X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (11) 11
hela cells (8) 8
index medicus (8) 8
mutation (7) 7
research (6) 6
ubiquinone (6) 6
biosynthesis (5) 5
proteins (5) 5
animals (4) 4
article (3) 3
biochemistry & molecular biology (3) 3
child (3) 3
child, preschool (3) 3
deficiency (3) 3
electron transport (3) 3
enzymes (3) 3
gene (3) 3
gene mutations (3) 3
genetic aspects (3) 3
genetics & heredity (3) 3
health aspects (3) 3
mitochondria (3) 3
mitochondrial proteins - genetics (3) 3
mitochondrial proteins - metabolism (3) 3
phenotype (3) 3
saccharomyces cerevisiae (3) 3
ubiquinone - genetics (3) 3
amino acids (2) 2
analysis (2) 2
antilipemic agents (2) 2
ataxia (2) 2
biochemical assays (2) 2
biochemical research methods (2) 2
calcium (2) 2
cell biology (2) 2
cell line (2) 2
cells, cultured (2) 2
cercopithecus aethiops (2) 2
chromosomes (2) 2
coenzyme q (2) 2
cos cells (2) 2
cytochrome oxidase (2) 2
development biology (2) 2
diagnosis (2) 2
disease (2) 2
electron transport complex iv - metabolism (2) 2
fibroblasts - metabolism (2) 2
fluorescence resonance energy transfer (2) 2
genes (2) 2
genetic complementation test (2) 2
green fluorescent proteins - genetics (2) 2
hearing loss, sensorineural - complications (2) 2
hearing loss, sensorineural - genetics (2) 2
hek293 cells (2) 2
heterozygote (2) 2
homozygote (2) 2
human skeletal-muscle (2) 2
infant (2) 2
infant, newborn (2) 2
intracellular signaling peptides and proteins (2) 2
intracellular signaling peptides and proteins - genetics (2) 2
kidney glomerulus (2) 2
kidney glomerulus - metabolism (2) 2
kinases (2) 2
laminin - genetics (2) 2
life sciences (2) 2
male (2) 2
medicine (2) 2
medicine, research & experimental (2) 2
membrane proteins (2) 2
membrane proteins - genetics (2) 2
metabolism (2) 2
mice (2) 2
mitochondria - enzymology (2) 2
mitochondrial proteins (2) 2
nephrotic syndrome (2) 2
nephrotic syndrome - complications (2) 2
nephrotic syndrome - genetics (2) 2
podocytes - metabolism (2) 2
rats (2) 2
respiratory-chain (2) 2
risk factors (2) 2
saccharomyces-cerevisiae (2) 2
transcription (2) 2
transcription, genetic (2) 2
transfection (2) 2
ubiquinone - analogs & derivatives (2) 2
wt1 proteins - genetics (2) 2
zebrafish (2) 2
3',5'-cyclic-amp phosphodiesterases - genetics (1) 1
3',5'-cyclic-amp phosphodiesterases - metabolism (1) 1
60 applied life sciences (1) 1
610 medicine & health (1) 1
[ sdv.bdd ] life sciences [q-bio]/development biology (1) 1
abnormalities, multiple (1) 1
abnormalities, multiple - drug therapy (1) 1
abnormalities, multiple - enzymology (1) 1
abnormalities, multiple - genetics (1) 1
abridged index medicus (1) 1
activated receptor-alpha (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


JOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 05/2011, Volume 121, Issue 5, pp. 2013 - 2024
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some... 
MEDICINE, RESEARCH & EXPERIMENTAL | OXIDATIVE STRESS | GENE | COENZYME-Q BIOSYNTHESIS | DIPHOSPHATE SYNTHASE SUBUNIT-2 | NPHS2 | GLOMERULAR PROTEIN | UBIQUINONE BIOSYNTHESIS | COQ DEFICIENCY | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | SACCHAROMYCES-CEREVISIAE | Deafness | Gene mutations | Genetic aspects | Nephrotic syndrome | Research | Health aspects | Risk factors
Journal Article
PLoS Biology, ISSN 1544-9173, 08/2018, Volume 16, Issue 8, p. e2005886
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/2012, Volume 49, Issue 3, pp. 187 - 191
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 21 - 21
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 10/2009, Volume 284, Issue 42, pp. 28926 - 28934
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 11/2006, Volume 175, Issue 3, pp. 441 - 451
There is a growing appreciation that the cyclic adenosine monophosphate (cAMP)–protein kinase A (PKA) signaling pathway is organized to form transduction units... 
Journal Article
JOURNAL OF CELL BIOLOGY, ISSN 0021-9525, 11/2006, Volume 175, Issue 3, pp. 441 - 451
Journal Article
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, ISSN 0006-291X, 07/2008, Volume 372, Issue 1, pp. 35 - 39
Defects in genes involved in coenzyme Q (CoQ) biosynthesis cause primary CoQ deficiency, a severe multisystem disorders presenting as progressive... 
ubiquinone | RESPIRATORY-CHAIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | ATAXIA | NEPHROPATHY | SYNTHASE | BIOPHYSICS | biosynthesis | coenzyme Q deficiency | MUTATIONS | PROTEINS | UBIQUINONE DEFICIENCY | coenzyme Q | GLYCEROL | LUNGS | MITOCHONDRIA | SACCHAROMYCES CEREVISIAE | TRANSCRIPTION | PANCREAS | UBIQUINONE | CHROMOSOMES | 60 APPLIED LIFE SCIENCES | HELA CELLS | NUCLEOTIDES | AMINO ACIDS | BIOSYNTHESIS | GENES | LIVER
Journal Article
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 11/2006, Volume 175, Issue 3, p. 441
  There is a growing appreciation that the cyclic adenosine monophosphate (cAMP)-protein kinase A (PKA) signaling pathway is organized to form transduction... 
Studies | Cellular biology | Protein synthesis | Models | Kinases
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 11/2006, Volume 175, Issue 3, pp. 441 - 451
There is a growing appreciation that the cyclic adenosine monophosphate (cAMP)-protein kinase A (PKA) signaling pathway is organized to form transduction units... 
Second messengers | Proteins | Enzymes | Receptors | HEK293 cells | Imaging | Cell membranes | Sensors | Plasma diffusion | Cytosol
Journal Article
ISSN 1750-1172, 2012
Background: Mutations in SCO2 cause cytochrome c oxidase deficiency (COX) and a fatal infantile cardioencephalomyopathy. SCO2 encodes a protein involved in COX... 
Medicine | Pathology | Copper--Metabolism | Therapeutics--Research | Cytochrome oxidase | Antilipemic agents
Journal Article
The Journal of clinical investigation, 05/2011, Volume 121, Issue 5, p. 2013
Journal Article