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: family ✕ Assay: response ✕ Clear

Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.

PMID 18834580 · PMC2668603 · American journal of ophthalmology · 2009 · 6 claims · 4 setups

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A positive response of macular cysts to dorzolamide can occur across all three known mechanisms of retinoschisin dysfunction (absent secretion, decreased expression, non-functional secretion).

eyes blood-derived ebna xlrs optical genetic transfection
A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings.

PMID 18518985 · PMC2435521 · BMC medical genetics · 2008 · 7 claims · 6 setups

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A novel heterozygous WFS1 mutation c.2054G>C (p.R685P) segregates faithfully with dominant LFSNHL in an American family

family wolframin pure-tone vestibular electrocochleography
Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study.

PMID 18625075 · PMC2478679 · BMC medical genetics · 2008 · 7 claims · 5 setups

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A synonymous coding SNP (rs2099489) in CHRNG is associated with higher systolic blood pressure in both the Old Order Amish (AFDS) and the Framingham Heart Study

amish non-first-degree-relative afds framingham variance direct snp
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

PMID 18616530 · PMC4732719 · Clinical genetics · 2008 · 8 claims · 8 setups

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TMC1 mutations were identified in seven of the families/patients segregating hearing loss linked to DFNA36/DFNB7-11

families affected tmc1 tjp2 genetic sequencing multiplex
A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).

PMID 15716625 · PMC2808567 · Journal of Korean medical science · 2005 · 8 claims · 6 setups

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A 13-year-old boy and five affected relatives across three generations with hypokalemic periodic paralysis carry the R1239G mutation in CACNA1S

proband cousins mutation serum electrocardiography
Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

PMID 18728755 · PMC2519029 · Molecular vision · 2008 · 8 claims · 5 setups

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Male patients exhibit typical bilateral foveal retinoschisis in two retinal layers detected by OCT

retina genomic rs1 optical full-field multifocal
Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.

PMID 18424448 · PMC2465798 · Human molecular genetics · 2008 · 8 claims · 8 setups

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Genotype CC (rs2234693/PvuII) and C-allele-containing haplotypes in ESR1 intron 1 are more frequent in African American schizophrenics than controls

genomic postmortem nimhgi esr1 targeted case-control family-based
Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

PMID 19755480 · PMC4306717 · The Journal of clinical endocrinology and metabolism · 2009 · 8 claims · 4 setups

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Homozygosity for a novel TACR3 His148Leu mutation causes normosmic isolated hypogonadotropic hypogonadism (nIHH) in three siblings

blood hek293a bosc serum sanger calcium confocal
Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation.

PMID 18997096 · PMC4836613 · Investigative ophthalmology & visual science · 2009 · 7 claims · 8 setups

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High T8993C mutant load (>77%) is associated with severe neurologic and/or retinal abnormalities, while low mutant load (42-54%) causes no detectable abnormalities.

retina blood visual adaptive real-time genetic
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

PMID 19753316 · PMC2742643 · Molecular vision · 2009 · 8 claims · 6 setups

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A novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1 causes disease in family RP19

affected family rp19 selected genome-wide microsatellite direct
Integrative analyses reveal signaling pathways underlying familial breast cancer susceptibility.

PMID 26969729 · PMC4812528 · Molecular systems biology · 2016 · 7 claims · 6 setups

Has reproduction · 67

Cell adhesion (cell-cell and cell-ECM) pathways are significantly and consistently dysregulated in women who develop familial breast cancer across multiple omic data types and tissues.

peripheral pbmcs normal snap-frozen gene exome western
Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

PMID 19718270 · PMC2732717 · Molecular vision · 2009 · 7 claims · 6 setups

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A novel homozygous frameshift insertion in PROM1 (c.1349insT) causes cone-rod dystrophy with high myopia in this consanguineous family

patients genomic chromosomes clinical fluorescein full-field
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
Genetics and proteomics: deciphering gene association studies in critical illness.

PMID 16934133 · PMC1750993 · Critical care (London, England) · 2006 · 8 claims · 8 setups

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Most critical illnesses are complex traits (multifactorial), unlike single-gene Mendelian diseases.

severe families caucasian tnf genetic linkage microarray
PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

PMID 20003494 · PMC2806404 · Journal of negative results in biomedicine · 2009 · 8 claims · 6 setups

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None of the detected PALB2 variants, including 1592delT, show significant association with PRCA at the population level in Finland

blood finnish combined formalin-fixed direct additional statistical
Mutations in NYX of individuals with high myopia, but without night blindness.

PMID 17392683 · PMC2642916 · Molecular vision · 2007 · 7 claims · 5 setups

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Two novel NYX missense mutations (Cys48Trp and Arg191Gln) were found in unrelated males with high myopia but no night blindness.

unrelated individuals high model direct sequencing electroretinogram
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

PMID 19093009 · PMC2603250 · Molecular vision · 2008 · 8 claims · 6 setups

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OCT detects foveal and lamellar macular retinoschisis more frequently than funduscopy alone

xlrs genomic optical full-field multifocal
Advances in breast cancer: pathways to personalized medicine.

PMID 19088015 · PMC4535810 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 8 claims · 8 setups

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Germline BRCA1/BRCA2 mutations are strong predictors of breast and ovarian cancer, conferring a 40-80% lifetime risk of breast cancer

population-based women breast high-risk germline genome-wide microarray
Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.

PMID 18366646 · PMC2323364 · BMC medical genetics · 2008 · 7 claims · 8 setups

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Common ARNT variants are not associated with type 2 diabetes in European American or African American case-control cohorts

european african individuals nondiabetic snp variant direct
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

PMID 19753312 · PMC2742639 · Molecular vision · 2009 · 7 claims · 4 setups

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Mutations responsible for over 30% of LCA cases in northern America were found in only 2.6% of LCA cases in a southern Indian cohort.

unrelated lca genomic allele-specific bidirectional electroretinogram

Experiments

Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.

A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings.

Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study.

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).

Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.

Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation.

A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

Integrative analyses reveal signaling pathways underlying familial breast cancer susceptibility.

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

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

Genetics and proteomics: deciphering gene association studies in critical illness.

PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

Mutations in NYX of individuals with high myopia, but without night blindness.

Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

Advances in breast cancer: pathways to personalized medicine.

Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.