4.8 Article

Germline AGO2 mutations impair RNA interference and human neurological development

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。
Article Biochemistry & Molecular Biology

Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β-catenin signaling

Fatemeh Hassani Nia et al.

JOURNAL OF NEUROCHEMISTRY (2020)

Article Multidisciplinary Sciences

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

Konrad J. Karczewski et al.

NATURE (2020)

Review Cell Biology

Regulation of microRNA biogenesis and its crosstalk with other cellular pathways

Thomas Treiber et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2019)

Letter Genetics & Heredity

Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit

Kristin D. Kernohan et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)

Review Genetics & Heredity

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Antonie D. Kline et al.

NATURE REVIEWS GENETICS (2018)

Review Neurosciences

The Role of the Microtubule Cytoskeleton in Neurodevelopmental Disorders

Micaela Lasser et al.

FRONTIERS IN CELLULAR NEUROSCIENCE (2018)

Article Multidisciplinary Sciences

MAP1B mutations cause intellectual disability and extensive white matter deficit

G. Bragi Walters et al.

NATURE COMMUNICATIONS (2018)

Article Biochemistry & Molecular Biology

Helix-7 in Argonaute2 shapes the microRNA seed region for rapid target recognition

Shannon M. Klum et al.

EMBO JOURNAL (2018)

Article Multidisciplinary Sciences

An Argonaute phosphorylation cycle promotes microRNA-mediated silencing

Ryan J. Golden et al.

NATURE (2017)

Article Biochemistry & Molecular Biology

Exploring the RNA-bound and RNA-free human Argonaute-2 by molecular dynamics simulation method

Ren Kong et al.

CHEMICAL BIOLOGY & DRUG DESIGN (2017)

Article Genetics & Heredity

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Davor Lessel et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Article Biochemistry & Molecular Biology

Phosphorylation of Argonaute proteins affects mRNA binding and is essential for microRNA-guided gene silencing in vivo

Miguel Quevillon Huberdeau et al.

EMBO JOURNAL (2017)

Review Developmental Biology

MicroRNAs in neural development: from master regulators to fine-tuners

Marek Rajman et al.

DEVELOPMENT (2017)

Article Genetics & Heredity

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer et al.

GENETICS IN MEDICINE (2016)

Review Chemistry, Physical

Enhancing Important Fluctuations: Rare Events and Metadynamics from a Conceptual Viewpoint

Omar Valsson et al.

ANNUAL REVIEW OF PHYSICAL CHEMISTRY, VOL 67 (2016)

Article Multidisciplinary Sciences

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

Monkol Lek et al.

NATURE (2016)

Article Genetics & Heredity

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

Maja Hempel et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Article Biochemistry & Molecular Biology

A large-scale functional screen identifies Nova1 and Ncoa3 as regulators of neuronal miRNA function

Peter H. Stoerchel et al.

EMBO JOURNAL (2015)

Article Cell Biology

RNAi pathway participates in chromosome segregation in mammalian cells

Chuan Huang et al.

CELL DISCOVERY (2015)

Article Biochemistry & Molecular Biology

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

Mari J. Tokita et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Biochemical Research Methods

Evol and ProDy for bridging protein sequence evolution and structural dynamics

Ahmet Bakan et al.

BIOINFORMATICS (2014)

Article Genetics & Heredity

A framework for the interpretation of de novo mutation in human disease

Kaitlin E. Samocha et al.

NATURE GENETICS (2014)

Article Multidisciplinary Sciences

Structural basis for microRNA targeting

Nicole T. Schirle et al.

SCIENCE (2014)

Article Chemistry, Multidisciplinary

CHARMM36 all-atom additive protein force field: Validation based on comparison to NMR data

Jing Huang et al.

JOURNAL OF COMPUTATIONAL CHEMISTRY (2013)

Article Chemistry, Multidisciplinary

Dynamic Anchoring of the 3′-End of the Guide Strand Controls the Target Dissociation of Argonaute-Guide Complex

Seung-Ryoung Jung et al.

JOURNAL OF THE AMERICAN CHEMICAL SOCIETY (2013)

Article Chemistry, Physical

Using collective variables to drive molecular dynamics simulations

Giacomo Fiorin et al.

MOLECULAR PHYSICS (2013)

Article Biochemistry & Molecular Biology

Turning catalytically inactive human Argonaute proteins into active slicer enzymes

Judith Hauptmann et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2013)

Article Biochemistry & Molecular Biology

Slicing-Independent RISC Activation Requires the Argonaute PAZ Domain

Shuo Gu et al.

CURRENT BIOLOGY (2012)

Article Biochemistry & Molecular Biology

The N domain of Argonaute drives duplex unwinding during RISC assembly

Pieter Bas Kwak et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2012)

Article Multidisciplinary Sciences

The Crystal Structure of Human Argonaute2

Nicole T. Schirle et al.

SCIENCE (2012)

Article Multidisciplinary Sciences

Crystal structure of the MID-PIWI lobe of a eukaryotic Argonaute protein

Andreas Boland et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)

Review Biochemistry & Molecular Biology

MicroRNAs: Target Recognition and Regulatory Functions

David P. Bartel

Review Neurosciences

microRNAs at the synapse

Gerhard Schratt

NATURE REVIEWS NEUROSCIENCE (2009)

Review Biochemistry & Molecular Biology

Let me count the ways: Mechanisms of gene regulation by miRNAs and siRNAs

Ligang Wu et al.

MOLECULAR CELL (2008)

Article Multidisciplinary Sciences

Switching from repression to activation: MicroRNAs can up-regulate translation

Shobha Vasudevan et al.

SCIENCE (2007)

Article Multidisciplinary Sciences

Quantitative analysis of Argonaute protein reveals microRNA-dependent localization to stress granules

Anthony K. L. Leung et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)

Article Biochemistry & Molecular Biology

Identification of novel argonaute-associated proteins

G Meister et al.

CURRENT BIOLOGY (2005)

Review Chemistry, Multidisciplinary

Scalable molecular dynamics with NAMD

JC Phillips et al.

JOURNAL OF COMPUTATIONAL CHEMISTRY (2005)

Article Biochemistry & Molecular Biology

Human RISC couples microRNA biogenesis and posttranscriptional gene silencing

RI Gregory et al.

Article Multidisciplinary Sciences

Structural insights into mRNA recognition from a PIWI domain-siRNA guide complex

JS Parker et al.

NATURE (2005)

Article Multidisciplinary Sciences

Argonaute2 is the catalytic engine of mammalian RNAi

JD Liu et al.

SCIENCE (2004)

Article Multidisciplinary Sciences

Crystal structure of argonaute and its implications for RISC slicer activity

JJ Song et al.

SCIENCE (2004)

Review Biochemistry & Molecular Biology

Human Argonaute2 mediates RNA cleavage targeted by miRNAs and siRNAs

G Meister et al.

MOLECULAR CELL (2004)

Article Biochemistry & Molecular Biology

Single-stranded antisense siRNAs guide target RNA cleavage in RNAi

J Martinez et al.