Prospective functional classification of all possible missense variants in PPARG

[1]  Peter Szolovits,et al.  Genetic Misdiagnoses and the Potential for Health Disparities. , 2016, The New England journal of medicine.

[2]  D. Savage,et al.  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, Diabetic medicine : a journal of the British Diabetic Association.

[3]  James Y. Zou Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[4]  Michael Frankfurter,et al.  Bioinformatics For Geneticists , 2016 .

[5]  David L. Young,et al.  Massively Parallel Functional Analysis of BRCA1 RING Domain Variants , 2015, Genetics.

[6]  Matthew S. Lebo,et al.  A systematic approach to the reporting of medically relevant findings from whole genome sequencing , 2014, BMC Medical Genetics.

[7]  John Spertus,et al.  Inactivating mutations in NPC1L1 and protection from coronary heart disease. , 2014, The New England journal of medicine.

[8]  B. van Steensel,et al.  Easy quantitative assessment of genome editing by sequence trace decomposition , 2014, Nucleic acids research.

[9]  Pierre Fontanillas,et al.  Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes , 2014, Proceedings of the National Academy of Sciences.

[10]  S. Fields,et al.  Deep mutational scanning: a new style of protein science , 2014, Nature Methods.

[11]  Jay Shendure,et al.  Saturation Editing of Genomic Regions by Multiplex Homology-Directed Repair , 2014, Nature.

[12]  T. Mikkelsen,et al.  Comprehensive mutational scanning of a kinase in vivo reveals substrate-dependent fitness landscapes , 2014, Nucleic acids research.

[13]  Bernhard Horsthemke,et al.  Leveraging Cross-Species Transcription Factor Binding Site Patterns: From Diabetes Risk Loci to Disease Mechanisms , 2014, Cell.

[14]  Abstr Act,et al.  Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease , 2014 .

[15]  Inactivating Mutations in NPC 1 L 1 and Protection from Coronary Heart Disease , 2014 .

[16]  Stefan Johansson,et al.  Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes , 2013, Nature Genetics.

[17]  M. Weedon,et al.  Improved genetic testing for monogenic diabetes using targeted next-generation sequencing , 2013, Diabetologia.

[18]  Jacob A. Tennessen,et al.  Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes , 2012, Science.

[19]  Rena A. Godfrey,et al.  The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases , 2011, Genetics in Medicine.

[20]  Nada Jabado,et al.  What can exome sequencing do for you? , 2011, Journal of Medical Genetics.

[21]  A. Gonzalez-Perez,et al.  Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. , 2011, American journal of human genetics.

[22]  D. Baker,et al.  High Resolution Mapping of Protein Sequence–Function Relationships , 2010, Nature Methods.

[23]  E. Kalkhoven,et al.  Functional implications of genetic variation in human PPARγ , 2009, Trends in Endocrinology & Metabolism.

[24]  Yoshitomo Hamuro,et al.  Structure of the intact PPAR-γ–RXR-α nuclear receptor complex on DNA , 2008, Nature.

[25]  Peter Tontonoz,et al.  Fat and beyond: the diverse biology of PPARgamma. , 2008, Annual review of biochemistry.

[26]  S. O’Rahilly,et al.  Non-DNA binding, dominant-negative, human PPARγ mutations cause lipodystrophic insulin resistance , 2006, Cell metabolism.

[27]  A. Garg Acquired and inherited lipodystrophies. , 2004, The New England journal of medicine.

[28]  F. Gonzalez,et al.  Adipocyte-specific Gene Expression and Adipogenic Steatosis in the Mouse Liver Due to Peroxisome Proliferator-activated Receptor γ1 (PPARγ1) Overexpression* , 2003, The Journal of Biological Chemistry.

[29]  J. Reddy,et al.  Adipocyte-specific gene expression and adipogenic steatosis in the mouse liver due to peroxisome proliferator-activated receptor gamma1 (PPARgamma1) overexpression. , 2003, The Journal of biological chemistry.

[30]  Eric S. Lander,et al.  The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes , 2000, Nature Genetics.

[31]  E S Lander,et al.  The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. , 2000, Nature genetics.

[32]  S. O’Rahilly,et al.  Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension , 1999, Nature.

[33]  R. Evans,et al.  PPARγ Promotes Monocyte/Macrophage Differentiation and Uptake of Oxidized LDL , 1998, Cell.

[34]  R. Evans,et al.  PPARgamma promotes monocyte/macrophage differentiation and uptake of oxidized LDL. , 1998, Cell.

[35]  B. Spiegelman,et al.  15-Deoxy-Δ 12,14-Prostaglandin J 2 is a ligand for the adipocyte determination factor PPARγ , 1995, Cell.

[36]  B. Spiegelman,et al.  15-Deoxy-delta 12, 14-prostaglandin J2 is a ligand for the adipocyte determination factor PPAR gamma. , 1995, Cell.

[37]  C McRae,et al.  Myocardial infarction. , 2019, Australian family physician.