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Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases.
- Published in:
- Human Genomics, 2019, v. 13, n. 1, p. N.PAG, doi. 10.1186/s40246-019-0204-8
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- Publication type:
- Article
Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression.
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- Human Genetics, 2016, v. 135, n. 5, p. 485, doi. 10.1007/s00439-016-1654-x
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- Publication type:
- Article
Association of warfarin dose with genes involved in its action and metabolism.
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- Human Genetics, 2007, v. 121, n. 1, p. 23, doi. 10.1007/s00439-006-0260-8
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- Publication type:
- Article
Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism.
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- Human Genetics, 2002, v. 110, n. 2, p. 145, doi. 10.1007/s00439-002-0680-z
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- Publication type:
- Article
Genetic prevention of hepatitis C virus-induced liver fibrosis by allele-specific downregulation of MERTK.
- Published in:
- Hepatology Research, 2017, v. 47, n. 8, p. 826, doi. 10.1111/hepr.12810
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- Publication type:
- Article
Machine Learning-Based Analysis of Glioma Grades Reveals Co-Enrichment.
- Published in:
- Cancers, 2022, v. 14, n. 4, p. 1014, doi. 10.3390/cancers14041014
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- Publication type:
- Article
lobChIP: from cells to sequencing ready ChIP libraries in a single day.
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- Epigenetics & Chromatin, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13072-015-0017-5
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- Publication type:
- Article
The gene for Best's macular dystrophy is located at 11q13 in a Swedish family.
- Published in:
- Clinical Genetics, 1992, v. 42, n. 3, p. 156, doi. 10.1111/j.1399-0004.1992.tb03229.x
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- Publication type:
- Article
Linkage analysis in properdin deficiency families: refined location in proximal Xp.
- Published in:
- Clinical Genetics, 1992, v. 42, n. 1, p. 8, doi. 10.1111/j.1399-0004.1992.tb03126.x
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- Publication type:
- Article
Multiplex PCR excludes Duchenne muscular dystrophy in a twin pregnancy.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 314, doi. 10.1111/j.1399-0004.1991.tb03035.x
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- Publication type:
- Article
Different distribution of histone modifications in genes with unidirectional and bidirectional transcription and a role of CTCF and cohesin in directing transcription.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1485-5
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- Publication type:
- Article
Different distribution of histone modifications in genes with unidirectional and bidirectional transcription and a role of CTCF and cohesin in directing transcription
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 300, doi. 10.1186/s12864-015-1485-5
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- Publication type:
- Article
Cancer associated epigenetic transitions identified by genome-wide histone methylation binding profiles in human colorectal cancer samples and paired normal mucosa.
- Published in:
- 2011
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- Publication type:
- journal article
Functional annotation of noncoding mutations in cancer.
- Published in:
- Life Science Alliance, 2021, v. 4, n. 9, p. 1, doi. 10.26508/lsa.201900523
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- Publication type:
- Article
Multifaceted regulation of hepatic lipid metabolism by YY1.
- Published in:
- Life Science Alliance, 2021, v. 4, n. 7, p. 1, doi. 10.26508/lsa.202000928
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- Publication type:
- Article
PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 5, p. 2408, doi. 10.1093/nar/gkw1186
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- Publication type:
- Article
Maps of context-dependent putative regulatory regions and genomic signal interactions.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 19, p. 9110, doi. 10.1093/nar/gkw800
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- Publication type:
- Article
Nucleosome regulatory dynamics in response to TGFβ.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. 11, p. 6921, doi. 10.1093/nar/gku326
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- Publication type:
- Article
Genetic mapping using fluorescent quantification of allele frequencies in pooled DNA loaded by solid support.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 3, p. 145, doi. 10.1111/j.1399-0004.1997.tb02444.x
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- Publication type:
- Article
Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca<sup>2+</sup> channels in retinal pigment epithelial cells.
- Published in:
- FASEB Journal, 2006, v. 20, n. 1, p. 178, doi. 10.1096/fj.05-4495fje
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- Publication type:
- Article
Looking beyond GWAS: allele-specific transcription factor binding drives the association of GALNT2 to HDL-C plasma levels.
- Published in:
- Lipids in Health & Disease, 2016, v. 15, p. 1, doi. 10.1186/s12944-016-0183-x
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- Publication type:
- Article
Lowe's oculocerebrorenal syndrome - variation in lens changes in the carrier state.
- Published in:
- Acta Ophthalmologica (1755375X), 1991, v. 69, n. 1, p. 102, doi. 10.1111/j.1755-3768.1991.tb02002.x
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- Publication type:
- Article
Placental transfer of quetiapine in relation to P-glycoprotein activity.
- Published in:
- 2007
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- Publication type:
- journal article
A regulatory element associated to NAFLD in the promoter of DIO1 controls LDL-C, HDL-C and triglycerides in hepatic cells.
- Published in:
- Lipids in Health & Disease, 2024, v. 23, n. 1, p. 1, doi. 10.1186/s12944-024-02029-9
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- Publication type:
- Article
A regulatory element associated to NAFLD in the promoter of DIO1 controls LDL-C, HDL-C and triglycerides in hepatic cells.
- Published in:
- Lipids in Health & Disease, 2024, v. 23, n. 1, p. 1, doi. 10.1186/s12944-024-02029-9
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- Publication type:
- Article
Author Correction: Intra- and inter-individual metabolic profiling highlights carnitine and lysophosphatidylcholine pathways as key molecular defects in type 2 diabetes.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Intra- and inter-individual metabolic profiling highlights carnitine and lysophosphatidylcholine pathways as key molecular defects in type 2 diabetes.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-45906-5
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- Publication type:
- Article
Allele specific chromatin signals, 3D interactions, and motif predictions for immune and B cell related diseases.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-39633-0
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- Publication type:
- Article
Monte Carlo feature selection for supervised classification.
- Published in:
- Bioinformatics, 2008, v. 24, n. 1, p. 110, doi. 10.1093/bioinformatics/btm486
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- Publication type:
- Article
Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven-year follow-up of photodynamic treatment of a young boy with choroidal neovascularization.
- Published in:
- Acta Ophthalmologica (1755375X), 2014, v. 92, n. 3, p. 238, doi. 10.1111/aos.12142
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- Publication type:
- Article
A strand specific high resolution normalization method for chip-sequencing data employing multiple experimental control measurements.
- Published in:
- Algorithms for Molecular Biology, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1748-7188-7-2
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- Publication type:
- Article
Combinations of Histone Modifications Mark Exon Inclusion Levels.
- Published in:
- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029911
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- Publication type:
- Article
Identification of the gene responsible for Best macular dystrophy.
- Published in:
- Nature Genetics, 1998, v. 19, n. 3, p. 241, doi. 10.1038/915
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- Publication type:
- Article
Novel genes in cell cycle control and lipid metabolism with dynamically regulated binding sites for sterol regulatory element-binding protein 1 and RNA polymerase II in HepG2 cells detected by chromatin immunoprecipitation with microarray detection.
- Published in:
- FEBS Journal, 2009, v. 276, n. 7, p. 1878, doi. 10.1111/j.1742-4658.2009.06914.x
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- Publication type:
- Article
scSPLAT, a scalable plate-based protocol for single cell WGBS library preparation.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09798-2
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- Publication type:
- Article
A Significant Regulatory Mutation Burden at a High-Affinity Position of the CTCF Motif in Gastrointestinal Cancers.
- Published in:
- Human Mutation, 2016, v. 37, n. 9, p. 904, doi. 10.1002/humu.23014
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- Publication type:
- Article
Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.
- Published in:
- Human Mutation, 1998, v. 12, n. 6, p. 377, doi. 10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I
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- Publication type:
- Article
Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (Norrbottnian type).
- Published in:
- 1992
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- Publication type:
- journal article
Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1.
- Published in:
- Hereditas, 2003, v. 139, n. 1, p. 64, doi. 10.1111/j.1601-5223.2003.01682.x
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- Publication type:
- Article
Single nucleus transcriptomics data integration recapitulates the major cell types in human liver.
- Published in:
- Hepatology Research, 2021, v. 51, n. 2, p. 233, doi. 10.1111/hepr.13585
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- Publication type:
- Article
Integration of whole-body [18F]FDG PET/MRI with non-targeted metabolomics can provide new insights on tissue-specific insulin resistance in type 2 diabetes.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-64524-0
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- Publication type:
- Article
Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing.
- Published in:
- Nucleic Acids Research, 2009, v. 37, n. 22, p. 7498, doi. 10.1093/nar/gkp823
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- Publication type:
- Article
Identification of candidate regulatory SNPs by combination of transcription-factor-binding site prediction, SNP genotyping and haploChIP.
- Published in:
- Nucleic Acids Research, 2009, v. 37, n. 12, p. e85, doi. 10.1093/nar/gkp381
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- Publication type:
- Article
SICTIN: Rapid footprinting of massively parallel sequencing data.
- Published in:
- BioData Mining, 2010, v. 3, p. 4, doi. 10.1186/1756-0381-3-4
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- Publication type:
- Article
ChIP-seq in steatohepatitis and normal liver tissue identifies candidate disease mechanisms related to progression to cancer.
- Published in:
- BMC Medical Genomics, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8794-6-50
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- Publication type:
- Article
Venous thrombosis: factor V G1691A genotyping related to APC resistance as measured by 2 methods.
- Published in:
- European Journal of Haematology, 1997, v. 58, n. 4, p. 229, doi. 10.1111/j.1600-0609.1997.tb01659.x
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- Publication type:
- Article
Functional role of P-glycoprotein in the human blood-placental barrier
- Published in:
- Clinical Pharmacology & Therapeutics, 2005, v. 78, n. 2, p. 123, doi. 10.1016/j.clpt.2005.04.014
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- Publication type:
- Article