A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3′ end processing is associated with intellectual disability in humans

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Partial loss of CFIm25 causes learning deficits and aberrant neuronal alternative polyadenylation

(2020) Callison E Alcott et al.   eLife

Increasing the buffering capacity of minimal media leads to higher protein yield

(2019) Stephan B. Azatian et al.   JOURNAL OF BIOMOLECULAR NMR

Tissue-specific mechanisms of alternative polyadenylation: Testis, brain, and beyond (2018 update)

(2019) Clinton C. MacDonald   Wiley Interdisciplinary Reviews-RNA

WebGestalt 2019: gene set analysis toolkit with revamped UIs and APIs

(2019) Yuxing Liao et al.   NUCLEIC ACIDS RESEARCH

Local protein synthesis is a ubiquitous feature of neuronal pre- and postsynaptic compartments

(2019) Anne-Sophie Hafner et al.   SCIENCE

Two Classes of Secreted Synaptic Organizers in the Central Nervous System

(2018) Michisuke Yuzaki   Annual Review of Physiology

Understanding Neurodevelopmental Disorders: The Promise of Regulatory Variation in the 3′UTRome

(2018) Kai A. Wanke et al.   BIOLOGICAL PSYCHIATRY

Genetics of intellectual disability in consanguineous families

(2018) Hao Hu et al.   MOLECULAR PSYCHIATRY

Cstf2t Regulates expression of histones and histone-like proteins in male germ cells

(2018) P. N. Grozdanov et al.   Andrology

Differential 3’ Processing of Specific Transcripts Expands Regulatory and Protein Diversity Across Neuronal Cell Types

(2018) Saša Jereb et al.   eLife

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Alternative 3′ UTRs direct localization of functionally diverse protein isoforms in neuronal compartments

(2018) Camilla Ciolli Mattioli et al.   NUCLEIC ACIDS RESEARCH

Synaptopathology Involved in Autism Spectrum Disorder

(2018) Shiqi Guang et al.   Frontiers in Cellular Neuroscience

Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction

(2017) Renée Carroll et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

PolyA_DB 3 catalogs cleavage and polyadenylation sites identified by deep sequencing in multiple genomes

(2017) Ruijia Wang et al.   NUCLEIC ACIDS RESEARCH

Transcription elongation rate has a tissue-specific impact on alternative cleavage and polyadenylation in Drosophila melanogaster

(2017) Xiaochuan Liu et al.   RNA

Multifarious Functions of the Fragile X Mental Retardation Protein

(2017) Jenna K. Davis et al.   TRENDS IN GENETICS

Activity-Dependent Regulation of Alternative Cleavage and Polyadenylation During Hippocampal Long-Term Potentiation

(2017) Mariana M. Fontes et al.   Scientific Reports

Dysregulation of Alternative Poly-adenylation as a Potential Player in Autism Spectrum Disorder

(2017) Krzysztof J. Szkop et al.   Frontiers in Molecular Neuroscience

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

(2016) Jennifer M. Bain et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alternative cleavage and polyadenylation in spermatogenesis connects chromatin regulation with post-transcriptional control

(2016) Wencheng Li et al.   BMC BIOLOGY

Sparse multidimensional iterative lineshape-enhanced (SMILE) reconstruction of both non-uniformly sampled and conventional NMR data

(2016) Jinfa Ying et al.   JOURNAL OF BIOMOLECULAR NMR

Distal Alternative Last Exons Localize mRNAs to Neural Projections

(2016) J. Matthew Taliaferro et al.   MOLECULAR CELL

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Alternative polyadenylation of mRNA precursors

(2016) Bin Tian et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The Cstf2t Polyadenylation Gene Plays a Sex-Specific Role in Learning Behaviors in Mice

(2016) Jaryse C. Harris et al.   PLoS One

PAPERCLIP Identifies MicroRNA Targets and a Role of CstF64/64tau in Promoting Non-canonical poly(A) Site Usage

(2016) Hun-Way Hwang et al.   Cell Reports

Two-Dimensional NMR Lineshape Analysis

(2016) Christopher A. Waudby et al.   Scientific Reports

The end of the message: multiple protein–RNA interactions define the mRNA polyadenylation site

(2015) Yongsheng Shi et al.   GENES & DEVELOPMENT

Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects

(2015) Calista K.L. Ng et al.   HUMAN MOLECULAR GENETICS

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

(2015) Iltaf Ahmed et al.   HUMAN MOLECULAR GENETICS

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

(2015) H Hu et al.   MOLECULAR PSYCHIATRY

Alternative Splicing in the Mammalian Nervous System: Recent Insights into Mechanisms and Functional Roles

(2015) Bushra Raj et al.   NEURON

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Systematic Profiling of Poly(A)+ Transcripts Modulated by Core 3’ End Processing and Splicing Factors Reveals Regulatory Rules of Alternative Cleavage and Polyadenylation

(2015) Wencheng Li et al.   PLoS Genetics

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

(2015) Vincenzo A Gennarino et al.   eLife

Alternative polyadenylation in the nervous system: To what lengths will 3′ UTR extensions take us?

(2014) Pedro Miura et al.   BIOESSAYS

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

(2014) Daniel Quang et al.   BIOINFORMATICS

Mutation Screening of the Neurexin 1 Gene in Thai Patients with Intellectual Disability and Autism Spectrum Disorder

(2014) Supaporn Yangngam et al.   Genetic Testing and Molecular Biomarkers

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

CstF-64 supports pluripotency and regulates cell cycle progression in embryonic stem cells through histone 3′ end processing

(2014) Bradford A. Youngblood et al.   NUCLEIC ACIDS RESEARCH

CstF-64 is necessary for endoderm differentiation resulting in cardiomyocyte defects

(2014) Bradford A. Youngblood et al.   Stem Cell Research

X chromosome exome sequencing reveals a novelALG13mutation in a nonsyndromic intellectual disability family with multiple affected male siblings

(2013) Nesrine Bissar-Tadmouri et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Polyadenylation site-specific differences in the activity of the neuronal βCstF-64 protein in PC-12 cells

(2013) Ganesh S. Shankarling et al.   GENE

Widespread and extensive lengthening of 3' UTRs in the mammalian brain

(2013) P. Miura et al.   GENOME RESEARCH

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

The dark energy of proteins comes to light: conformational entropy and its role in protein function revealed by NMR relaxation

(2012) A Joshua Wand   CURRENT OPINION IN STRUCTURAL BIOLOGY

Short RNA Molecules with High Binding Affinity to the KH Motif of A-Kinase Anchoring Protein 1 (AKAP1): Implications for the Regulation of Steroidogenesis

(2012) Petar N. Grozdanov et al.   MOLECULAR ENDOCRINOLOGY

Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation

(2012) Rafael J. Camacho-Garcia et al.   NEUROBIOLOGY OF DISEASE

The τCstF-64 Polyadenylation Protein Controls Genome Expression in Testis

(2012) Wencheng Li et al.   PLoS One

Transcriptome-wide analyses of CstF64-RNA interactions in global regulation of mRNA alternative polyadenylation

(2012) C. Yao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cleavage factor Imis a key regulator of 3′ UTR length

(2012) Andreas R. Gruber et al.   RNA Biology

Genome-wide Analysis of Pre-mRNA 3′ End Processing Reveals a Decisive Role of Human Cleavage Factor I in the Regulation of 3′ UTR Length

(2012) Georges Martin et al.   Cell Reports

RNA polymerase II kinetics inpolopolyadenylation signal selection

(2011) Pedro A B Pinto et al.   EMBO JOURNAL

Spermatogenetic but not immunological defects in mice lacking the τCstF-64 polyadenylation protein

(2011) Kathy Jo Hockert et al.   JOURNAL OF REPRODUCTIVE IMMUNOLOGY

Evidence that cleavage factor Im is a heterotetrameric protein complex controlling alternative polyadenylation

(2010) Sol Kim et al.   GENES TO CELLS

Structure of the Rna15 RRM–RNA complex reveals the molecular basis of GU specificity in transcriptional 3′-end processing factors

(2010) Christina Pancevac et al.   NUCLEIC ACIDS RESEARCH

Quantitative approaches to monitor protein-nucleic acid interactions using fluorescent probes

(2010) J. M. Pagano et al.   RNA

A family of splice variants of CstF-64 expressed in vertebrate nervous systems

(2009) Ganesh S Shankarling et al.   BMC MOLECULAR BIOLOGY

The Hinge Domain of the Cleavage Stimulation Factor Protein CstF-64 Is Essential for CstF-77 Interaction, Nuclear Localization, and Polyadenylation

(2009) J. Andrew Hockert et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular Architecture of the Human Pre-mRNA 3′ Processing Complex

(2009) Yongsheng Shi et al.   MOLECULAR CELL

Consistent blind protein structure generation from NMR chemical shift data

(2008) Y. Shen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Improving NMR protein structure quality by Rosetta refinement: A molecular replacement study

(2008) Theresa A. Ramelot et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Characterization of Rous sarcoma virus polyadenylation site use in vitro

(2008) Nicole L. Maciolek et al.   VIROLOGY