Mutations of RagA GTPase in mTORC1 Pathway Are Associated with Autosomal Dominant Cataracts

Lanosterol reverses protein aggregation in cataracts

(2015) Ling Zhao et al.   NATURE

Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders

(2014) Daniel C. Koboldt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a novel missense mutation ofMAFin a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature

(2014) Yoko Narumi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mammalian Target of Rapamycin Signaling in Cardiac Physiology and Disease

(2014) Sebastiano Sciarretta et al.   CIRCULATION RESEARCH

RagA, but Not RagB, Is Essential for Embryonic Development and Adult Mice

(2014) Alejo Efeyan et al.   DEVELOPMENTAL CELL

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

A Novel MIP Gene Mutation Analysis in a Chinese Family Affected with Congenital Progressive Punctate Cataract

(2014) Xuchen Ding et al.   PLoS One

Genetics of human cataract

(2013) A Shiels et al.   CLINICAL GENETICS

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans

(2013) Vanita Berry et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Autophagy and mitophagy participate in ocular lens organelle degradation

(2013) M. Joseph Costello et al.   EXPERIMENTAL EYE RESEARCH

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes

(2013) Linda M. Reis et al.   HUMAN GENETICS

Deletion of Autophagy-related 5 (Atg5) andPik3c3Genes in the Lens Causes Cataract Independent of Programmed Organelle Degradation

(2013) Hideaki Morishita et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

mTOR is a key modulator of ageing and age-related disease

(2013) Simon C. Johnson et al.   NATURE

Amino acid signalling upstream of mTOR

(2013) Jenna L. Jewell et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Nutritional modulation of cataract

(2013) Karen A Weikel et al.   NUTRITION REVIEWS

Getting to the finish line with mTORC1-targeted therapy

(2012) Elizabeth Henske   JOURNAL OF CLINICAL INVESTIGATION

Regulation of mTORC1 by the Rag GTPases is necessary for neonatal autophagy and survival

(2012) Alejo Efeyan et al.   NATURE

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

(2012) Jeroen R Huyghe et al.   NATURE GENETICS

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

(2011) Jianjun Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Kaviar: an accessible system for testing SNV novelty

(2011) Gustavo Glusman et al.   BIOINFORMATICS

Crystal structure of the Gtr1p-Gtr2p complex reveals new insights into the amino acid-induced TORC1 activation

(2011) R. Gong et al.   GENES & DEVELOPMENT

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

E2F1 Regulates Cellular Growth by mTORC1 Signaling

(2011) Sebastian Real et al.   PLoS One

mTOR couples cellular nutrient sensing to organismal metabolic homeostasis

(2011) Jessica J. Howell et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Lens Fiber Cell Differentiation and Denucleation Are Disrupted through Expression of the N-Terminal Nuclear Receptor Box of Ncoa6 and Result in p53-dependent and p53-independent Apoptosis

(2010) Wei-Lin Wang et al.   MOLECULAR BIOLOGY OF THE CELL

Regulation of the mTOR Complex 1 Pathway by Nutrients, Growth Factors, and Stress

(2010) Shomit Sengupta et al.   MOLECULAR CELL

mTOR: from growth signal integration to cancer, diabetes and ageing

(2010) Roberto Zoncu et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

TORC-Specific Phosphorylation of Mammalian Target of Rapamycin (mTOR): Phospho-Ser2481 Is a Marker for Intact mTOR Signaling Complex 2

(2009) J. Copp et al.   CANCER RESEARCH

Dominant cataract formation in association with a vimentin assembly disrupting mutation

(2009) M. Muller et al.   HUMAN MOLECULAR GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Autophagy: A lysosomal degradation pathway with a central role in health and disease

(2008) Eeva-Liisa Eskelinen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Impact of posterior subcapsular opacification on vision and visual function among subjects undergoing cataract surgery in rural China: Study of Cataract Outcomes and Up-Take of Services (SCOUTS) in the Caring is Hip Project, Report 5

(2008) N Congdon et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Autophagy in the Pathogenesis of Disease

(2008) Beth Levine et al.   CELL