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).
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Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
PMID 19720790 · PMC2780873 · Diabetes · 2009 · 7 claims · 8 setups
INSR is disrupted by the chromosome 19 breakpoint, causing INSR haploinsufficiency (monoallelic expression) that explains the insulin resistance/dysglycemia phenotype
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Genotype-phenotype associations: modulation by diet and obesity.
PMID 19037211 · PMC2771769 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 7 setups
Obesity modulates the association between APOE genotype and fasting insulin/glucose levels in men, with obese APOE4 carriers showing higher insulin and glucose than other obese genotype groups.
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Implications of gene-behavior interactions: prevention and intervention for obesity.
PMID 19037218 · PMC2703301 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 8 setups
Obesity has a strong genetic basis and multifactorial etiology, not attributable solely to food abundance and lack of exercise opportunity
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Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young.
PMID 20003313 · PMC2797770 · Cardiovascular diabetology · 2009 · 7 claims · 6 setups
The Val/Met255 mutation (G→A substitution at codon 255) in HNF4α is present at a considerable frequency among Iranian clinical MODY patients
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Apolipoprotein A-IV, a putative satiety/antiatherogenic factor, rises after gastric bypass.
PMID 18948973 · PMC2627784 · Obesity (Silver Spring, Md.) · 2009 · 6 claims · 7 setups
Apolipoprotein A-IV (apo A-IV) is significantly increased in fasting plasma after RYGBP compared to pre-operative levels
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Metabolic syndrome: from epidemiology to systems biology.
PMID 18852695 · PMC2829312 · Nature reviews. Genetics · 2008 · 8 claims · 8 setups
MetSyn component traits (obesity, insulin resistance, dyslipidaemia, hypertension) exhibit causal interactions and common etiologies rather than being independent conditions
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Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3).
PMID 16412238 · PMC1368963 · BMC medical genetics · 2006 · 8 claims · 6 setups
A novel PPARG nonsense mutation, Y355X, was identified in a mother and daughter with FPLD3-consistent phenotypes and was absent from unaffected relatives and 260 healthy controls
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Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.
PMID 18382660 · PMC2270336 · PloS one · 2008 · 8 claims · 6 setups
16 of 30 patients with suspected MODY (53%) carry GCK mutations, confirming GCK MODY diagnosis
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Improved weight management using genetic information to personalize a calorie controlled diet.
PMID 17945020 · PMC2151062 · Nutrition journal · 2007 · 7 claims · 4 setups
Personalizing a weight-management diet using nutrigenetic test results improves long-term BMI reduction and weight loss maintenance compared to a standard diet.
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Has reproduction
Endogenous Fatty Acid Synthesis Drives Brown Adipose Tissue Involution.
PMID 33440156 · PMC8240962 · Cell reports · 2021 · 8 claims · 8 setups
Endogenous fatty acid synthesis (DNL), regulated by ChREBP, is the central driver of BAT whitening/involution at thermoneutrality.
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Has reproduction
TFEB deficiency attenuates mitochondrial degradation upon brown adipose tissue whitening at thermoneutrality.
PMID 33516944 · PMC7903014 · Molecular metabolism · 2021 · 7 claims · 8 setups
BAT whitening at thermoneutrality is associated with TFEB-dependent mitochondrial degradation.
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Alstrom syndrome (OMIM 203800): a case report and literature review.
PMID 18154657 · PMC2266715 · Orphanet journal of rare diseases · 2007 · 8 claims · 8 setups
The proband is a compound heterozygote for two novel ALMS1 mutations, V424I (exon 6) and H3882Y (exon 17), causative for Alstrom syndrome