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Nature Genetics, ISSN 1061-4036, 02/2014, Volume 46, Issue 2, pp. 188 - 193
Mitochondrial Ca2+ uptake has key roles in cell life and death. Physiological Ca2+ signaling regulates aerobic metabolism, whereas pathological Ca2+ overload... 
UNIPORTER | DISEASE | GENETICS & HEREDITY | MUSCULAR-DYSTROPHY | CA2+ UPTAKE | CELL-SURVIVAL | PROTEINS | MCU | Immunohistochemistry | Calcium Channels - metabolism | Calcium Signaling - physiology | Humans | DNA, Complementary - genetics | Molecular Sequence Data | Mitochondrial Membrane Transport Proteins - genetics | Histological Techniques | Cation Transport Proteins - metabolism | Base Sequence | Membrane Potential, Mitochondrial - genetics | Cation Transport Proteins - genetics | Quadriceps Muscle - pathology | Real-Time Polymerase Chain Reaction | Calcium-Binding Proteins - metabolism | Mitochondrial Membrane Transport Proteins - metabolism | Mitochondria - metabolism | Sequence Analysis, DNA | Exome - genetics | Phenotype | Analysis of Variance | Pedigree | Extrapyramidal Tracts - pathology | Fluorescent Antibody Technique | Polymorphism, Single Nucleotide - genetics | Learning Disorders - genetics | Movement Disorders - genetics | Muscular Diseases - genetics | Calcium Signaling - genetics | Calcium-Binding Proteins - genetics | Gene mutations | Cellular signal transduction | Muscle diseases | Genetic aspects | Research | Health aspects | Risk factors | Proteins | Medical research | Cell culture | Mitochondria | Genealogy | Biomedical research | Nuclear magnetic resonance--NMR | Mutation | Kinases | Muscular dystrophy
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 4, pp. 326 - 328
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2011, Volume 43, Issue 3, pp. 189 - 196
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2008, Volume 83, Issue 2, pp. 170 - 179
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 878 - 885
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1035 - 1039
Journal Article
Nature Cell Biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
JOUBERT-SYNDROME | RPGRIP1 | TRANSPORT | CENTRIOLE BIOGENESIS | PROTEIN | C-ELEGANS | MUTATIONS | PHOTORECEPTOR CELLS | MASTER REGULATOR | PRIMARY CILIA | CELL BIOLOGY | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article