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 59

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

Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

PMID 17319955 · PMC1808054 · BMC medical genetics · 2007 · 7 claims · 7 setups

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TGFβ1 is a crucial mediator in the pathogenesis of diabetic nephropathy, promoting renal hypertrophy and extracellular matrix accumulation.

genomic healthy irish case mutation direct taqman
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
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.

PMID 19786220 · PMC3309400 · Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2009 · 7 claims · 5 setups

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SLC26A4 mutations are highly prevalent in Chinese patients with SNHL and EVA, with mutations found in 100% (32/32) of subjects.

blood-derived subjects mutation pure high-resolution
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

PMID 16652333 · PMC1828612 · Human mutation · 2006 · 7 claims · 6 setups

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FBLN5 missense mutations are associated with ARMD in a European (UK/Dutch) cohort, confirming prior US findings

armd dutch fibulin pef6-ssflag mutation computational site-directed
Mosaicism in von Hippel-Lindau disease: an event important to recognize.

PMID 18205710 · PMC4401302 · Journal of cellular and molecular medicine · 2007 · 7 claims · 5 setups

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The proband's father is a somatic mosaic for a VHL missense mutation (R161Q), explaining his mild, late-onset phenotype compared to his daughter's severe early-onset disease.

peripheral father's pcr proband dhplc sanger semiquantitative
Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome.

PMID 18087273 · PMC2361463 · British journal of cancer · 2008 · 8 claims · 5 setups

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The malignant brain tumours in patients III-1, III-3, and III-4, originally classified as anaplastic ependymomas, are in fact atypical teratoid/rhabdoid tumours (AT/RT)

constitutional formalin-fixed tumour blood sanger denaturing immunohistochemistry
Low frequency of E-cadherin alterations in familial breast cancer.

PMID 11305955 · PMC30704 · Breast cancer research : BCR · 2001 · 8 claims · 5 setups

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No pathogenic germline E-cadherin mutations were found in 19 familial breast cancer patients whose tumours showed LOH at the E-cadherin locus

blood same tumour pcr-sscp denaturing somatic
Prevalence of the congenital long-QT syndrome.

PMID 19841298 · PMC2784143 · Circulation · 2009 · 7 claims · 6 setups

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The prevalence of LQTS among Caucasian apparently healthy live-births is at least 1:2,534 (95% CI 1:1,583-1:4,350)

neonates family heterologous 12-lead targeted transthoracic
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

PMID 18697827 · PMC3711528 · Journal of medical genetics · 2008 · 8 claims · 8 setups

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Four novel JARID1C mutations (p.A77T, p.V504M, p.E468GfsX2, p.R1481GfsX9) were identified in males with mental retardation across three screened cohorts.

genomic family carrier jarid1c dhplc allele-specific restriction
Mutation of ERBB2 provides a novel alternative mechanism for the ubiquitous activation of RAS-MAPK in ovarian serous low malignant potential tumors.

PMID 19010816 · PMC6953412 · Molecular cancer research : MCR · 2008 · 8 claims · 8 setups

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Activating RAS-MAPK pathway mutations are present in >70% of serous LMP tumors versus ~12.5% of serous ovarian carcinomas

serous same lmp braf-mutant gene hotspot erbb2
Large genomic rearrangements in the CFTR gene contribute to CBAVD.

PMID 17448246 · PMC1876208 · BMC medical genetics · 2007 · 7 claims · 6 setups

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Large genomic rearrangements in CFTR contribute to CBAVD and should be systematically investigated alongside point mutation screening

genomic pcr cftr semi-quantitative junction direct
Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.

PMID 16280053 · PMC1410737 · Breast cancer research : BCR · 2005 · 8 claims · 8 setups

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There is no evidence that highly penetrant exonic or splice site mutations in FANCD2, BRIP1/BACH1, LMO4 or SFN contribute to familial breast cancer

germline lymphoblastoid dhplc sequencing rt-pcr
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

PMID 15084222 · PMC419352 · BMC medical genetics · 2004 · 6 claims · 5 setups

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DHPLC gene scanning of the CFTR gene increases the mutation detection rate compared to standard commercial mutation panel screening alone

genomic pcr cftr inno-lipa pcr agarose
WNT10B mutations in human obesity.

PMID 16477437 · PMC4304000 · Diabetologia · 2006 · 8 claims · 8 setups

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The WNT10B C256Y missense mutation abrogates the protein's ability to activate canonical WNT signalling and block adipogenesis

genomic 3t3-l1 subject proband dhplc top-flash western
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups

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ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable

pfm selected point-mutation-negative family dhplc bidirectional multiplex
BCoR-L1 variation and breast cancer.

PMID 17697391 · PMC2206730 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups

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BCoR-L1 expression does not play a large role in predisposition to familial breast cancer

genomic aberrant lymphoblastoid mouse-human dhplc sanger qrt-pcr
Increased constraints on MC4R during primate and human evolution.

PMID 19011902 · PMC9947067 · Human genetics · 2009 · 6 claims · 7 setups

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There is a significant paucity of genetic diversity at MC4R in humans but not in chimpanzees.

hgdp-ceph germans central additional dhplc direct coding
K-RAS and P53 mutations in association with COX-2 and hTERT expression and clinico-pathological status of NSCLC patients.

PMID 18957720 · PMC3827803 · Disease markers · 2008 · 8 claims · 6 setups

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P53 mutations were identified in 34.4% of NSCLC tumours, most frequently in SCC (55.6%)

nsclc dhplc quantitative clinical
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.

PMID 18565236 · PMC2442058 · BMC medical genetics · 2008 · 7 claims · 6 setups

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The combined LD-PCR/DHPLC diagnostic strategy achieved a 100% mutation detection rate across 122 Taiwanese hemophilia A families.

genomic pcr long-distance pcr sanger
Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.

PMID 18362173 · PMC2292215 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups

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Somatic JAK1 mutations occur in ALL and are more prevalent among adult T-cell precursor ALL (T-ALL) than B-ALL

genomic jak1-deficient u4c bw5147 dhplc stat1 cytokine-independent

Experiments

Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

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

Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.

Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

Mosaicism in von Hippel-Lindau disease: an event important to recognize.

Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome.

Low frequency of E-cadherin alterations in familial breast cancer.

Prevalence of the congenital long-QT syndrome.

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

Mutation of ERBB2 provides a novel alternative mechanism for the ubiquitous activation of RAS-MAPK in ovarian serous low malignant potential tumors.

Large genomic rearrangements in the CFTR gene contribute to CBAVD.

Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

WNT10B mutations in human obesity.

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

BCoR-L1 variation and breast cancer.

Increased constraints on MC4R during primate and human evolution.

K-RAS and P53 mutations in association with COX-2 and hTERT expression and clinico-pathological status of NSCLC patients.

Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.