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Shiny-Calorie: a context-aware application for indirect calorimetry data analysis and visualization using R.
PMID 41640623 · Bioinformatics advances · 2026
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Fructose uptake by brown adipose tissue is independent of carbohydrate response element-binding protein and does not cause elevated de novo lipogenesis.
PMID 41408829 · Acta biochimica et biophysica Sinica · 2025
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The TREM2-APOE Pathway Drives the Transcriptional Phenotype of Dysfunctional Microglia in Neurodegenerative Diseases.
PMID 28930663 · Immunity · 2017
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67/100
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
PMID 10025409 · Cell · 1999
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88/100
A potassium channel mutation in neonatal human epilepsy.
PMID 9430594 · Science (New York, N.Y.) · 1998
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Disease-specific biomarkers of pathogenic HRAS variants in human immortalized keratinocytes.
PMID 42262227 · · 2026
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Endogenous retroviral elements LTR8B and MER65 rewire PSG9 regulation to control trophoblast syncytialization and pre-eclampsia risk.
PMID 41796334 · Genome Biol · 2026
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68/100
Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome
PMID 41729082 · · 2026
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89/100
Distinct sympathetic projections to brown fat regulate thermogenesis and glucose tolerance.
PMID 41559445 · Nat Metab · 2026
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85/100
Purinergic adipocyte-macrophage crosstalk promotes degeneration of thermogenic brown adipose tissue
PMID 41261284 · · 2025
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78/100
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.
PMID 41056017 · · 2025
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67/100
Thoracic aortic diseases: Identification of diagnostic biomarkers using proteomic analysis⚑
PMID 41061941 · · 2025
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23/100
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Single-nucleus mRNA-sequencing reveals dynamics of lipogenic and thermogenic adipocyte populations in murine brown adipose tissue in response to cold exposure.
PMID 40945691 · Mol Metab · 2025
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93/100
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis
PMID 40963120 · Genome Medicine · 2025
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Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
PMID 40555819 · Nature Genetics (Author Correction 2025; orig 2024;56:1644) · 2025
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76/100
Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of FBN2.
PMID 40406865 · · 2025
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Covalent binding of thioredoxin to TXNIP is required for diet-induced insulin resistance in the liver.
PMID 40345590 · J Biol Chem · 2025
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87/100
Pleiotropic effects of MORC2 derive from its epigenetic signature
PMID 40302207 · · 2025
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NK2R control of energy expenditure and feeding to treat metabolic diseases.
PMID 39537932 · Nature · 2024
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87/100
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors
PMID 39256359 · · 2024
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87/100
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findi
PMID 39039281 · Nat Genet · 2024
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87/100
Intergenic risk variant rs56258221 skews the fate of naive CD4+ T cells via miR4464-BACH2 interplay in primary sclerosing cholangitis
PMID 38901430 · · 2024
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58/100
Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use
PMID 38167725 · Nature Communications · 2024
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94/100
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
PMID 36414417 · · 2023
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85/100
Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes.
PMID 35981076 · · 2023
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66/100
Clinical and pathological characteristics of familial melanoma with germline <scp>TERT</scp> promoter variants
PMID 35912549 · · 2022
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Prediction of Antibiotic Susceptibility Profiles of Vibrio cholerae Isolates From Whole Genome Illumina and Nanopore Sequencing Data: CholerAegon.
PMID 35814690 · Front Microbiol · 2022
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86/100
Apoptotic brown adipocytes enhance energy expenditure via extracellular inosine
PMID 35790189 · · 2022
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57/100
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.
PMID 35764878 · · 2022
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The focal adhesion protein β-parvin controls cardiomyocyte shape and sarcomere assembly in response to mechanical load.
PMID 35688156 · · 2022
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Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
PMID 35296718 · · 2022
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84/100
Estimation of peptide elongation times from ribosome profiling spectra.
PMID 33885812 · Nucleic Acids Res · 2021
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76/100
TFEB deficiency attenuates mitochondrial degradation upon brown adipose tissue whitening at thermoneutrality
PMID 33516944 · Molecular Metabolism 47:101173 · 2021
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Endogenous Fatty Acid Synthesis Drives Brown Adipose Tissue Involution
PMID 33440156 · · 2021
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Brown adipose tissue lipoprotein and glucose disposal is not determined by thermogenesis in uncoupling protein 1-deficient mice
PMID 32769145 · · 2020
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The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.
PMID 32499600 · · 2020
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Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.⚑
PMID 32367296 · · 2020
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16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome.
PMID 31044419 · Clinical Genetics · 2019
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PID1 regulates insulin-dependent glucose uptake by controlling intracellular sorting of GLUT4-storage vesicles
PMID 30904610 · · 2019
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Effects of Pharmacological Thermogenic Adipocyte Activation on Metabolism and Atherosclerotic Plaque Regression
PMID 30813320 · · 2019
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Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
PMID 30675029 · · 2019
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Intact innervation is essential for diet-induced recruitment of brown adipose tissue
PMID 30576247 · · 2018
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Lipolysis Triggers a Systemic Insulin Response Essential for Efficient Energy Replenishment of Activated Brown Adipose Tissue in Mice
PMID 30033199 · · 2018
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Course of HEV viremia and anti-HEV IgM/IgG response in asymptomatic blood donors
PMID 29860111 · · 2018
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A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay.
PMID 29808465 · · 2018
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RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.
PMID 29734338 · PLoS Genetics 14(5):e1007370 · 2018
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FoxO transcription factors are required for hepatic HDL cholesterol clearance
PMID 29408809 · · 2018
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49/100
Cold-induced conversion of cholesterol to bile acids in mice shapes the gut microbiome and promotes adaptive thermogenesis
PMID 28604703 · · 2017
No data access
Thermogenic adipocytes promote HDL turnover and reverse cholesterol transport
PMID 28422089 · Nature Communications · 2017
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