Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 15
Results: 28
Classification of a frameshift/extended and a stop mutation in WT1 as gain-of-function mutations that activate cell cycle genes and promote Wilms tumour cell proliferation.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 15, p. 3958, doi. 10.1093/hmg/ddu111
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- Article
IgA measurements in over 12 000 Swedish twins reveal sex differential heritability and regulatory locus near CD30L.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4177, doi. 10.1093/hmg/ddu135
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- Article
Localized changes to glycogen synthase kinase-3 and collapsin response mediator protein-2 in the Huntington's disease affected brain.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4051, doi. 10.1093/hmg/ddu119
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- Article
Genetic suppression of β2-adrenergic receptors ameliorates tau pathology in a mouse model of tauopathies.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4024, doi. 10.1093/hmg/ddu116
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- Article
Contents Page.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. NP, doi. 10.1093/hmg/ddu353
- Publication type:
- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 15, p. NP, doi. 10.1093/hmg/ddu356
- Publication type:
- Article
The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4142, doi. 10.1093/hmg/ddu137
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- Article
Genetic prion disease: no role for the immune system in disease pathogenesis?
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4134, doi. 10.1093/hmg/ddu134
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- Article
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4015, doi. 10.1093/hmg/ddu115
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- Article
Abnormal retinal development associated with FRMD7 mutations.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4086, doi. 10.1093/hmg/ddu122
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- Article
Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 3943, doi. 10.1093/hmg/ddu105
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- Article
Overexpression of the calpain-specific inhibitor calpastatin reduces human alpha-Synuclein processing, aggregation and synaptic impairment in [A30P]αSyn transgenic mice.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 3975, doi. 10.1093/hmg/ddu112
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- Article
PNPLA3 has retinyl-palmitate lipase activity in human hepatic stellate cells.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4077, doi. 10.1093/hmg/ddu121
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- Article
Lack of seipin in neurons results in anxiety- and depression-like behaviors via down regulation of PPARγ.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4094, doi. 10.1093/hmg/ddu126
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- Article
Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4185, doi. 10.1093/hmg/ddu192
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- Article
iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4064, doi. 10.1093/hmg/ddu120
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- Article
The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4035, doi. 10.1093/hmg/ddu117
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- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 15, p. NP, doi. 10.1093/hmg/ddu355
- Publication type:
- Article
Allelic expression analysis in the brain suggests a role for heterogeneous insults affecting epigenetic processes in autism spectrum disorders.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4111, doi. 10.1093/hmg/ddu128
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- Article
Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 3907, doi. 10.1093/hmg/ddu102
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- Article
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4103, doi. 10.1093/hmg/ddu127
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- Article
Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damage.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4043, doi. 10.1093/hmg/ddu118
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- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 15, p. NP, doi. 10.1093/hmg/ddu354
- Publication type:
- Article
Comprehensive analysis of gene expression in human retina and supporting tissues.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4001, doi. 10.1093/hmg/ddu114
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- Article
Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 3923, doi. 10.1093/hmg/ddu104
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- Article
Nuclear protein spreading: implication for pathophysiology of neuromuscular diseases.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4125, doi. 10.1093/hmg/ddu129
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- Article
Combined protein- and nucleic acid-level effects of rs1143679 (R77H), a lupus-predisposing variant within ITGAM.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4161, doi. 10.1093/hmg/ddu106
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- Article
Dystrophic mdx mice develop severe cardiac and respiratory dysfunction following genetic ablation of the anti-inflammatory cytokine IL-10.
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- Human Molecular Genetics, 2014, v. 23, n. 15, p. 3990, doi. 10.1093/hmg/ddu113
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- Article