Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 20
Results: 38
Safe and bodywide muscle transduction in young adult Duchenne muscular dystrophy dogs with adeno-associated virus.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5880, doi. 10.1093/hmg/ddv310
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- Article
A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5915, doi. 10.1093/hmg/ddv319
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Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5836, doi. 10.1093/hmg/ddv304
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- Article
Layered genetic control of DNA methylation and gene expression: a locus of multiple sclerosis in healthy individuals.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5733, doi. 10.1093/hmg/ddv294
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- Article
Lyso-Gb3 activates Notch1 in human podocytes.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5720, doi. 10.1093/hmg/ddv291
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- Article
Loss of fibulin-4 disrupts collagen synthesis and maturation: implications for pathology resulting from EFEMP2 mutations.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5867, doi. 10.1093/hmg/ddv308
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Altering 5-hydroxymethylcytosine modification impacts ischemic brain injury.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5855, doi. 10.1093/hmg/ddv307
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A multiancestry study identifies novel genetic associations with CHRNA5 methylation in human brain and risk of nicotine dependence.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5940, doi. 10.1093/hmg/ddv303
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Shared genetics underlying epidemiological association between endometriosis and ovarian cancer.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5955, doi. 10.1093/hmg/ddv306
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Muscle hypertrophy induced by myostatin inhibition accelerates degeneration in dysferlinopathy.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5711, doi. 10.1093/hmg/ddv288
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Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5677, doi. 10.1093/hmg/ddv281
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- Article
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5697, doi. 10.1093/hmg/ddv286
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- Article
Genome-wide association study identifies SNPs in the MHC class II loci that are associated with self-reported history of whooping cough.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5930, doi. 10.1093/hmg/ddv293
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- Article
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5789, doi. 10.1093/hmg/ddv298
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- Article
Activating the translational repressor 4E-BP or reducing S6K-GSK3β activity prevents accelerated axon growth induced by hyperactive mTOR in vivo.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5746, doi. 10.1093/hmg/ddv295
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Engrailed-2 (En2) deletion produces multiple neurodevelopmental defects in monoamine systems, forebrain structures and neurogenesis and behavior.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5805, doi. 10.1093/hmg/ddv301
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Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5667, doi. 10.1093/hmg/ddv280
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- Article
High-throughput genetic characterization of a cohort of Brugada syndrome patients.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5828, doi. 10.1093/hmg/ddv302
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- Article
E-cadherin-defective gastric cancer cells depend on Laminin to survive and invade.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5891, doi. 10.1093/hmg/ddv312
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- Article
Rescue of the abnormal skeletal phenotype in Ts65Dn Down syndrome mice using genetic and therapeutic modulation of trisomic Dyrk1a.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5687, doi. 10.1093/hmg/ddv284
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- Article
A new model to study neurodegeneration in ataxia oculomotor apraxia type 2.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5759, doi. 10.1093/hmg/ddv296
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- Article
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5845, doi. 10.1093/hmg/ddv305
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- Article
Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5775, doi. 10.1093/hmg/ddv297
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- Article
Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5901, doi. 10.1093/hmg/ddv315
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Recent advances in understanding the genetic architecture of type 2 diabetes.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. R85, doi. 10.1093/hmg/ddv264
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Antigen-specific T cell therapies for cancer.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. R67, doi. 10.1093/hmg/ddv270
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Non-coding genetic variants in human disease.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. R102, doi. 10.1093/hmg/ddv259
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Application of single-cell genomics in cancer: promise and challenges.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. R74, doi. 10.1093/hmg/ddv235
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New insights into craniofacial malformations.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. R50, doi. 10.1093/hmg/ddv228
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Strategies for fine-mapping complex traits.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. R111, doi. 10.1093/hmg/ddv260
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Epigenetic mechanisms in diurnal cycles of metabolism and neurodevelopment.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. R1, doi. 10.1093/hmg/ddv234
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Rett syndrome: disruption of epigenetic control of postnatal neurological functions.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. R10, doi. 10.1093/hmg/ddv217
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Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. R60, doi. 10.1093/hmg/ddv254
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Pathways to Parkinsonism Redux: convergent pathobiological mechanisms in genetics of Parkinson's disease.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. R32, doi. 10.1093/hmg/ddv236
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CNVs in neuropsychiatric disorders.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. R45, doi. 10.1093/hmg/ddv253
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Genetics of human metabolism: an update.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. R93, doi. 10.1093/hmg/ddv263
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- Article
Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. R17, doi. 10.1093/hmg/ddv237
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- Article
Genetics and genomics of autism spectrum disorder: embracing complexity.
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- Human Molecular Genetics, 2015, v. 24, n. 20, p. R24, doi. 10.1093/hmg/ddv273
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- Article