4.7 Article

The genetic architecture of human amygdala volumes and their overlap with common brain disorders

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 Multidisciplinary Sciences

Discovery of genomic loci of the human cerebral cortex using genetically informed brain atlases

Carolina Makowski et al.

Summary: Genetic variants affecting regional cortical surface area and thickness in the brain were studied in adults and children, revealing 440 significant loci. The genetic variations in adulthood were found to already be present in childhood, showing signs of negative selection and associations with early neurodevelopment and neuropsychiatric risk.

SCIENCE (2022)

Review Biochemical Research Methods

A review of SNP heritability estimation methods

Mingsheng Tang et al.

Summary: This article reviews the recently developed and commonly used SNP heritability estimation methods for continuous and binary phenotypes, focusing on their model assumptions, parameter optimization, ability to handle multiple phenotypes and longitudinal measurements, as well as their use of individual-level data versus summary statistics.

BRIEFINGS IN BIOINFORMATICS (2022)

Review Neurosciences

Prefrontal cortex, amygdala, and threat processing: implications for PTSD

M. Alexandra Kredlow et al.

Summary: This article reviews the role of the prefrontal cortex in fear processing, discussing foundational research on threat and fear acquisition, extinction, and other fear regulation methods relevant to the treatment of posttraumatic stress disorder. Despite a large body of translational research, many questions remain unanswered and future research directions related to the prefrontal cortex in fear processing and implications for the treatment of posttraumatic stress disorder are outlined.

NEUROPSYCHOPHARMACOLOGY (2022)

Article Multidisciplinary Sciences

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Vassily Trubetskoy et al.

Summary: In this study, a two-stage genome-wide association study was conducted to identify common variants associated with schizophrenia. The results revealed 287 distinct genomic loci and 120 genes likely to be involved in the development of schizophrenia. This research provides valuable insights into the pathophysiology of schizophrenia and offers a resource for further mechanistic studies.

NATURE (2022)

Article Multidisciplinary Sciences

Distributed genetic architecture across the hippocampal formation implies common neuropathology across brain disorders

Shahram Bahrami et al.

Summary: By conducting a genome-wide association analysis, researchers have identified 177 genetic loci associated with the hippocampal formation. These loci overlap with eight brain disorders at different stages of life, suggesting the presence of partly age- and disorder-independent mechanisms in hippocampal pathology.

NATURE COMMUNICATIONS (2022)

Article Genetics & Heredity

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Ruth Chia et al.

Summary: By conducting whole-genome sequencing and genetic analysis, researchers have identified common genetic risk factors and pathways shared between Lewy body dementia, Alzheimer's disease, and Parkinson's disease. This provides a deeper understanding of the complex genetic architecture of these age-related neurodegenerative conditions.

NATURE GENETICS (2021)

Article Neurosciences

An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank

Stephen M. Smith et al.

Summary: This study utilized data from the UK Biobank to identify 692 clusters of associations between genetic variants and imaging phenotypes, including 12 on the X chromosome, revealing pathways related to rare diseases such as the STAR syndrome, Alzheimer's disease, and mitochondrial disorders.

NATURE NEUROSCIENCE (2021)

Article Multidisciplinary Sciences

The genetic architecture of the human thalamus and its overlap with ten common brain disorders

Torbjorn Elvsashagen et al.

Summary: Through a large-scale study using genetic and MRI data, the researchers identified genetic variations affecting thalamic and its nuclei volumes, validated the genetic relationship between the thalamus and cerebral cortex, and found associations with shared variants for ten psychiatric and neurological disorders.

NATURE COMMUNICATIONS (2021)

Review Multidisciplinary Sciences

Treating Parkinson's disease by astrocyte reprogramming: Progress and challenges

Zhuang-Yao D. Wei et al.

Summary: Reprogramming astrocytes into functional dopaminergic neurons has shown promise in increasing dopamine levels and alleviating symptoms of Parkinson's disease in mouse models.

SCIENCE ADVANCES (2021)

Article Biotechnology & Applied Microbiology

Long non-coding RNA VCAN-AS1 promotes the malignant behaviors of breast cancer by regulating the miR-106a-5p-mediated STAT3/HIF-1α pathway

Peng Du et al.

Summary: The study revealed that VCAN-AS1 is upregulated in breast cancer and promotes its progression by regulating the miR-106a-5p-mediated STAT3/HIF-1 alpha pathway, providing a new target for BC therapy.

BIOENGINEERED (2021)

Article Genetics & Heredity

Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes

Isabel Alfradique-Dunham et al.

Summary: The study identified multiple PD risk alleles that may modify clinical manifestations and influence PD motor subtypes. The discovery of a novel variant at the STK32B locus suggests a potential overlap between genetic risk for essential tremor and tremor-dominant PD.

NEUROLOGY-GENETICS (2021)

Review Neurosciences

Roles of glial ion transporters in brain diseases

Shanshan Song et al.

Article Multidisciplinary Sciences

Understanding the genetic determinants of the brain with MOSTest

Dennis van der Meer et al.

NATURE COMMUNICATIONS (2020)

Article Multidisciplinary Sciences

The genetic architecture of human brainstem structures and their involvement in common brain disorders

Torbjorn Elvsashagen et al.

NATURE COMMUNICATIONS (2020)

Review Psychiatry

Glial cells in schizophrenia: a unified hypothesis

Andrea G. Dietz et al.

LANCET PSYCHIATRY (2020)

Article Genetics & Heredity

Identification of common genetic risk variants for autism spectrum disorder

Jakob Grove et al.

NATURE GENETICS (2019)

Article Genetics & Heredity

Genome-wide association study identifies 30 loci associated with bipolar disorder

Eli A. Stahl et al.

NATURE GENETICS (2019)

Article Genetics & Heredity

Genetic architecture of subcortical brain structures in 38,851 individuals

Claudia L. Satizabal et al.

NATURE GENETICS (2019)

Article Biochemistry & Molecular Biology

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

Annalisa Buniello et al.

NUCLEIC ACIDS RESEARCH (2019)

Review Biochemistry & Molecular Biology

Astrocyte Biomarkers in Alzheimer's Disease

Stephen F. Carter et al.

TRENDS IN MOLECULAR MEDICINE (2019)

Article Biochemistry & Molecular Biology

A Network of Noncoding Regulatory RNAs Acts in the Mammalian Brain

Benjamin Kleaveland et al.

Review Psychology, Developmental

The Adolescent Brain Cognitive Development (ABCD) study: Imaging acquisition across 21 sites

B. J. Casey et al.

DEVELOPMENTAL COGNITIVE NEUROSCIENCE (2018)

Article Genetics & Heredity

Distinguishing genetic correlation from causation across 52 diseases and complex traits

Luke J. O'Connor et al.

NATURE GENETICS (2018)

Review Neurosciences

Role of astrocyte-synapse interactions in CNS disorders

Elena Blanco-Suarez et al.

JOURNAL OF PHYSIOLOGY-LONDON (2017)

Article Genetics & Heredity

Concepts, estimation and interpretation of SNP-based heritability

Jian Yang et al.

NATURE GENETICS (2017)

Article Multidisciplinary Sciences

Functional mapping and annotation of genetic associations with FUMA

Kyoko Watanabe et al.

NATURE COMMUNICATIONS (2017)

Review Genetics & Heredity

10 Years of GWAS Discovery: Biology, Function, and Translation

Peter M. Visscher et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Review Neurosciences

The Role of MAPT in Neurodegenerative Diseases: Genetics, Mechanisms and Therapy

Cheng-Cheng Zhang et al.

MOLECULAR NEUROBIOLOGY (2016)

Editorial Material Clinical Neurology

SLC39A14 mutations expand the spectrum of manganese transporter defects causing parkinsonism-dystonia

Bettina Balint et al.

MOVEMENT DISORDERS (2016)

Article Genetics & Heredity

Detection and interpretation of shared genetic influences on 42 human traits

Joseph K. Pickrell et al.

NATURE GENETICS (2016)

Article Endocrinology & Metabolism

Role of CDKN2C Copy Number in Sporadic Medullary Thyroid Carcinoma

Elizabeth G. Grubbs et al.

THYROID (2016)

Article Multidisciplinary Sciences

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

Karin Tuschl et al.

NATURE COMMUNICATIONS (2016)

Article Genetics & Heredity

An atlas of genetic correlations across human diseases and traits

Brendan Bulik-Sullivan et al.

NATURE GENETICS (2015)

Article Genetics & Heredity

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

Brendan K. Bulik-Sullivan et al.

NATURE GENETICS (2015)

Article Biochemical Research Methods

MAGMA: Generalized Gene-Set Analysis of GWAS Data

Christiaan A. de Leeuw et al.

PLOS COMPUTATIONAL BIOLOGY (2015)

Article Genetics & Heredity

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher et al.

NATURE GENETICS (2014)

Article Biochemistry & Molecular Biology

Silencing or knocking out the Na+/Ca2+ exchanger-3 (NCX3) impairs oligodendrocyte differentiation

F. Boscia et al.

CELL DEATH AND DIFFERENTIATION (2012)

Article Biochemistry & Molecular Biology

Annotation of functional variation in personal genomes using RegulomeDB

Alan P. Boyle et al.

GENOME RESEARCH (2012)

Letter Biochemical Research Methods

ChromHMM: automating chromatin-state discovery and characterization

Jason Ernst et al.

NATURE METHODS (2012)

Article Multidisciplinary Sciences

The mystery of missing heritability: Genetic interactions create phantom heritability

Or Zuk et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)

Article Biochemistry & Molecular Biology

Genomic inflation factors under polygenic inheritance

Jian Yang et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2011)

Review Multidisciplinary Sciences

Specification and Morphogenesis of Astrocytes

Marc R. Freeman

SCIENCE (2010)

Article Genetics & Heredity

PLINK: A tool set for whole-genome association and population-based linkage analyses

Shaun Purcell et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Review Physiology

The amygdaloid complex: Anatomy and physiology

P Sah et al.

PHYSIOLOGICAL REVIEWS (2003)