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 104

System / cell line: peripheral ✕ Assay: direct ✕ Clear

A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance.

PMID 17596672 · PMC2693656 · Journal of Korean medical science · 2007 · 7 claims · 8 setups

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Two members of a Korean family (mother and son) with generalized RTH harbor a novel insertion mutation, 1358_1359insC, in exon 10 of the THRB gene, causing a frameshift (Leu454PhefsX11)

peripheral serum thyroid pcr radioimmunoassay thyroid
The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.

PMID 17449949 · PMC2693607 · Journal of Korean medical science · 2007 · 7 claims · 5 setups

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This is the first reported Korean case of Beare-Stevenson syndrome.

peripheral pcr infant forearm pcr-direct agarose brain
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

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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
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
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
Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

PMID 18828908 · PMC2567295 · BMC medical genetics · 2008 · 8 claims · 6 setups

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c.1333delC is a novel de novo frameshift mutation in TBX5 exon 9 predicted to produce an elongated 580-amino-acid protein (74 miscoding + 62 supernumerary C-terminal residues) instead of a truncated one

peripheral cos-7 direct confocal co-localization
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

PMID 18234728 · PMC2564862 · Journal of medical genetics · 2008 · 8 claims · 7 setups

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BHD germline mutation detection rate was 88% (51/58 families) using direct DNA sequencing

peripheral blood-derived folliculin chest direct subcloning sequence
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
A novel germline mutation of PTEN associated with brain tumours of multiple lineages.

PMID 12085208 · PMC2746590 · British journal of cancer · 2002 · 8 claims · 6 setups

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A novel heterozygous germline PTEN mutation (Arg234Gln, R234Q) was identified in a patient with glioma and prior meningioma

peripheral tumour u87mg baf3 pcr microsatellite proliferation
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

PMID 16405730 · PMC1343542 · BMC medical genetics · 2006 · 8 claims · 4 setups

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Germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma

peripheral genomic ebv-transformed conformation pira-pcr rt-pcr
Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

PMID 18701470 · PMC2562548 · Cancer research · 2008 · 7 claims · 4 setups

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Carriers of common ATM variants (>=1% frequency) have a statistically significant reduction in risk of contralateral breast cancer (CBC)

peripheral wecare atm mutation case-control variant
A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome.

PMID 18495044 · PMC2430547 · BMC medical genetics · 2008 · 8 claims · 3 setups

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Germline mutation of STK11 is responsible for Peutz-Jeghers syndrome

peripheral chromosomes colonic pcr chromosome histopathological
A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.

PMID 18811933 · PMC2565682 · BMC cancer · 2008 · 7 claims · 2 setups

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The hMYH haplotype T/A variant allele is present at significantly higher frequency in CRC patients than in healthy controls

peripheral cos-7 dhplc immunofluorescence
Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome.

PMID 10389970 · PMC2363026 · British journal of cancer · 1999 · 6 claims · 2 setups

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No germline mutations were detected in CDKN2 (p16 or p19ARF) in any of the 16 TP53-negative LFS/LFL families tested

peripheral nested
Leber's hereditary optic neuropathy--case report and literature review.

PMID 15692724 · PMC11126178 · Sao Paulo medical journal = Revista paulista de medicina · 2004 · 8 claims · 8 setups

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Genetic testing confirmed a homoplasmic G11778A mitochondrial DNA mutation in the patient, confirming the diagnosis of LHON

peripheral left optic visual pcr muscle visual
A novel mutation in the SH3BP2 gene causes cherubism: case report.

PMID 17147794 · PMC1764878 · BMC medical genetics · 2006 · 6 claims · 6 setups

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A novel A1517G base change in exon 9 of SH3BP2, causing a D419G amino acid substitution, is the disease-causing mutation in this cherubism family.

genomic proband patients jaw direct pcr computed
Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.

PMID 16479084 · PMC2733967 · Journal of Korean medical science · 2006 · 8 claims · 7 setups

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Two female infants with isolated diffuse mesangial sclerosis (IDMS) and early-onset end-stage renal failure carried heterozygous WT1 mutations (exon 8 366Arg>His; exon 9 396Asp>Tyr)

genomic kidney blood kidneys direct parental renal
Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.

PMID 17728513 · PMC2693823 · Journal of Korean medical science · 2007 · 7 claims · 6 setups

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EDS type IV is genetically heterogeneous; not all clinically/biochemically diagnosed patients carry COL3A1 mutations

genomic peripheral abdominal cerebral direct genomic angiography
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.

PMID 17223989 · PMC1859977 · Clinical endocrinology · 2007 · 7 claims · 5 setups

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MC2R mutations can be found in children diagnosed with salt-losing forms of adrenal hypoplasia

genomic plasma children direct plasma standard
Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT).

PMID 18846391 · PMC3155267 · Pediatric nephrology (Berlin, Germany) · 2009 · 8 claims · 5 setups

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No UMOD mutations were identified in 96 patients with CAKUT after full mutation screening

genomic pcr cakut direct cel sequencing

Experiments

A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance.

The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.

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

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

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

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

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

A novel germline mutation of PTEN associated with brain tumours of multiple lineages.

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome.

A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.

Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome.

Leber's hereditary optic neuropathy--case report and literature review.

A novel mutation in the SH3BP2 gene causes cherubism: case report.

Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.

Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.

Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT).