Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 6
Results: 25
Interaction between the ligand-binding domain of the LDL receptor and the C-terminal domain of PCSK9 is required for PCSK9 to remain bound to the LDL receptor during endosomal acidification.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1402, doi. 10.1093/hmg/ddr578
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- Article
Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1374, doi. 10.1093/hmg/ddr575
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- Article
A TAT–Frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1230, doi. 10.1093/hmg/ddr554
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- Article
Detailed metabolic and genetic characterization reveals new associations for 30 known lipid loci.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1444, doi. 10.1093/hmg/ddr581
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- Article
Editorial Board.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. NP, doi. 10.1093/hmg/dds068
- Publication type:
- Article
Cover Page.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. NP, doi. 10.1093/hmg/dds067
- Publication type:
- Article
VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1299, doi. 10.1093/hmg/ddr559
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- Article
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1410, doi. 10.1093/hmg/ddr579
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- Article
GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1248, doi. 10.1093/hmg/ddr555
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- Publication type:
- Article
A critical role for the PAR-1/MARK-tau axis in mediating the toxic effects of Aβ on synapses and dendritic spines.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1384, doi. 10.1093/hmg/ddr576
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- Article
The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1287, doi. 10.1093/hmg/ddr558
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- Article
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1260, doi. 10.1093/hmg/ddr556
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- Publication type:
- Article
Comparative gene expression analysis between coronary arteries and internal mammary arteries identifies a role for the TES gene in endothelial cell functions relevant to coronary artery disease.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1364, doi. 10.1093/hmg/ddr574
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- Publication type:
- Article
Genetic associations with lipoprotein subfractions provide information on their biological nature.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1433, doi. 10.1093/hmg/ddr580
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- Publication type:
- Article
Long-term memory deficits in Huntington's disease are associated with reduced CBP histone acetylase activity.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1203, doi. 10.1093/hmg/ddr552
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- Publication type:
- Article
Variants in ASB10 are associated with open-angle glaucoma.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1336, doi. 10.1093/hmg/ddr572
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 6, p. NP, doi. 10.1093/hmg/dds069
- Publication type:
- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 6, p. NP, doi. 10.1093/hmg/dds066
- Publication type:
- Article
Identification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIP.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1325, doi. 10.1093/hmg/ddr569
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- Article
A meckelin–filamin A interaction mediates ciliogenesis.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1272, doi. 10.1093/hmg/ddr557
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- Article
Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1419, doi. 10.1093/hmg/ddr570
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- Publication type:
- Article
ES cell differentiation system recapitulates the establishment of imprinted gene expression in a cell-type-specific manner.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1391, doi. 10.1093/hmg/ddr577
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- Article
Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1312, doi. 10.1093/hmg/ddr568
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- Publication type:
- Article
Identification of a Tbx1/Tbx2/Tbx3 genetic pathway governing pharyngeal and arterial pole morphogenesis.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1217, doi. 10.1093/hmg/ddr553
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- Article
Roles of the Drosophila LRRK2 homolog in Rab7-dependent lysosomal positioning.
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- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1350, doi. 10.1093/hmg/ddr573
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- Article