No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY
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S. Sugano | Yutaka Suzuki | S. Tsuji | J. Takeda | Y. Horikawa | I. Inoue | H. Ishiura | K. Hosomichi | M. Enya
[1] J. Takeda,et al. NEUROD1‐deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features , 2018, Pediatric diabetes.
[2] H. Kiyonari,et al. Exophilin-8 assembles secretory granules for exocytosis in the actin cortex via interaction with RIM-BP2 and myosin-VIIa , 2017, eLife.
[3] A. Hattersley,et al. Precision diabetes: learning from monogenic diabetes , 2017, Diabetologia.
[4] Stephen C. J. Parker,et al. The genetic architecture of type 2 diabetes , 2016, Nature.
[5] Tyler J. Kirby,et al. Integrative mRNA-microRNA analyses reveal novel interactions related to insulin sensitivity in human adipose tissue. , 2016, Physiological genomics.
[6] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[7] J. Takeda,et al. Association of genetic variants of the incretin-related genes with quantitative traits and occurrence of type 2 diabetes in Japanese , 2014, Molecular genetics and metabolism reports.
[8] J. Takeda,et al. Screening of diabetes of youth for hepatocyte nuclear factor 1 mutations: clinical phenotype of HNF1β‐related maturity‐onset diabetes of the young and HNF1α‐related maturity‐onset diabetes of the young in Japanese , 2014, Diabetic medicine : a journal of the British Diabetic Association.
[9] J. Shendure,et al. A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.
[10] C. Rotimi,et al. Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans. , 2012, Human molecular genetics.
[11] J. Miller,et al. Predicting the Functional Effect of Amino Acid Substitutions and Indels , 2012, PloS one.
[12] J. Aerts,et al. Exome Sequencing and Genetic Testing for MODY , 2012, PloS one.
[13] Melanie Bahlo,et al. Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes , 2011, Genome Biology.
[14] M. Gerstein,et al. CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. , 2011, Genome research.
[15] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[16] H. Hakonarson,et al. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.
[17] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[18] Gonçalo R. Abecasis,et al. The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..
[19] P. Stenson,et al. The Human Gene Mutation Database: 2008 update , 2009, Genome Medicine.
[20] Mark I McCarthy,et al. Learning From Molecular Genetics , 2008, Diabetes.
[21] David Warde-Farley,et al. GeneMANIA: a real-time multiple association network integration algorithm for predicting gene function , 2008, Genome Biology.
[22] Guy A Rutter,et al. Insulin vesicle release: walk, kiss, pause ... then run. , 2006, Physiology.
[23] M. Muramatsu,et al. Gene expression profile in rat pancreatic islet and RINm5F cells. , 2005, Journal of molecular endocrinology.
[24] O. Ohara,et al. Expression profile of mRNAs from human pancreatic islet tumors. , 2003, Journal of molecular endocrinology.
[25] A. Hattersley,et al. Genetic cause of hyperglycaemia and response to treatment in diabetes , 2003, The Lancet.
[26] A. Fischer,et al. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). , 2003, The Journal of clinical investigation.
[27] W. Gahl,et al. Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. , 2002, American journal of human genetics.
[28] G I Bell,et al. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. , 2001, The New England journal of medicine.
[29] A. Fischer,et al. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene , 1997, Nature Genetics.
[30] P. Forscher,et al. Brain myosin-V is a two-headed unconventional myosin with motor activity , 1993, Cell.
[31] S. Henikoff,et al. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.
[32] Claude-Alain H. Roten,et al. Fast and accurate short read alignment with Burrows–Wheeler transform , 2009, Bioinform..
[33] Guy A. Rutter,et al. Insulin Vesicle Release : Walk , Kiss , Pause , 2006 .
[34] G. Abecasis,et al. Merlin—rapid analysis of dense genetic maps using sparse gene flow trees , 2002, Nature Genetics.