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 5

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

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

PMID 19941982 · PMC4354948 · European journal of medical genetics · 2010 · 8 claims · 5 setups

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Three Hispanic families from Mexico with novel FBN1 mutations show cardiovascular and ocular manifestations of MFS but a paucity of skeletal manifestations.

hispanic hmfs001 family genomic clinical echocardiography ophthalmologic
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
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

PMID 19093007 · PMC2603185 · Molecular vision · 2008 · 7 claims · 5 setups

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A novel mutation (1666 A>G, exon 15, S556R) in BBS7 causes BBS in this Chinese family

at-risk eyes blood bbs7 clinical ophthalmologic genetic
Magnetization transfer imaging in 'premanifest' Huntington's disease.

PMID 19823894 · PMC2837878 · Journal of neurology · 2010 · 8 claims · 4 setups

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MTI parameters (mean MTR and normalized peak height) of whole brain, grey matter and white matter did not differ significantly between premanifest HD carriers and non-carriers

premanifest magnetization 3d-t1-weighted clinical
CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.

PMID 18725978 · PMC2518116 · PloS one · 2008 · 7 claims · 6 setups

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TP53 mutations, especially those affecting the L2/L3 DNA-binding domains, are associated with resistance (progressive disease) to epirubicin therapy

snap-frozen tumor u-2-os patients pcr bisulphite loss

Experiments

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

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

A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

Magnetization transfer imaging in 'premanifest' Huntington's disease.

CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.