标题
Prospective functional classification of all possible missense variants in PPARG
作者
关键词
-
出版物
NATURE GENETICS
Volume 48, Issue 12, Pages 1570-1575
出版商
Springer Nature
发表日期
2016-10-18
DOI
10.1038/ng.3700
参考文献
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。- Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -γ (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations
- (2016) T. Demir et al. DIABETIC MEDICINE
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Genetic Misdiagnoses and the Potential for Health Disparities
- (2016) Arjun K. Manrai et al. NEW ENGLAND JOURNAL OF MEDICINE
- Massively Parallel Functional Analysis of BRCA1 RING Domain Variants
- (2015) Lea M. Starita et al. GENETICS
- Massively Parallel Functional Analysis of BRCA1 RING Domain Variants
- (2015) Lea M. Starita et al. GENETICS
- A systematic approach to the reporting of medically relevant findings from whole genome sequencing
- (2014) Heather M McLaughlin et al. BMC Medical Genetics
- Leveraging Cross-Species Transcription Factor Binding Site Patterns: From Diabetes Risk Loci to Disease Mechanisms
- (2014) Melina Claussnitzer et al. CELL
- Saturation editing of genomic regions by multiplex homology-directed repair
- (2014) Gregory M. Findlay et al. NATURE
- Deep mutational scanning: a new style of protein science
- (2014) Douglas M Fowler et al. NATURE METHODS
- Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease
- (2014) NEW ENGLAND JOURNAL OF MEDICINE
- Comprehensive mutational scanning of a kinasein vivoreveals substrate-dependent fitness landscapes
- (2014) Alexandre Melnikov et al. NUCLEIC ACIDS RESEARCH
- Easy quantitative assessment of genome editing by sequence trace decomposition
- (2014) Eva K. Brinkman et al. NUCLEIC ACIDS RESEARCH
- Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes
- (2014) A. R. Majithia et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
- (2013) S. Ellard et al. DIABETOLOGIA
- Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes
- (2013) Jason Flannick et al. NATURE GENETICS
- The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
- (2012) William A. Gahl et al. GENETICS IN MEDICINE
- Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
- (2012) J. A. Tennessen et al. SCIENCE
- Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel
- (2011) Abel González-Pérez et al. AMERICAN JOURNAL OF HUMAN GENETICS
- What can exome sequencing do for you?
- (2011) J. Majewski et al. JOURNAL OF MEDICAL GENETICS
- High-resolution mapping of protein sequence-function relationships
- (2010) Douglas M Fowler et al. NATURE METHODS
- Functional implications of genetic variation in human PPARγ
- (2009) Ellen H. Jeninga et al. TRENDS IN ENDOCRINOLOGY AND METABOLISM
- Fat and Beyond: The Diverse Biology of PPARγ
- (2008) Peter Tontonoz et al. Annual Review of Biochemistry
- Structure of the intact PPAR-γ–RXR-α nuclear receptor complex on DNA
- (2008) Vikas Chandra et al. NATURE
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started