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 9

System / cell line: exon ✕ Assay: pure ✕ Clear

A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.

PMID 17517145 · PMC1890544 · BMC medical genetics · 2007 · 7 claims · 6 setups

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A novel heterozygous missense mutation Y669H (2005T>C) in exon 8 of WFS1 was identified in affected family members but not in 100 controls (200 chromosomes)

family genomic 10-member wfs1 pure direct pcr-rflp
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

PMID 17663003 · PMC3272403 · Journal of the neurological sciences · 2007 · 6 claims · 5 setups

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Only two BSCL2 exon 3 mutations (N88S, S90L) are likely responsible for the dHMN-V and Silver syndrome phenotypes identified in this cohort

unrelated probands single sanger nerve needle
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

PMID 18688868 · PMC2586182 · American journal of medical genetics. Part A · 2008 · 8 claims · 5 setups

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A novel missense mutation c.2576G→A (p.R859Q) in WFS1 exon 8 causes autosomal dominant LFSNHL in this American family

genomic wfs1 ceph affected pcr sanger population
Targeted disruption of the S1P2 sphingosine 1-phosphate receptor gene leads to diffuse large B-cell lymphoma formation.

PMID 19903857 · PMC2973841 · Cancer research · 2009 · 8 claims · 8 setups

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S1P2−/− mice develop clonal B-cell lymphomas with age, with ~half affected by 1.5-2 years

s1p2− lymphoma bone genomic necropsy histology flow
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
Molecular epidemiology of DFNB1 deafness in France.

PMID 15070423 · PMC385234 · BMC medical genetics · 2004 · 8 claims · 7 setups

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35delG remains the most common pathogenic GJB2 mutation in the studied French (Languedoc Roussillon) population despite being less frequent than in other Mediterranean populations

gjb2 dried genomic deaf dhplc pcr-mediated pcr-dhplc
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

PMID 15447792 · PMC523852 · BMC medical genetics · 2004 · 8 claims · 8 setups

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TMPRSS3 mutations were identified in four additional Pakistani families with recessive, nonsyndromic congenital deafness co-segregating with DFNB8/B10 haplotypes

pakistani affected retina tissues linkage sanger race
Genotype differences in cognitive functioning in Noonan syndrome.

PMID 19077116 · PMC2760992 · Genes, brain, and behavior · 2009 · 8 claims · 6 setups

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Genotype differences account for some of the variation in cognitive ability in Noonan syndrome

individuals participants parents standardized genetic pure-tone
Differences in the histological findings, phenotypic marker expressions and genetic alterations between adenocarcinoma of the gastric cardia and distal stomach.

PMID 17262083 · PMC2360051 · British journal of cancer · 2007 · 8 claims · 6 setups

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C-Ca is associated with a significantly higher incidence of differentiated-type tumours and lymphatic vessel invasion (LVI) compared with D-Ca

resected c-ca microdissected formalin-fixed histopathological immunohistochemistry pcr-single-strand

Experiments

A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

Targeted disruption of the S1P2 sphingosine 1-phosphate receptor gene leads to diffuse large B-cell lymphoma formation.

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

Molecular epidemiology of DFNB1 deafness in France.

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

Genotype differences in cognitive functioning in Noonan syndrome.

Differences in the histological findings, phenotypic marker expressions and genetic alterations between adenocarcinoma of the gastric cardia and distal stomach.