A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview (Q36463097)

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English	A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

14 August 2017

1 reference

Europe PubMed Central

A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 August 2017

David N. Cooper

3

1 reference

Europe PubMed Central

PubMed publication ID

14 August 2017

author name string

Jian-Min Chen

1

1 reference

Europe PubMed Central

PubMed publication ID

14 August 2017

Claude Férec

2

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Europe PubMed Central

PubMed publication ID

14 August 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

28 April 2006

1 reference

Europe PubMed Central

PubMed publication ID

14 August 2017

1 reference

Europe PubMed Central

PubMed publication ID

14 August 2017

120

1 reference

Europe PubMed Central

PubMed publication ID

14 August 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

14 August 2017

1-21

1 reference

Europe PubMed Central

PubMed publication ID

14 August 2017

Sequence variation in the 3'-untranslated region of the dopamine transporter gene and attention-deficit hyperactivity disorder (ADHD).

1 reference

https://api.crossref.org/works/10.1007%2FS00439-006-0180-7

21 January 2018

The VNTR polymorphism of the human dopamine transporter (DAT1) gene affects gene expression

1 reference

https://api.crossref.org/works/10.1007%2FS00439-006-0180-7

21 January 2018

Structure and function of poly(A) binding proteins

1 reference

https://api.crossref.org/works/10.1007%2FS00439-006-0180-7

21 January 2018

No support for association between the dopamine transporter (DAT1) gene and ADHD.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-006-0180-7

21 January 2018

Mutation in an alpha1-antitrypsin enhancer results in an interleukin-6 deficient acute-phase response due to loss of cooperativity between transcription factors

1 reference

https://api.crossref.org/works/10.1007%2FS00439-006-0180-7

21 January 2018

Prothrombin Gene Variants in Non-Caucasians with Fetal Loss and Intrauterine Growth Retardation

1 reference

https://api.crossref.org/works/10.1007%2FS00439-006-0180-7

21 January 2018

Products of in vitro cleavage and polyadenylation of simian virus 40 late pre-mRNAs

1 reference

https://api.crossref.org/works/10.1007%2FS00439-006-0180-7

21 January 2018

Identification of alternate polyadenylation sites and analysis of their tissue distribution using EST data.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The dopamine transporter and attention-deficit/hyperactivity disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alpha-thalassaemia caused by a poly(A) site mutation reveals that transcriptional termination is linked to 3' end processing in the human alpha 2 globin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association between dopamine transporter (DAT1) genotype, left-sided inattention, and an enhanced response to methylphenidate in attention-deficit hyperactivity disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The transcriptional landscape of the mammalian genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association of the T-cell regulatory gene CTLA4 with Graves' disease and autoimmune thyroid disease in the Japanese

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Poly(A)-dependent transcription termination: continued communication of the poly(A) signal with the polymerase is required long after extrusion in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation screening for the prothrombin variant G20210A by melting point analysis with the Light Cycler system: atypical results, detection of the variant C20209T and possible clinical implications.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HLA-G allelic variants are associated with differences in the HLA-G mRNA isoform profile and HLA-G mRNA levels.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patterns of variant polyadenylation signal usage in human genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage disequilibrium between human leukocyte antigen (HLA) class II and HLA-G--possible implications for human reproduction and autoimmune disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The prothrombin 3'end formation signal reveals a unique architecture that is sensitive to thrombophilic gain-of-function mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A large-scale analysis of mRNA polyadenylation of human and mouse genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RNA pathogenesis of the myotonic dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Systematic discovery of regulatory motifs in human promoters and 3' UTRs by comparison of several mammals

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aberrant mRNAs with extended 3' UTRs are substrates for rapid degradation by mRNA surveillance

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased efficiency of mRNA 3′ end formation: a new genetic mechanism contributing to hereditary thrombophilia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel beta-thalassemia mutation in a beta-thalassemia intermedia patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Satellog: a database for the identification and prioritization of satellite repeats in disease association studies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of genetically high risk individuals to lung cancer by DNA polymorphisms of the cytochrome P45 0IA1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Zipcodes and postage stamps: mRNA localisation signals and their trans-acting binding proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CTLA4 is differentially associated with autoimmune diseases in the Dutch population

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Runx1 is essential for hematopoietic commitment at the hemangioblast stage of development in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cleavage site determinants min the mammalian polydenylation signal

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel beta-thalassemia intermedia phenotype containing Nt494+129T-->C and NT494+132C-->A mutations in cis and a Nt168C-->T (beta(o) 39 point) mutation in trans

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transient expression analysis of allelic variants of a VNTR in the dopamine transporter gene (DAT1)

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carboxy-terminal amino acid sequence of a human fibrinogen .gamma.-chain variant (.gamma.')

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of the gamma chain of the human IL-2 receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity in polyadenylation cleavage sites in mammalian mRNA sequences: implications for SAGE analysis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retroviral transduction of IL2RG into CD34+ cells from X-linked severe combined immunodeficiency patients permits human T- and B-cell development in sheep chimeras

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Strong polyadenylation and weak pausing combine to cause efficient termination of transcription in the human Ggamma-globin gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparative analysis of 1196 orthologous mouse and human full-length mRNA and protein sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adiponectin receptor 1 gene (ADIPOR1) as a candidate for type 2 diabetes and insulin resistance

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a novel prothrombin variant, Prothrombin C20209T, as a modifier of thrombotic risk among African-Americans

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional analysis of point mutations in the AAUAAA motif of the SV40 late polyadenylation signal

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The spinocerebellar ataxia 8 noncoding RNA causes neurodegeneration and associates with staufen in Drosophila.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel β-thalassemia alleles: Poly A signal (AATAAA→AAAA) and −92 C→T

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic Linkage of Lung Cancer-Associated MspI Polymorphisms with Amino Acid Replacement in the Heme Binding Region of the Human Cytochrome P450IA1 Gene1

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Point mutations in AAUAAA and the poly (A) addition site: effects on the accuracy and efficiency of cleavage and polyadenylation in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for a preferential targeting of 3'-UTRs by cis-encoded natural antisense transcripts

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HLA-G and IL-10 in serum in relation to HLA-G genotype and polymorphisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microarray analysis shows that some microRNAs downregulate large numbers of target mRNAs

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 3' untranslated region of messenger RNA: A molecular 'hotspot' for pathology?

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure and expression of the human insulin-like growth factor genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aberrant termination triggers nonsense-mediated mRNA decay

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The dopamine transporter gene and the impulsivity phenotype in attention deficit hyperactivity disorder: a case-control association study in a Korean sample

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of the Conserved AAUAAA Sequence: Four AAUAAA Point Mutants Prevent Messenger RNA 3′ End Formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of N-acetyl transferase 1 and 2 polymorphisms on bladder cancer risk in Caucasians

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of prothrombin gene polymorphism at position 20209 (PT20209C/T): pilot study in a black population in the United Kingdom

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Budd-Chiari syndrome in a patient heterozygous for the point mutation C20221T of the prothrombin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RNA ligands selected by cleavage stimulation factor contain distinct sequence motifs that function as downstream elements in 3'-end processing of pre-mRNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple transcript cleavage precedes polymerase release in termination by RNA polymerase II

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel polyadenylation mutations leading to beta(+)-thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Remote control of gene transcription

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HLA-G genotype is associated with fetoplacental growth

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lack of evidence for genetic association to RUNX1 binding site at PSORS2 in different German psoriasis cohorts

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compound heterozygosity for two new mutations in the beta-globin gene [codon 9 (+TA) and polyadenylation site (AATAAA-->AAAAAA)] leads to thalassemia intermedia in a Tunisian patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The variable number of tandem repeats element in DAT1 regulates in vitro dopamine transporter density

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Investigation of the chromosome 17q25 PSORS2 locus in atopic dermatitis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Point mutation in a 3' flanking sequence of the alpha-1-antitrypsin gene associated with chronic respiratory disease occurs in a regulatory sequence

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of the globin genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

alpha-thalassemia caused by a 16 bp deletion in the 3' untranslated region of the alpha 2-globin gene including the first nucleotide of the poly A signal sequence

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of the human gamma-fibrinogen gene. Alternate mRNA splicing near the 3' end of the gene produces gamma A and gamma B forms of gamma-fibrinogen.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence variants in SLITRK1 are associated with Tourette's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of psoriasis to 17q terminus.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association of the cytotoxic T lymphocyte-associated antigen 4 gene with type 1 diabetes: evidence for independent effects of two polymorphisms on the same haplotype block

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 14 bp deletion-insertion polymorphism in the 3' UT region of the HLA-G gene influences HLA-G mRNA stability

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Statistical features of human exons and their flanking regions

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of naturally occurring and recombinant human N-acetyltransferase variants encoded by NAT1

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cutting edge: negative regulation of immune synapse formation by anchoring lipid raft to cytoskeleton through Cbp-EBP50-ERM assembly

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative poly(A) site selection in complex transcription units: means to an end?

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two mutations in the beta-globin polyadenylylation signal reveal extended transcripts and new RNA polyadenylylation sites

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Delta-thalassemia due to a mutation in an erythroid-specific binding protein sequence 3' to the delta-globin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polymorphisms of the CYP1A1 and GSTM1 gene involved in oral squamous cell carcinoma in association with a cigarette dose

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Eukaryotic mRNA 3' processing: a common means to different ends

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Downstream elements of mammalian pre-mRNA polyadenylation signals: primary, secondary and higher-order structures.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Computational analysis of 3'-ends of ESTs shows four classes of alternative polyadenylation in human, mouse, and rat

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel polyadenylation signal mutation in the alpha 2-globin gene causing alpha thalassaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Meta-analysis of family-based association studies between the dopamine transporter gene and attention deficit hyperactivity disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human arylamine N-acetyltransferase genes: isolation, chromosomal localization, and functional expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human D-type cyclin

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel point mutation in the 3' region of the prothrombin gene at position 20221 in a Lebanese/Syrian family

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 14 bp deletion polymorphism in the HLA-G gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In silico genetics: identification of a functional element regulating H2-Ealpha gene expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In silico detection of control signals: mRNA 3'-end-processing sequences in diverse species

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic variation in the fibrinogen gamma gene increases the risk for deep venous thrombosis by reducing plasma fibrinogen gamma' levels

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Integrative annotation of 21,037 human genes validated by full-length cDNA clones

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular studies of trophoblast HLA-G: polymorphism, isoforms, imprinting and expression in preimplantation embryo

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of the arylsulfatase A gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cis-acting regulatory variation in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Upstream sequence elements enhance poly(A) site efficiency of the C2 complement gene and are phylogenetically conserved

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An ATG repeat in the 3'-untranslated region of the human resistin gene is associated with a decreased risk of insulin resistance.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

G20210A is a functional mutation in the prothrombin gene; effect on protein levels and 3'-end formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Untranslated regions of mRNAs

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of a noncanonical poly(A) site reveals a tripartite mechanism for vertebrate poly(A) site recognition

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lack of association of SLC22A4, SLC22A5, SLC9A3R1 and RUNX1 variants in psoriatic arthritis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of 14-bp deletion in the HLA-G gene in the maintenance of pregnancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The relationship between the prothrombin upstream sequence element and the G20210A polymorphism: the influence of a competitive environment for mRNA 3'-end formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Formation of mRNA 3' ends in eukaryotes: mechanism, regulation, and interrelationships with other steps in mRNA synthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single-nucleotide polymorphisms of the KCNS3 gene are significantly associated with airway hyperresponsiveness

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polymorphisms in fatty acid-binding protein-3 (FABP3) - putative association with type 2 diabetes mellitus

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human Gene Mutation Database (HGMD): 2003 update

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of a novel point mutation of the prothrombin gene at position 20209.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The implications of structured 5' untranslated regions on translation and disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hb H disease in a Turkish family resulting from the interaction of a deletional alpha-thalassaemia-1 and a newly discovered poly A mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biology and functions of human leukocyte antigen-G in health and sickness

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transcription termination and 3' processing: the end is in site!

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative polyadenylation of cyclooxygenase-2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The ENCODE (ENCyclopedia Of DNA Elements) Project

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The G20210A mutation does not affect the stability of prothrombin mRNA in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Splicing in action: assessing disease causing sequence changes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Eukaryotic mRNA decapping

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of RNA cleavage at the adenovirus-2 L3 polyadenylation site

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No association between atopic dermatitis and the SLC9A3R1-NAT9 RUNX1 binding site polymorphism in Japanese patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alpha-thalassaemia caused by a polyadenylation signal mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional analysis of two polymorphisms in the 3'-UTR of the human prothrombin gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic polymorphism of drug-metabolizing enzymes and susceptibility to oral cancer.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bioinformatic identification of candidate cis-regulatory elements involved in human mRNA polyadenylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16645853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-006-0180-7

1 reference

Europe PubMed Central

PubMed publication ID

14 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 August 2017

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