tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans

Regulation of Cell Death by Transfer RNA

(2013) Ya-Ming Hou et al.   ANTIOXIDANTS & REDOX SIGNALING

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

(2012) Muzammil Ahmad Khan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

(2012) Lia Abbasi-Moheb et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes

(2012) Miriam Cnop et al.   ANNALS OF NEUROLOGY

Death Protein 5 and p53-Upregulated Modulator of Apoptosis Mediate the Endoplasmic Reticulum Stress-Mitochondrial Dialog Triggering Lipotoxic Rodent and Human  -Cell Apoptosis

(2012) D. A. Cunha et al.   DIABETES

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

(2012) A. Genin et al.   HUMAN MOLECULAR GENETICS

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

(2012)   NATURE GENETICS

The molecular basis for selective inhibition of unconventional mRNA splicing by an IRE1-binding small molecule

(2012) B. C. S. Cross et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

(2011) Cathryn J. Poulton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Transfer RNA Methytransferases and Their Corresponding Modifications in Budding Yeast and Humans: Activities, Predications, and Potential Roles in Human Health

(2011) William L. Towns et al.   DNA AND CELL BIOLOGY

Deficit of tRNALys modification by Cdkal1 causes the development of type 2 diabetes in mice

(2011) Fan-Yan Wei et al.   JOURNAL OF CLINICAL INVESTIGATION

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

(2011) Yasmin Namavar et al.   Orphanet Journal of Rare Diseases

Genes Expressed in Specific Areas of the Human Fetal Cerebral Cortex Display Distinct Patterns of Evolution

(2011) Nelle Lambert et al.   PLoS One

Endoplasmic reticulum stress, obesity and diabetes

(2011) Miriam Cnop et al.   TRENDS IN MOLECULAR MEDICINE

Palmitate induces a pro-inflammatory response in human pancreatic islets that mimics CCL2 expression by beta cells in type 2 diabetes

(2010) M. Igoillo-Esteve et al.   DIABETOLOGIA

tRNA biology charges to the front

(2010) E. M. Phizicky et al.   GENES & DEVELOPMENT

CDKAL1 and type 2 diabetes: a global meta-analysis

(2010) M.A.S. Dehwah et al.   GENETICS AND MOLECULAR RESEARCH

Identification of Eukaryotic and Prokaryotic Methylthiotransferase for Biosynthesis of 2-Methylthio-N6-threonylcarbamoyladenosine in tRNA

(2010) Simon Arragain et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Enhanced Signaling Downstream of Ribonucleic Acid-Activated Protein Kinase-Like Endoplasmic Reticulum Kinase Potentiates Lipotoxic Endoplasmic Reticulum Stress in Human Islets

(2010) Laurence Ladrière et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Distinct high resolution genome profiles of early onset and late onset colorectal cancer integrated with gene expression data identify candidate susceptibility loci

(2010) Marianne Berg et al.   Molecular Cancer

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS

PTPN2, a Candidate Gene for Type 1 Diabetes, Modulates Interferon- -Induced Pancreatic  -Cell Apoptosis

(2009) F. Moore et al.   DIABETES

SNP detection for massively parallel whole-genome resequencing

(2009) R. Li et al.   GENOME RESEARCH

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

(2009) S. Passemard et al.   NEUROLOGY

Systematic identification of cell cycle-dependent yeast nucleocytoplasmic shuttling proteins by prediction of composite motifs

(2009) S. Kosugi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fatty acids and glucolipotoxicity in the pathogenesis of Type 2 diabetes

(2008) Miriam Cnop   BIOCHEMICAL SOCIETY TRANSACTIONS

Mitochondrial dysfunction: Glucokinase downregulation lowers interaction of glucokinase with mitochondria, resulting in apoptosis of pancreatic β-cells

(2008) J LEE et al.   CELLULAR SIGNALLING

Improved Vascular Engraftment and Graft Function After Inhibition of the Angiostatic Factor Thrombospondin-1 in Mouse Pancreatic Islets

(2008) J. Olerud et al.   DIABETES

Six Classes of Nuclear Localization Signals Specific to Different Binding Grooves of Importin α

(2008) Shunichi Kosugi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Initiation and execution of lipotoxic ER stress in pancreatic  -cells

(2008) D. A. Cunha et al.   JOURNAL OF CELL SCIENCE

Evidence that tRNA modifying enzymes are important in vivo targets for 5-fluorouracil in yeast

(2008) M. Gustavsson et al.   RNA