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 62

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

Molecular genetic diagnosis of von Hippel-Lindau disease: analysis of five Japanese families.

PMID 8641976 · PMC5921130 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 3 setups

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Four of five Japanese VHL disease families showed germ line VHL gene mutations, comprising 2 missense mutations, 1 deletion, and 1 splice-site mutation

blood-derived hemangioblastoma single-strand direct sscp
Correlation of mutation and immunohistochemistry of p53 in hepatocellular carcinomas in Korean people.

PMID 12483005 · PMC3054961 · Journal of Korean medical science · 2002 · 6 claims · 3 setups

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5% immunoreactive tumor cells is a reliable IHC threshold to detect p53 mutations in HCC

hcc genomic pcr immunohistochemistry pcr-sscp sequencing
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

PMID 19912631 · PMC2780402 · BMC medical genetics · 2009 · 8 claims · 6 setups

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Mutations in RAG1/2 and DCLRE1C account for around 50% and 25%, respectively, of the study cohort, a proportion much higher than previously reported series

parental genomic anonymized peripheral microsatellite direct mutation
Molecular characterization of retinitis pigmentosa in Saudi Arabia.

PMID 19956407 · PMC2786884 · Molecular vision · 2009 · 8 claims · 7 setups

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The causative mutation was identified in 51 of 52 (94%/98%) Saudi RP patients, including seven novel mutations.

blood-derived families pcr-amplified ethnically genome-wide linkage bidirectional
p53 expression and its relationship to DNA alterations in bone and soft tissue sarcomas.

PMID 8260365 · PMC1968651 · British journal of cancer · 1993 · 8 claims · 6 setups

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25.7% (29/113) of bone and soft tissue sarcomas show positive p53 immunostaining

frozen subset saos-2 immunohistochemistry southern pcr-single
Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.

PMID 18397877 · PMC2427143 · Human molecular genetics · 2008 · 8 claims · 8 setups

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All six somatic TSC1 missense mutations found in bladder tumours cause loss of TSC1 function, but via distinct molecular mechanisms.

hcv29 lines tsc1 bladder immunoblotting real-time co-immunoprecipitation
Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

PMID 18989382 · PMC2579935 · Molecular vision · 2008 · 7 claims · 6 setups

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Missense mutations in CYP1B1 are most likely responsible for PCG in these three Pakistani families

genomic family ethnically affected genotyping two-point sanger
KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss.

PMID 18797286 · PMC2743278 · Current opinion in otolaryngology & head and neck surgery · 2008 · 8 claims · 8 setups

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KCNQ4 mutations at the DFNA2 locus on chromosome 1p34 cause autosomal dominant nonsyndromic progressive sensorineural hearing loss

seven-generation dfna2 xenopus kcnq4 linkage mutation heterologous
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
CanPredict: a computational tool for predicting cancer-associated missense mutations.

PMID 17537827 · PMC1933186 · Nucleic acids research · 2007 · 8 claims · 7 setups

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CanPredict is a web application providing public access to a random forest classifier that combines SIFT, LogR.E-value, and GOSS scores to predict whether a missense mutation is cancer-associated

missense observed sjoblom refseq cross-validation recurrence comparative
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

PMID 20023659 · PMC2980844 · Nature genetics · 2010 · 8 claims · 8 setups

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Mutations in INF2, a formin family actin-regulating protein, cause autosomal dominant focal segmental glomerulosclerosis (FSGS)

families genes individuals kidney genome-wide sanger resequencing
Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.

PMID 16968793 · PMC1865081 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 7 setups

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Homozygous StAR missense mutations Val187Met and Arg188Cys cause a novel, milder form of lipoid CAH ('non-classic lipoid CAH') presenting at 2-4 years of age rather than in infancy

blood cos-1 bacteria mitochondria sequencing cell-based recombinant
Mutational analysis of TARDBP in neurodegenerative diseases.

PMID 20031275 · PMC2889148 · Neurobiology of aging · 2011 · 8 claims · 4 setups

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TARDBP mutations are not a significant cause of AD or PD

als tdp-43 pcr pathogenicity
Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations.

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

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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
A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

PMID 19710941 · PMC2730747 · Molecular vision · 2009 · 8 claims · 3 setups

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A novel missense mutation A1274G (Lys322Glu) in exon 10 of OPTN was identified in affected members of the family

family peripheral patients microsatellite pcr clinical
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

PMID 16995940 · PMC1590028 · BMC genomics · 2006 · 8 claims · 6 setups

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In silico ESE-prediction algorithms (ESEfinder, RescueESE, PESX) do not reliably predict actual in vivo splicing behavior of missense mutations

hmlh1 same cos-7 hela ese splice minigene
Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.

PMID 20009079 · PMC2810855 · Circulation. Arrhythmia and electrophysiology · 2009 · 7 claims · 5 setups

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Six rare SNTA1 missense mutations (G54R, P56S, T262P, S287R, T372M, G460S) were identified in 8 of 292 (2.7%) SIDS cases, absent from 800 reference alleles

sids hek293 pcr whole-cell
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

PMID 18834967 · PMC2561938 · American journal of human genetics · 2008 · 7 claims · 6 setups

Has reproduction · 70

Heterozygous CHD7 mutations cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome without the CHARGE phenotype.

ihh additional chd7 sanger targeted rt-pcr
Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

PMID 18951463 · PMC2785447 · Human mutation · 2008 · 5 claims · 5 setups

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R1070P and R1070W CFTR mutants show apical membrane localization/insertion defects consistent with their associated disease severity

polarized mdck mdck-cftr patients confocal surface western
What have we learned from the congenital myasthenic syndromes.

PMID 19688192 · PMC3050586 · Journal of molecular neuroscience : MN · 2010 · 8 claims · 8 setups

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CMS have been traced to mutations in at least 11 disease genes encoding proteins at the neuromuscular junction

endplate endplates cos bacterially electron intracellular density

Experiments

Molecular genetic diagnosis of von Hippel-Lindau disease: analysis of five Japanese families.

Correlation of mutation and immunohistochemistry of p53 in hepatocellular carcinomas in Korean people.

Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

Molecular characterization of retinitis pigmentosa in Saudi Arabia.

p53 expression and its relationship to DNA alterations in bone and soft tissue sarcomas.

Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.

Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss.

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

CanPredict: a computational tool for predicting cancer-associated missense mutations.

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.

Mutational analysis of TARDBP in neurodegenerative diseases.

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

A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

What have we learned from the congenital myasthenic syndromes.