相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3
Pablo Cingolani et al.
FLY (2012)
Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel
Zhen Zhi Tang et al.
HUMAN MOLECULAR GENETICS (2012)
Interaction of the HIV-1 Intasome with Transportin 3 Protein (TNPO3 or TRN-SR2)
Ross Larue et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
Jaakko Sarparanta et al.
NATURE GENETICS (2012)
The GEM mapper: fast, accurate and versatile alignment by filtration
Santiago Marco-Sola et al.
NATURE METHODS (2012)
Fast Computation and Applications of Genome Mappability
Thomas Derrien et al.
PLOS ONE (2012)
A Novel Autosomal Dominant Inclusion Body Myopathy Linked to 7q22.1-31.1
Yan Lu et al.
PLOS ONE (2012)
Clinical and genetic heterogeneity in laminopathies
Anne T. Bertrand et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2011)
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches
Vincenzo Nigro et al.
CURRENT OPINION IN NEUROLOGY (2011)
Mutations affecting interaction of integrase with TNPO3 do not prevent HIV-1 cDNA nuclear import
Alexandra Cribier et al.
RETROVIROLOGY (2011)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
Hereditary Inclusion Body Myopathy: A decade of progress
Marjan Huizing et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Inclusion Body Myositis: A Degenerative Muscle Disease Associated with Intra-Muscle Fiber Multi-Protein Aggregates, Proteasome Inhibition, Endoplasmic Reticulum Stress and Decreased Lysosomal Degradation
Valerie Askanas et al.
BRAIN PATHOLOGY (2009)
Specific combinations of SR proteins associate with single pre-messenger RNAs in vivo and contribute different functions
Petra Bjork et al.
JOURNAL OF CELL BIOLOGY (2009)
Laminopathies and the long strange trip from basic cell biology to therapy
Howard J. Worman et al.
JOURNAL OF CLINICAL INVESTIGATION (2009)
BFAST: An Alignment Tool for Large Scale Genome Resequencing
Nils Homer et al.
PLOS ONE (2009)
Global analysis of host-pathogen interactions that regulate early-stage HIV-1 replication
Renate Konig et al.
CELL (2008)
Transportin-SR2 imports HIV into the nucleus
Frauke Christ et al.
CURRENT BIOLOGY (2008)
Identification of host proteins required for HIV infection through a functional genomic screen
Abraham L. Brass et al.
SCIENCE (2008)
Myotonic dystrophy: RNA-mediated muscle disease
Thurman M. Wheeler et al.
CURRENT OPINION IN NEUROLOGY (2007)
Inclusion-body myositis - A myodegenerative conformational disorder associated with A beta, protein misfolding, and proteasome inhibition
V Askanas et al.
NEUROLOGY (2006)
A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy
M Vorgerd et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
A gene atlas of the mouse and human protein-encoding transcriptomes
AI Su et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Coexistence of X-linked recessive Emery-Dreifuss muscular dystrophy with inclusion body myositis-like morphology
A Fidzianska et al.
ACTA NEUROPATHOLOGICA (2004)
Endocrine regulation of energy metabolism: Review of pathobiochemical and clinical chemical aspects of leptin, ghrelin, adiponectin, and resistin
U Meier et al.
CLINICAL CHEMISTRY (2004)
A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2
L Palenzuela et al.
NEUROLOGY (2003)
Transportin-SR2 mediates nuclear import of phosphorylated SR proteins
MC Lai et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Autosomal dominant limb-girdle muscular dystrophy - A large kindred with evidence for anticipation
J Gamez et al.
NEUROLOGY (2001)
A human importin-β family protein, transportin-SR2, interacts with the phosphorylated RS domain of SR proteins
MC Lai et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
分享论文
