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。Genomewide Approach Validates Thiopurine Methyltransferase Activity Is a Monogenic Pharmacogenomic Trait
C. Liu et al.
CLINICAL PHARMACOLOGY & THERAPEUTICS (2017)
Using high-resolution variant frequencies to empower clinical genome interpretation
Nicola Whiffin et al.
GENETICS IN MEDICINE (2017)
A platform for functional assessment of large variant libraries in mammalian cells
Kenneth A. Matreyek et al.
NUCLEIC ACIDS RESEARCH (2017)
Trade- offs between enzyme fitness and solubility illuminated by deep mutational scanning
Justin R. Klesmith et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
Global analysis of protein folding using massively parallel design, synthesis, and testing
Gabriel J. Rocklin et al.
SCIENCE (2017)
AACR Project GENIE: Powering Precision Medicine through an International Consortium
Fabrice Andre et al.
CANCER DISCOVERY (2017)
A statistical framework for analyzing deep mutational scanning data
Alan F. Rubin et al.
GENOME BIOLOGY (2017)
Protein Destabilization as a Common Factor in Diverse Inherited Disorders
Rachel L. Redler et al.
JOURNAL OF MOLECULAR EVOLUTION (2016)
Local fitness landscape of the green fluorescent protein
Karen S. Sarkisyan et al.
NATURE (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Prospective functional classification of all possible missense variants in PPARG
Amit R. Majithia et al.
NATURE GENETICS (2016)
The power of multiplexed functional analysis of genetic variants
Molly Gasperini et al.
NATURE PROTOCOLS (2016)
Inherited PTEN mutations and the prediction of phenotype
Nicholas R. Leslie et al.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2016)
Family-Specific Variants and the Limits of Human Genetics
Brian H. Shirts et al.
TRENDS IN MOLECULAR MEDICINE (2016)
Conformational Stability and Catalytic Activity of PTEN Variants Linked to Cancers and Autism Spectrum Disorders
Sean B. Johnston et al.
BIOCHEMISTRY (2015)
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants
Lea M. Starita et al.
GENETICS (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)
PTEN Functions by Recruitment to Cytoplasmic Vesicles
Adam Naguib et al.
MOLECULAR CELL (2015)
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants
Lea M. Starita et al.
GENETICS (2015)
Phospholipid-binding Sites of Phosphatase and Tensin Homolog (PTEN) EXPLORING THE MECHANISM OF PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE ACTIVATION
Yang Wei et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2015)
A new class of cancer-associated PTEN mutations defined by membrane translocation defects
H-N Nguyen et al.
ONCOGENE (2015)
A rapid, efficient, and economical inverse polymerase chain reaction-based method for generating a site saturation mutant library
Pankaj C. Jain et al.
ANALYTICAL BIOCHEMISTRY (2014)
Cancer-Associated PTEN Mutants Act in a Dominant-Negative Manner to Suppress PTEN Protein Function
Antonella Papa et al.
CELL (2014)
Therapeutic Targeting of Cancers with Loss of PTEN Function
Lloye M. Dillon et al.
CURRENT DRUG TARGETS (2014)
Measuring the activity of protein variants on a large scale using deep mutational scanning
Douglas M. Fowler et al.
NATURE PROTOCOLS (2014)
ClinVar: public archive of relationships among sequence variation and human phenotype
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2014)
Clinical Pharmacogenetics Implementation Consortium Guidelines for Thiopurine Methyltransferase Genotype and Thiopurine Dosing: 2013 Update
M. V. Relling et al.
CLINICAL PHARMACOLOGY & THERAPEUTICS (2013)
High-throughput Analysis of in vivo Protein Stability
Ikjin Kim et al.
MOLECULAR & CELLULAR PROTEOMICS (2013)
Mutational landscape and significance across 12 major cancer types
Cyriac Kandoth et al.
NATURE (2013)
Nomenclature for alleles of the thiopurine methyltransferase gene
Malin L. Appell et al.
PHARMACOGENETICS AND GENOMICS (2013)
Genetic alterations of PTEN in human melanoma
Almass-Houd Aguissa-Toure et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2012)
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma
Michael Krauthammer et al.
NATURE GENETICS (2012)
The functions and regulation of the PTEN tumour suppressor
Min Sup Song et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2012)
Challenges in the management of a patient with Cowden syndrome: case report and literature review
Inga Melbarde-Gorkusa et al.
HEREDITARY CANCER IN CLINICAL PRACTICE (2012)
A continuum model for tumour suppression
Alice H. Berger et al.
NATURE (2011)
Very important pharmacogene summary: ABCB1 (MDR1, P-glycoprotein)
Laura M. Hodges et al.
PHARMACOGENETICS AND GENOMICS (2011)
Role of conformational sampling in computing mutation-induced changes in protein structure and stability
Elizabeth H. Kellogg et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2011)
PTEN loss in the continuum of common cancers, rare syndromes and mouse models
M. Christine Hollander et al.
NATURE REVIEWS CANCER (2011)
Comprehensive Analysis of Missense Variations in the BRCT Domain of BRCA1 by Structural and Functional Assays
Megan S. Lee et al.
CANCER RESEARCH (2010)
Allele-specific tumor spectrum in Pten knockin mice
Hui Wang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
PTEN hamartoma tumor syndrome: An overview
Judith A. Hobert et al.
GENETICS IN MEDICINE (2009)
Enzymatic assembly of DNA molecules up to several hundred kilobases
Daniel G. Gibson et al.
NATURE METHODS (2009)
Global Protein Stability Profiling in Mammalian Cells
Hsueh-Chi Sherry Yen et al.
SCIENCE (2008)
Structural basis of allele variation of human thiopurine-S-methyltransferase
Hong Wu et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2007)
Loss of protein structure stability as a major causative factor in monogenic disease
P Yue et al.
JOURNAL OF MOLECULAR BIOLOGY (2005)
Protein tagging and detection with engineered self-assembling fragments of green fluorescent protein
S Cabantous et al.
NATURE BIOTECHNOLOGY (2005)
The tumour-suppressor function of PTEN requires an N-terminal lipid-binding motif
SM Walker et al.
BIOCHEMICAL JOURNAL (2004)
In vitro characterization of four novel non-functional variants of the thiopurine S-methyltransferase
R Hamdan-Khalil et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2003)
Membrane-binding and activation mechanism of PTEN
S Das et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Phosphorylation of the PTEN tail regulates protein stability and function
F Vazquez et al.
MOLECULAR AND CELLULAR BIOLOGY (2000)