutation: an in-frame deletion of lysine 58 on one allele and an 11-13 kb genomic deletion on the other allele.

granulocytes granulocyte mononuclear leukocyte nbt cell-free western
beta- Catenin mutations and aberrant nuclear expression during endometrial tumorigenesis.

PMID 11161379 · PMC2363713 · British journal of cancer · 2001 · 7 claims · 4 setups

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Cell membrane β-catenin immunoreactivity shows a stepwise decrease from normal endometrium, through atypical hyperplasia, to grade 3 carcinoma.

endometrial immunohistochemistry rt-pcr pcr
A restricted spectrum of NRAS mutations causes Noonan syndrome.

PMID 19966803 · PMC3118669 · Nature genetics · 2010 · 8 claims · 6 setups

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Germline NRAS mutations (T50I, G60E) cause a subset of Noonan syndrome cases via enhanced MAPK activation

cohort cos-7 recombinant nras mutation western ras
Mathematical models in mammalian cell biology.

PMID 18638360 · PMC2530880 · Genome biology · 2008 · 8 claims · 8 setups

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A point mutation in the circadian Per2 gene causes familial advanced sleep phase syndrome (FASPS) via a phosphorylation defect that alters PER2 stability and subcellular localization.

culture skin hela mammalian live-cell confocal phosphoprotein
B lymphocyte involvement in ankylosing spondylitis: the heavy chain variable segment gene repertoire of B lymphocytes from germinal center-like foci in the synovial membrane indicates antigen selection.

PMID 11299060 · PMC30712 · Arthritis research · 2001 · 8 claims · 4 setups

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70 rearranged heavy chain VH genes from AS synovial membrane were characterized; 59 were potentially functional

frozen lymphocytes microdissected pcr double microdissection semi-nested
Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.

PMID 15665393 · PMC3839340 · Disease markers · 2004 · 8 claims · 4 setups

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An intron-5/exon-6 splice acceptor mutation in TGM1, detectable by MspI digestion, was identified in two Egyptian families at a frequency of 9.6% (5/52 alleles)

genomic arci pcr clinical pedigree
A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.

PMID 18706439 · PMC2584361 · Vision research · 2008 · 8 claims · 7 setups

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A novel N104K mutation in GCAP1's third EF-hand (EF3) motif was identified in two affected members of a family with autosomal dominant cone dystrophy, the first naturally occurring mutation in the EF3 Ca2+-binding loop.

genomic patients high recombinant pcr full-field paired-flash
Ankyrin-linked hereditary spherocytosis in an African-American kindred.

PMID 18704959 · PMC11304496 · American journal of hematology · 2008 · 6 claims · 7 setups

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A novel heterozygous initiator methionine mutation (ATG→ATA, Met1Ile), termed ankyrin New Haven, was identified in exon 1 of the ankyrin-1 gene as the cause of HS in this kindred.

genomic erythrocyte rabbit dhplc sscp nucleotide
Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.

PMID 19753315 · PMC2742642 · Molecular vision · 2009 · 8 claims · 5 setups

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Wild-type HA-tagged CLRN1 is correctly trafficked to the plasma membrane in transfected BHK-21 cells

bhk-21 genomic ush confocal western cycloheximide
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
Molecular dynamics and mutational analysis of a channelopathy mutation in the IIS6 helix of Ca V 1.2.

PMID 18836301 · PMC3196984 · Channels (Austin, Tex.) · 2008 · 8 claims · 4 setups

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I781T in CaV1.2 shifts the voltage-dependence of activation and inactivation to hyperpolarized voltages, reproducing the channelopathy-like gating phenotype of CaV1.4 I745T

homology tsa-201 cav1.2 molecular whole-cell confocal
Nuclear beta-catenin expression is closely related to ulcerative growth of colorectal carcinoma.

PMID 11953860 · PMC2364167 · British journal of cancer · 2002 · 7 claims · 5 setups

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Nuclear β-catenin expression is significantly associated with ulcerative growth of colorectal cancer

sporadic same genomic immunohistochemistry truncation single-strand
Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer.

PMID 10584868 · PMC2374316 · British journal of cancer · 1999 · 8 claims · 5 setups

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LOH at chromosome 16q21-q22.1 occurs in 100% of informative lobular breast tumours, the highest frequency of any region tested

lobular pcr loh loh pcr-sscp sequencing
The diagnosis and management of pre-invasive breast disease: promise of new technologies in understanding pre-invasive breast lesions.

PMID 14580250 · PMC314415 · Breast cancer research : BCR · 2003 · 8 claims · 8 setups

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ADH and ductal carcinoma in situ (DCIS) are precursor lesions molecularly similar to adjacent invasive breast cancer

locally adh brca1 malignant array chromosome-based cdna
Improvements to cardiovascular gene ontology.

PMID 19046747 · PMC2706316 · Atherosclerosis · 2009 · 8 claims · 8 setups

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Gene Ontology (GO) provides a controlled vocabulary that links current functional knowledge of genes to high-throughput genomic and proteomic datasets, aiding data interpretation.

coronary phospholamban mammalian lines gene expression large-scale
Genetic analysis of pathways regulated by the von Hippel-Lindau tumor suppressor in Caenorhabditis elegans.

PMID 15361934 · PMC515368 · PLoS biology · 2004 · 7 claims · 8 setups

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The HIF-1/VHL-1/EGL-9 hydroxylase pathway is tightly conserved in C. elegans

elegans whole-genome rnase pharmacological
'Classical' but not 'other' mutations of EGFR kinase domain are associated with clinical outcome in gefitinib-treated patients with non-small cell lung cancer.

PMID 18000506 · PMC2360265 · British journal of cancer · 2007 · 8 claims · 4 setups

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'Classical' EGFR mutations (exon 18 G719X, exon 19 DEL19, exon 21 L858R) are associated with better clinical outcome (disease control) with gefitinib

microdissected genomic ffpe advanced direct nested immunohistochemistry
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

Experiments

Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.

Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease.

beta- Catenin mutations and aberrant nuclear expression during endometrial tumorigenesis.

A restricted spectrum of NRAS mutations causes Noonan syndrome.

Mathematical models in mammalian cell biology.

B lymphocyte involvement in ankylosing spondylitis: the heavy chain variable segment gene repertoire of B lymphocytes from germinal center-like foci in the synovial membrane indicates antigen selection.

Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.

A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.

Ankyrin-linked hereditary spherocytosis in an African-American kindred.

Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.

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

Molecular dynamics and mutational analysis of a channelopathy mutation in the IIS6 helix of Ca V 1.2.

Nuclear beta-catenin expression is closely related to ulcerative growth of colorectal carcinoma.

Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer.

The diagnosis and management of pre-invasive breast disease: promise of new technologies in understanding pre-invasive breast lesions.

Improvements to cardiovascular gene ontology.

Genetic analysis of pathways regulated by the von Hippel-Lindau tumor suppressor in Caenorhabditis elegans.

'Classical' but not 'other' mutations of EGFR kinase domain are associated with clinical outcome in gefitinib-treated patients with non-small cell lung cancer.

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