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 32

System / cell line: mutations ✕ Assay: brain ✕ Clear

Contributions from molecular/biochemical approaches in epidemiology to cancer risk assessment and prevention.

PMID 1486845 · PMC1519598 · Environmental health perspectives · 1992 · 8 claims · 8 setups

Full-text index only

Genotoxicity of chemicals is a continuous, graded property (agent score) rather than a simple dichotomy of mutagenic vs. nonmutagenic chemicals

chemical drosophila normal uv-sensitive short-term drosophila excision
Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours.

PMID 10408842 · PMC2362327 · British journal of cancer · 1999 · 8 claims · 3 setups

Full-text index only

No mutations were found in the coding region of GDNF in any of the 36 brain tumours analysed

sporadic tumour tumour-derived pcr loss semi-quantitative
Multiple polymorphisms, but no mutations, in the WAF1/CIP1 gene in human brain tumours.

PMID 7577473 · PMC2033923 · British journal of cancer · 1995 · 8 claims · 5 setups

Full-text index only

No somatic mutations of WAF1/CIP1 were found in 158 primary human brain tumours

reamplified same brain healthy sscp direct microsatellite
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

PMID 18577546 · PMC2442425 · Brain : a journal of neurology · 2008 · 8 claims · 8 setups

Full-text index only

Co-occurring PED and epilepsy can be caused by autosomal dominant heterozygous mutations in SLC2A1, encoding the glucose transporter GLUT1

family genomic xenopus patients genome-wide pcr glucose
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.

PMID 15345028 · PMC517934 · BMC medical genetics · 2004 · 8 claims · 4 setups

Full-text index only

No disease-associated mutations were found in TM4SF10 in 16 XLMR patients from 14 families with linkage to the TM4SF10 locus.

genomic dog sage pcr northern sage
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.

PMID 17218254 · PMC1885944 · Cell · 2007 · 8 claims · 8 setups

Full-text index only

A semidominant ENU-induced S140G mutation in α-1 tubulin (Tuba1) causes hyperactivity and impaired neuronal migration in Jna/+ mice

enu-mutagenized jna cell-free hippocampus locomotor qtl gtp-binding
Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

PMID 18717728 · PMC7254873 · European journal of neurology · 2008 · 8 claims · 4 setups

Full-text index only

Spatacsin (SPG11) mutations are a frequent cause of complex ARHSP, occurring in 3 of 8 screened families

genomic patients sanger brain clinical
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups

Full-text index only

Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations

genomic pcr-amplified tsc healthy dhplc direct pcr
The molecular landscape of ASPM mutations in primary microcephaly.

PMID 19028728 · PMC2658750 · Journal of medical genetics · 2009 · 8 claims · 7 setups

Full-text index only

ASPM mutations are the most common cause of MCPH

consanguineous genomic parents one polymorphic sanger family
A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.

PMID 16100463 · PMC2782167 · Journal of Korean medical science · 2005 · 7 claims · 4 setups

Full-text index only

A novel heterozygous DCX missense mutation, c.386C>T (S129L) in exon 3, is responsible for SBH in Patient 1

peripheral genomic pcr direct pcr rflp
G2Cdb: the Genes to Cognition database.

PMID 18984621 · PMC2686544 · Nucleic acids research · 2009 · 7 claims · 7 setups

Full-text index only

G2Cdb integrates experimentally validated synapse proteome datasets with mouse/human genomic annotation, phenotype, and human disease data in a gene-centric database.

brain nervous genome synaptic proteomic large-scale sequence
Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.

PMID 18437002 · PMC2526428 · Journal of Korean medical science · 2008 · 6 claims · 6 setups

Full-text index only

Two different PSEN1 mutations (G206S and M233T) were identified in Korean EOAD patients

genomic blood korean patients direct pcr apoe
A sequence-based survey of the complex structural organization of tumor genomes.

PMID 18364049 · PMC2397511 · Genome biology · 2008 · 8 claims · 6 setups

Full-text index only

End sequencing profiling (ESP) can identify all classes of genome rearrangements in tumor genomes by paired-end sequencing of BAC clones

tumors breast bac bt474 bac low-coverage fluorescence
Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations.

PMID 19654296 · PMC2763410 · Cancer research · 2009 · 7 claims · 7 setups

Full-text index only

CHASM, a Random Forest-based computational method, was developed to identify and prioritize missense mutations likely to be functional drivers of tumor cell proliferation.

missense same synthetic tp53 random support principal
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

PMID 17436019 · PMC1914248 · Human genetics · 2007 · 7 claims · 8 setups

Full-text index only

A homozygous 63.1-kb intragenic deletion in LARGE (exons 9-10) causes Walker-Warburg syndrome in a consanguineous Saudi family

genomic family skeletal blood microsatellite direct multiplex
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.

PMID 18539534 · PMC2832754 · The Lancet. Neurology · 2008 · 8 claims · 7 setups

Full-text index only

LRRK2-associated PD can be distinguished from idiopathic PD by a more benign motor and non-motor phenotype

unrelated patients people homozygous genetic standardized olfaction
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

PMID 20037587 · PMC3786192 · Nature genetics · 2010 · 8 claims · 6 setups

Full-text index only

SPSMA and CMT2C are allelic disorders caused by mutations in TRPV4

spsma spsma-affected hek293 candidate histopathology confocal
DNA demethylation is associated with malignant progression of lower-grade gliomas.

PMID 30760837 · PMC6374451 · Scientific reports · 2019 · 8 claims · 8 setups

Has reproduction

Nearly half of IDH-mutant glioblastomas that progressed from lower-grade gliomas show characteristic partial DNA demethylation in previously methylated (G-CIMP) genomic regions of their initial tumor.

gliomas neural analysis tcga methylation whole-exome sequencing
CpG island methylation status and mutation analysis of the RB1 gene essential promoter region and protein-binding pocket domain in nervous system tumours.

PMID 12556968 · PMC2376780 · British journal of cancer · 2003 · 8 claims · 4 setups

Full-text index only

RB1 CpG island hypermethylation is a common epigenetic event associated with development of malignant nervous system tumours

nervous bisulphite-modified same pcr-sscp methylation-specific bisulphite
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

PMID 18465152 · PMC2441586 · Neurogenetics · 2008 · 8 claims · 8 setups

Full-text index only

37% (16/43) of Dutch index patients with early-onset recessive cerebellar ataxia carry SACS mutations, indicating ARSACS is far more frequent than previously estimated

genomic identified sacs-mutation-positive alleles pcr clinical brain

Experiments

Contributions from molecular/biochemical approaches in epidemiology to cancer risk assessment and prevention.

Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours.

Multiple polymorphisms, but no mutations, in the WAF1/CIP1 gene in human brain tumours.

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

The molecular landscape of ASPM mutations in primary microcephaly.

A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.

G2Cdb: the Genes to Cognition database.

Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.

A sequence-based survey of the complex structural organization of tumor genomes.

Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations.

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

DNA demethylation is associated with malignant progression of lower-grade gliomas.

CpG island methylation status and mutation analysis of the RB1 gene essential promoter region and protein-binding pocket domain in nervous system tumours.

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.