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 19

System / cell line: buccal ✕ Assay: sequencing ✕ Clear

The Genographic Project public participation mitochondrial DNA database.

PMID 17604454 · PMC1904368 · PLoS genetics · 2007 · 7 claims · 4 setups

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The Genographic Project created the largest standardized human mtDNA database to date, comprising 78,590 genotypes from the first 18 months of public participation.

buccal reference entire direct coding-region leave-one-out
Associations between cigarette smoking and mitochondrial DNA abnormalities in buccal cells.

PMID 18281252 · PMC2443276 · Carcinogenesis · 2008 · 7 claims · 4 setups

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Cigarette smoking is associated with a higher frequency of somatic mtDNA mutations in buccal cells

buccal subject ttge real-time pcr-based
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.

PMID 16834459 · PMC1502153 · PLoS medicine · 2006 · 8 claims · 8 setups

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A somatic activating mutation in MPL (W515L, transmembrane domain) is present in 9% (4/45) of JAK2V617F-negative myelofibrosis (MF) patients

granulocyte hapmap 32d balb sequencing genotyping proliferation
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups

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TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI

arci unrelated dog direct sequence blast
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

PMID 19921648 · PMC2787970 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups

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SOX2 coding-region mutations were identified in 10 of 51 (19.6%) unrelated individuals with anophthalmia/microphthalmia

blood parents sox2-mutation-positive pcr parental clinical
A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype.

PMID 17596670 · PMC2693654 · Journal of Korean medical science · 2007 · 7 claims · 7 setups

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The propositus shows mixed-field agglutination with anti-B that mimics the B3 ABO subtype but is not caused by a B3 allele.

propositus relatives serologic allele-specific haplotype-specific
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.

PMID 17125505 · PMC1684249 · BMC medical genetics · 2006 · 6 claims · 3 setups

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A nonsense mutation c.1072C>T (p.Arg358X) in exon 12 of EDAR was identified in affected individuals from both Swedish families and is disease-specific

genomic patients dhplc pcr clinical
Mitochondrial DNA aberrations of bone marrow cells from patients with aplastic anemia.

PMID 19119453 · PMC2610644 · Journal of Korean medical science · 2008 · 7 claims · 3 setups

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Bone marrow cells from AA patients show significantly more mtDNA aberrations (mean=25.6) than healthy controls (mean=12.8)

bone buccal mtdna direct sequence
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.

PMID 35296718 · PMC8927422 · Scientific reports · 2022 · 8 claims · 8 setups

Has reproduction · 84

Four FBN1-negative patients from three families with a MASS-like phenotype carry likely pathogenic or uncertain-significance missense variants in the propeptide-coding regions of COL2A1

blood-derived four patients col2a1 targeted clinical transthoracic
Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes.

PMID 18925961 · PMC2588460 · BMC cancer · 2008 · 8 claims · 4 setups

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aCGH profiling of CMML samples reveals three profile types: normal-like (two-thirds of cases), large chromosomal abnormalities, and focal single/few-gene gains or losses

bone array-cgh sanger nested
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.

PMID 22821884 · PMC4166655 · American journal of medical genetics. Part A · 2012 · 8 claims · 6 setups

Has reproduction · 88

A novel heterozygous HRAS c.266C>G (p.S89C) germline mutation was identified in two siblings with severe fetal hydrops/pleural effusion (Patient 1) and polyhydramnios/Dandy-Walker malformation (Patient 2).

cos-7 parental hras genomic ras immunoblotting egf
Method for determination of (-102C>T) single nucleotide polymorphism in the human manganese superoxide dismutase promoter.

PMID 15598343 · PMC544190 · BMC genetics · 2004 · 6 claims · 4 setups

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A novel TaqMan allelic discrimination assay can reliably genotype the MnSOD -102C>T SNP from diverse DNA sources including blood, buccal swabs, frozen tissue, and paraffin blocks.

genomic paraffin-embedded taqman pcr-restriction automated
Dog Y chromosomal DNA sequence: identification, sequencing and SNP discovery.

PMID 17026745 · PMC1630699 · BMC genetics · 2006 · 8 claims · 6 setups

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Identified 32 male-specific Y-chromosome sequences totaling 24159 bp via combined Blast (human Y chromosome match, absence from female dog genome) and PCR male-specificity screening of a male poodle shotgun genome.

poodle dogs y-chromosome blast pcr nested
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
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups

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Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains

genomic hair-root reference patients pcr screening multi-tissue
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

PMID 17052327 · PMC1626071 · BMC medical genetics · 2006 · 8 claims · 8 setups

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RSTS is caused by chromosomal microdeletions and point mutations in one copy of CREBBP (16p13.3), consistent with haploinsufficiency of this dosage-sensitive gene

peripheral patient-parent genomic crebbp karyotyping bac microsatellite
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

PMID 19097825 · PMC2692687 · Clinical immunology (Orlando, Fla.) · 2009 · 8 claims · 7 setups

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CORO1A deficiency, caused by a paternal 2bp frameshift mutation combined with a maternal de novo 600kb deletion at chromosome 16p11.2, is the molecular cause of this patient's T-B+NK+ SCID

ebv-transformed genomic father peripheral intracellular snp sequencing
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

PMID 19941982 · PMC4354948 · European journal of medical genetics · 2010 · 8 claims · 5 setups

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Three Hispanic families from Mexico with novel FBN1 mutations show cardiovascular and ocular manifestations of MFS but a paucity of skeletal manifestations.

hispanic hmfs001 family genomic clinical echocardiography ophthalmologic
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

PMID 25914166 · PMC4830354 · American journal of medical genetics. Part A · 2015 · 7 claims · 8 setups

Has reproduction

HRAS c.179G>A (p.Gly60Asp) causes an attenuated Costello syndrome phenotype without severe failure-to-thrive, intellectual disability, or cancer predisposition

cos-7 transiently patients parental ras co-immunoprecipitation immunoblotting

Experiments

The Genographic Project public participation mitochondrial DNA database.

Associations between cigarette smoking and mitochondrial DNA abnormalities in buccal cells.

MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype.

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.

Mitochondrial DNA aberrations of bone marrow cells from patients with aplastic anemia.

Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.

Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes.

A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.

Method for determination of (-102C>T) single nucleotide polymorphism in the human manganese superoxide dismutase promoter.

Dog Y chromosomal DNA sequence: identification, sequencing and SNP discovery.

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

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.