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。Determinants of enhancer and promoter activities of regulatory elements
Robin Andersson et al.
NATURE REVIEWS GENETICS (2020)
Decoding the Role of Satellite DNA in Genome Architecture and Plasticity-An Evolutionary and Clinical Affair
Sandra Louzada et al.
GENES (2020)
Pathological mechanism and antisense oligonucleotide-mediated rescue of a non-coding variant suppressing factor 9 RNA biogenesis leading to hemophilia B
Simon Krooss et al.
PLOS GENETICS (2020)
Alternative Splicing Rescues Loss of Common Gamma Chain Function and Results in IL-21R-like Deficiency
David Illig et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2019)
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
Giedre Grigelioniene et al.
NATURE MEDICINE (2019)
RNA structure maps across mammalian cellular compartments
Lei Sun et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2019)
U1 snRNP Telescripting: Suppression of Premature Transcription Termination in Introns as a New Layer of Gene Regulation
Christopher C. Venters et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2019)
Interplay of primary sequence, position and secondary RNA structure determines alternative splicing of LMNA in a pre-mature aging syndrome
Asaf Shilo et al.
NUCLEIC ACIDS RESEARCH (2019)
Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening
Pooja Purswani et al.
FRONTIERS IN PEDIATRICS (2019)
Alternative cleavage and polyadenylation in health and disease
Andreas J. Gruber et al.
NATURE REVIEWS GENETICS (2019)
The roles of structural dynamics in the cellular functions of RNAs
Laura R. Ganser et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2019)
Conservation and Variability of the AUG Initiation Codon Context in Eukaryotes
Greco Hernandez et al.
TRENDS IN BIOCHEMICAL SCIENCES (2019)
A Complex of U1 snRNP with Cleavage and Polyadenylation Factors Controls Telescripting, Regulating mRNA Transcription in Human Cells
Byung Ran So et al.
MOLECULAR CELL (2019)
RNA Secondary Structure-Based Design of Antisense Peptide Nucleic Acids for Modulating Disease-Associated Aberrant Tau Pre-mRNA Alternative Splicing
Alan Ann Lerk Ong et al.
MOLECULES (2019)
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma
Hiromichi Suzuki et al.
NATURE (2019)
The U1 spliceosomal RNA is recurrently mutated in multiple cancers
Shimin Shuai et al.
NATURE (2019)
Association of soluble CD40 levels with -1 C > T CD40 polymorphism and chronic kidney disease in systemic lupus erythematosus
Raziel Tapia-Llanos et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2019)
MicroRNAs and Long Non-coding RNAs in Genetic Diseases
Alessia Finotti et al.
MOLECULAR DIAGNOSIS & THERAPY (2019)
Interleukin (IL)-21 in Inflammation and Immunity During Parasitic Diseases
Shahram Solaymani-Mohammadi et al.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY (2019)
IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature
Che Kang Lim et al.
ALLERGY ASTHMA AND CLINICAL IMMUNOLOGY (2019)
Splicing mutations in human genetic disorders: examples, detection, and confirmation
Anna Abramowicz et al.
JOURNAL OF APPLIED GENETICS (2018)
Sequence, Structure, and Context Preferences of Human RNA Binding Proteins
Daniel Dominguez et al.
MOLECULAR CELL (2018)
Transcriptional Pause Sites Delineate Stable Nucleosome-Associated Premature Polyadenylation Suppressed by U1 snRNP
Anthony C. Chiu et al.
MOLECULAR CELL (2018)
The human noncoding genome defined by genetic diversity
Julia di Iulio et al.
NATURE GENETICS (2018)
Nuclear Lamins: Thin Filaments with Major Functions
Rebecca de Leeuw et al.
TRENDS IN CELL BIOLOGY (2018)
Repeat-associated non-ATG (RAN) translation
John Douglas Cleary et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2018)
Functional 5′ UTR mRNA structures in eukaryotic translation regulation and how to find them (vol 19, pg 158, 2018)
Kathrin Leppek et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2018)
Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In Mice
Joao Luis Neto et al.
GENETICS (2017)
Alternative polyadenylation of mRNA precursors
Bin Tian et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2017)
Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In Mice
Joao Luis Neto et al.
GENETICS (2017)
Protein sequestration as a normal function of long noncoding RNAs and a pathogenic mechanism of RNAs containing nucleotide repeat expansions
Ginny R. Morriss et al.
HUMAN GENETICS (2017)
Pathogenic variants that alter protein code often disrupt splicing
Rachel Soemedi et al.
NATURE GENETICS (2017)
Splicing and transcription touch base: co-transcriptional spliceosome assembly and function
Lydia Herzel et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2017)
U1 snRNP telescripting regulates a size-function-stratified human genome
Jung-Min Oh et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2017)
An RNA structure-mediated, posttranscriptional model of human α-1-antitrypsin expression
Meredith Corley et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
U1 snRNP telescripting regulates a size-function-stratified human genome
Jung-Min Oh et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2017)
An Expanded View of Complex Traits: From Polygenic to Omnigenic
Evan A. Boyle et al.
CELL (2017)
RNP transport in cell biology: the long and winding road
Carolina Eliscovich et al.
CURRENT OPINION IN CELL BIOLOGY (2017)
A 3′UTR polymorphism marks differential KLRG1 mRNA levels through disruption of a miR-584-5p binding site and associates with pemphigus foliaceus susceptibility
Gabriel A. Cipolla et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS (2016)
Escape from epigenetic silencing of lactase expression is triggered by a single-nucleotide change
Dallas M. Swallow et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2016)
Lactase nonpersistence is directed by DNA-variation-dependent epigenetic aging
Viviane Labrie et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2016)
Translational control by 5′-untranslated regions of eukaryotic mRNAs
Alan G. Hinnebusch et al.
SCIENCE (2016)
Escape from epigenetic silencing of lactase expression is triggered by a single-nucleotide change
Dallas M. Swallow et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2016)
Lactase nonpersistence is directed by DNA-variation-dependent epigenetic aging
Viviane Labrie et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2016)
Endosymbiosis and Eukaryotic Cell Evolution
John M. Archibald
CURRENT BIOLOGY (2015)
The end of the message: multiple protein-RNA interactions define the mRNA polyadenylation site
Yongsheng Shi et al.
GENES & DEVELOPMENT (2015)
Genome-wide discovery of human splicing branchpoints
Tim R. Mercer et al.
GENOME RESEARCH (2015)
Alternative 3′ UTRs act as scaffolds to regulate membrane protein localization
Binyamin D. Berkovits et al.
NATURE (2015)
LARP4B is an AU-rich sequence associated factor that promotes mRNA accumulation and translation
Maritta Kuespert et al.
RNA (2015)
A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children
Somayyeh Fahiminiya et al.
HUMAN MOLECULAR GENETICS (2015)
The human splicing code reveals new insights into the genetic determinants of disease
Hui Y. Xiong et al.
SCIENCE (2015)
Neural Tube Defects
Nicholas D. E. Greene et al.
ANNUAL REVIEW OF NEUROSCIENCE, VOL 37 (2014)
The Noncoding RNA Revolution-Trashing Old Rules to Forge New Ones
Thomas R. Cech et al.
CELL (2014)
An NTD-Associated Polymorphism in the 3′ UTR of MTHFD1L can Affect Disease Risk by Altering miRNA Binding
Stefano Minguzzi et al.
HUMAN MUTATION (2014)
Very Early Onset Inflammatory Bowel Disease Associated with Aberrant Trafficking of IL-10R1 and Cure by T Cell Replete Haploidentical Bone Marrow Transplantation
Dhaarini Murugan et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2014)
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
Desiree Schubert et al.
NATURE MEDICINE (2014)
RBPmap: a web server for mapping binding sites of RNA-binding proteins
Inbal Paz et al.
NUCLEIC ACIDS RESEARCH (2014)
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
Hye Sun Kuehn et al.
SCIENCE (2014)
Regulation of alternative splicing of tau exon 10
Wei Qian et al.
NEUROSCIENCE BULLETIN (2014)
Promoter directionality is controlled by U1 snRNP and polyadenylation signals
Albert E. Almada et al.
NATURE (2013)
Adult-specific functions of animal microRNAs
Kailiang Sun et al.
NATURE REVIEWS GENETICS (2013)
Sounds of silence: synonymous nucleotides as a key to biological regulation and complexity
Svetlana A. Shabalina et al.
NUCLEIC ACIDS RESEARCH (2013)
U1 snRNP-mediated poly(A) site suppression Beneficial and deleterious for mRNA fate
Joerg Langemeier et al.
RNA BIOLOGY (2013)
On the importance of cotranscriptional RNA structure formation
Daniel Lai et al.
RNA (2013)
RNA-binding proteins in Mendelian disease
Alfredo Castello et al.
TRENDS IN GENETICS (2013)
Origin and evolution of spliceosomal introns
Igor B. Rogozin et al.
BIOLOGY DIRECT (2012)
U1 snRNP Determines mRNA Length and Regulates Isoform Expression
Michael G. Berg et al.
CELL (2012)
A complex immunodeficiency is based on U1 snRNP-mediated poly(A) site suppression
Joerg Langemeier et al.
EMBO JOURNAL (2012)
Loss of Interleukin-10 Signaling and Infantile Inflammatory Bowel Disease: Implications for Diagnosis and Therapy
Daniel Kotlarz et al.
GASTROENTEROLOGY (2012)
β-Actin mRNA compartmentalization enhances focal adhesion stability and directs cell migration
Zachary B. Katz et al.
GENES & DEVELOPMENT (2012)
A quantitative atlas of polyadenylation in five mammals
Adnan Derti et al.
GENOME RESEARCH (2012)
Gene expression as a quantitative trait: what about translation?
Constantin Polychronakos
JOURNAL OF MEDICAL GENETICS (2012)
Genetics and Regulatory Impact of Alternative Polyadenylation in Human B-Lymphoblastoid Cells
Oh Kyu Yoon et al.
PLOS GENETICS (2012)
Defective IL10 Signaling Defi ning a Subgroup of Patients With Inflammatory Bowel Disease
Bernadette Begue et al.
AMERICAN JOURNAL OF GASTROENTEROLOGY (2011)
Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract
Anne E. Hughes et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
RBPDB: a database of RNA-binding specificities
Kate B. Cook et al.
NUCLEIC ACIDS RESEARCH (2011)
Evolution of lactase persistence: an example of human niche construction
Pascale Gerbault et al.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2011)
Spliceosome Structure and Function
Cindy L. Will et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2011)
Regulation of mRNA Translation and Stability by microRNAs
Marc Robert Fabian et al.
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 79 (2010)
The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing
Shivendra Kishore et al.
HUMAN MOLECULAR GENETICS (2010)
XPC Branch-Point Sequence Mutations Disrupt U2 snRNP Binding, Resulting in Abnormal pre-mRNA Splicing in Xeroderma Pigmentosum Patients
Sikandar G. Khan et al.
HUMAN MUTATION (2010)
U1 snRNP protects pre-mRNAs from premature cleavage and polyadenylation
Daisuke Kaida et al.
NATURE (2010)
Repeat instability as the basis for human diseases and as a potential target for therapy
Arturo Lopez Castel et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2010)
Regulation of alternative splicing by short non-coding nuclear RNAs
Amit Khanna et al.
RNA BIOLOGY (2010)
The SR protein family of splicing factors: master regulators of gene expression
Jennifer C. Long et al.
BIOCHEMICAL JOURNAL (2009)
mRNA Localization: Gene Expression in the Spatial Dimension
Kelsey C. Martin et al.
CELL (2009)
The Spliceosome: Design Principles of a Dynamic RNP Machine
Markus C. Wahl et al.
CELL (2009)
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss
Angeles Mencia et al.
NATURE GENETICS (2009)
Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor
Erik-Oliver Glocker et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Splice-site pairing is an intrinsically high fidelity process
Kristi L. Fox-Walsh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Genotype Analysis Identifies the Cause of the Royal Disease
Evgeny I. Rogaev et al.
SCIENCE (2009)
The Origins of Lactase Persistence in Europe
Yuval Itan et al.
PLOS COMPUTATIONAL BIOLOGY (2009)
New insights into the regulation of T cells by γc family cytokines
Yrina Rochman et al.
NATURE REVIEWS IMMUNOLOGY (2009)
Prader-Willi phenotype caused by paternal deficiency for the HBII-85C/D box small nucleolar RNA cluster
Trilochan Sahoo et al.
NATURE GENETICS (2008)
Splicing regulation: From a parts list of regulatory elements to an integrated splicing code
Zefeng Wang et al.
RNA (2008)
Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus
Robert R. Graham et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations:: A synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer
Karsten Bork Nielsen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14
Georg Bohn et al.
NATURE MEDICINE (2007)
The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C
S Kishore et al.
SCIENCE (2006)
Regulation of translation via mRNA structure in prokaryotes and eukaryotes
M Kozak
GENE (2005)
A Graves' disease-associated Kozak sequence single-nucleotide polymorphism enhances the efficiency of CD40 gene translation:: A case for translational pathophysiology
EM Jacobson et al.
ENDOCRINOLOGY (2005)
Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome
M Runte et al.
HUMAN GENETICS (2005)
Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene:: mutations result in reduced XPC mRNA levels that correlate with cancer risk
SG Khan et al.
HUMAN MOLECULAR GENETICS (2004)
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
G Yeo et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2004)
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
H Ueda et al.
NATURE (2003)
A janus splicing regulatory element modulates HIV-1 tat and rev mRNA production by coordination of hnRNP A1 cooperative binding
V Marchand et al.
JOURNAL OF MOLECULAR BIOLOGY (2002)
Primary immunodeficiency diseases: dissectors of the immune system
RH Buckley
IMMUNOLOGICAL REVIEWS (2002)
Small nucleolar RNAs: An abundant group of noncoding RNAs with diverse cellular functions
T Kiss
CELL (2002)
A variation in 3 ' UTR of hPTP1B increases specific gene expression and associates with insulin resistance
R Di Paola et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
CL Liquori et al.
SCIENCE (2001)
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome
CL Bennett et al.
IMMUNOGENETICS (2001)
Increased efficiency of mRNA 3′ end formation:: a new genetic mechanism contributing to hereditary thrombophilia
NH Gehring et al.
NATURE GENETICS (2001)
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
RJ Hagerman et al.
NEUROLOGY (2001)
Medium-chain Acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-Based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency
BS Andresen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Initial sequencing and analysis of the human genome
ES Lander et al.
NATURE (2001)
分享论文
