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。Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Marwan K. Tayeh et al.
GENETICS IN MEDICINE (2022)
Can AlphaFold2 predict the impact of missense mutations on structure?
Gwen R. Buel et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2022)
Exome Sequencing Identifies the Extremely Rare ITGAV and FN1 Variants in Early Onset Inflammatory Bowel Disease Patients
Huda Husain Al-Numan et al.
FRONTIERS IN PEDIATRICS (2022)
Diffusion Mechanism Modeling of Metformin in Human Organic Cationic Amino Acid Transporter one and Functional Impact of S189L, R206C, and G401S Mutation
Leydy Cano et al.
FRONTIERS IN PHARMACOLOGY (2021)
The Molecular Function of PURA and Its Implications in Neurological Diseases
Lena Molitor et al.
FRONTIERS IN GENETICS (2021)
Structural Predictive Model of Presenilin-2 Protein and Analysis of Structural Effects of Familial Alzheimer's Disease Mutations
Alejandro Soto-Ospina et al.
BIOCHEMISTRY RESEARCH INTERNATIONAL (2021)
Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause
Lucia Spangenberg et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2021)
Highly accurate protein structure prediction with AlphaFold
John Jumper et al.
NATURE (2021)
Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer's Disease on the Orthosteric Site
Alejandro Soto-Ospina et al.
FRONTIERS IN MOLECULAR BIOSCIENCES (2021)
A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem
Maria Elena Rodriguez-Garcia et al.
JOURNAL OF GENETICS (2020)
Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures
Ivan Landires et al.
GENES (2020)
1233 Mitochondrial Myopathy Making It Hard To Sleep! OSA management in Mitochondrial Myopathy with a variant in SNAPC4 and PURA genes
Ugorji Okorie et al.
SLEEP (2020)
The HDOCK server for integrated protein-protein docking
Yumeng Yan et al.
NATURE PROTOCOLS (2020)
Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication
Ying Qiao et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2019)
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
Margot R. F. Reijnders et al.
JOURNAL OF MEDICAL GENETICS (2018)
Multiscale modeling of enzymes: QM-cluster, QM/MM, and QM/MM/MD: A tutorial review
Shideh Ahmadi et al.
INTERNATIONAL JOURNAL OF QUANTUM CHEMISTRY (2018)
A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target?
Lia Mayorga et al.
MOLECULAR GENETICS AND METABOLISM (2018)
Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA
Keiko Shimojima et al.
HUMAN GENOME VARIATION (2018)
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
Sarah S. Kalia et al.
GENETICS IN MEDICINE (2017)
Genetics of non-syndromic childhood obesity and the use of high-throughput DNA sequencing technologies
Ana Carolina Proenca da Fonseca et al.
JOURNAL OF DIABETES AND ITS COMPLICATIONS (2017)
Patient with a novel purine-rich element binding protein A mutation
Nobuhiko Okamoto et al.
CONGENITAL ANOMALIES (2017)
Candidate gene discovery in autoimmunity by using extreme phenotypes, next generation sequencing and whole exome capture
Angad S. Johar et al.
AUTOIMMUNITY REVIEWS (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA
Maria Clara Bonaglia et al.
MOLECULAR CYTOGENETICS (2015)
De novo mutations in PURA are associated with hypotonia and developmental delay
Akemi J. Tanaka et al.
COLD SPRING HARBOR MOLECULAR CASE STUDIES (2015)
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
Seema R. Lalani et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Assessing the local structural quality of transmembrane protein models using statistical potentials (QMEANBrane)
Gabriel Studer et al.
BIOINFORMATICS (2014)
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability
David Hunt et al.
JOURNAL OF MEDICAL GENETICS (2014)
Whole Exome Sequencing of Extreme Morbid Obesity Patients: Translational Implications for Obesity and Related Disorders
Gilberto Paz-Filho et al.
GENES (2014)
Human intronless genes: Functional groups, associated diseases, evolution, and mRNA processing in absence of splicing
Ewa A. Grzybowska
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2012)
Lack of Pur-alpha alters postnatal brain development and causes megalencephaly
Suvi Hokkanen et al.
HUMAN MOLECULAR GENETICS (2012)
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
Hutton M. Kearney et al.
GENETICS IN MEDICINE (2011)
Regulation of PURA gene transcription by three promoters generating distinctly spliced 5-prime leaders: a novel means of fine control over tissue specificity and viral signals
Margaret J. Wortman et al.
BMC MOLECULAR BIOLOGY (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Multiple roles for Purα in cellular and viral regulation
Martyn K. White et al.
CELL CYCLE (2009)
QMEAN: A comprehensive scoring function for model quality assessment
Pascal Benkert et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2008)
Role of aromatic amino acids in protein-nucleic acid recognition
Christopher M. Baker et al.
BIOPOLYMERS (2007)
Scalable molecular dynamics with NAMD
JC Phillips et al.
JOURNAL OF COMPUTATIONAL CHEMISTRY (2005)
Mechanism of DNA binding and localized strand separation by Purα and comparison with Pur family member, Purβ
MJ Wortman et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2005)
UCSF chimera - A visualization system for exploratory research and analysis
EF Pettersen et al.
JOURNAL OF COMPUTATIONAL CHEMISTRY (2004)
Purα is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse
K Khalili et al.
MOLECULAR AND CELLULAR BIOLOGY (2003)