X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (96) 96
humans (69) 69
exons (52) 52
animals (44) 44
mutation (36) 36
proteins (35) 35
alternative splicing (34) 34
exons - genetics (34) 34
genetics & heredity (31) 31
base sequence (30) 30
genetic aspects (30) 30
molecular sequence data (29) 29
biochemistry & molecular biology (27) 27
research (26) 26
mice (25) 25
research article (25) 25
rna splicing (25) 25
gene expression (24) 24
genes (24) 24
female (23) 23
male (23) 23
rna, messenger - genetics (23) 23
expression (22) 22
splicing (20) 20
exon skipping (19) 19
gene (19) 19
genetics (19) 19
exon (18) 18
identification (16) 16
medicine (16) 16
rna (16) 16
amino acid sequence (15) 15
analysis (15) 15
cell biology (14) 14
muscular dystrophy (14) 14
science (14) 14
dystrophin (13) 13
molecular biology (13) 13
biotechnology & applied microbiology (12) 12
genomes (12) 12
health aspects (12) 12
introns (12) 12
multidisciplinary sciences (12) 12
reverse transcriptase polymerase chain reaction (12) 12
rna, messenger - metabolism (12) 12
alternative splicing - genetics (11) 11
biology (11) 11
dna (11) 11
gene mutations (11) 11
physiological aspects (11) 11
rodents (11) 11
cells (10) 10
disease (10) 10
duchenne muscular dystrophy (10) 10
dystrophin - genetics (10) 10
genomics (10) 10
life sciences (10) 10
messenger-rna (10) 10
mutations (10) 10
polymerase chain reaction (10) 10
adult (9) 9
cancer (9) 9
disease models, animal (9) 9
introns - genetics (9) 9
medicine, research & experimental (9) 9
muscular dystrophy, duchenne - genetics (9) 9
pedigree (9) 9
phenotype (9) 9
rna splice sites - genetics (9) 9
transcription (9) 9
binding (8) 8
cells, cultured (8) 8
congenital, hereditary, and neonatal diseases and abnormalities (8) 8
diagnosis (8) 8
duchenne's muscular dystrophy (8) 8
fibroblasts (8) 8
medical research (8) 8
messenger rna (8) 8
mutation - genetics (8) 8
point mutation (8) 8
protein binding (8) 8
rna precursors - genetics (8) 8
rna splicing - genetics (8) 8
sequence deletion (8) 8
spinal muscular atrophy (8) 8
studies (8) 8
tumor cells, cultured (8) 8
alleles (7) 7
article (7) 7
binding sites (7) 7
cell line, tumor (7) 7
deoxyribonucleic acid--dna (7) 7
dna mutational analysis (7) 7
dna, complementary - genetics (7) 7
gene therapy (7) 7
kinases (7) 7
localization (7) 7
nervous system diseases (7) 7
protein isoforms - genetics (7) 7
rna-binding proteins - metabolism (7) 7
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Human Mutation, ISSN 1059-7794, 10/2004, Volume 24, Issue 4, pp. 312 - 320
The enzyme carnitine‐acylcarnitine translocase (CACT) is involved in the transport of long‐chain fatty acids into mitochondria. CACT deficiency is a... 
SLC25A20 | fatty acids | metabolic disease | cardiomyopathy | mitochondria | mutation analysis | Metabolic disease | Mitochondria | Mutation analysis | Cardiomyopathy | Fatty acids | CDNA | RAT-LIVER MITOCHONDRIA | IDENTIFICATION | CARRIER | TRANSPORT | GENE | CODING REGION | PURIFICATION | GENETICS & HEREDITY | PROTEINS | RECONSTITUTION | Sequence Deletion | Lipid Metabolism, Inborn Errors - genetics | Escherichia coli | Humans | Recombinant Fusion Proteins - physiology | Child, Preschool | Molecular Sequence Data | Male | Structure-Activity Relationship | Mutation, Missense | North America | Membrane Transport Proteins - physiology | Membrane Transport Proteins - deficiency | DNA Mutational Analysis | Membrane Transport Proteins - genetics | Carnitine Acyltransferases - chemistry | Fatal Outcome | Female | Fatty Acids - metabolism | Infant, Newborn | Amino Acid Sequence | Introns - genetics | Oxidation-Reduction | RNA Splice Sites - genetics | Carnitine Acyltransferases - deficiency | Exons - genetics | Genotype | Mitochondria - metabolism | Genes, Recessive | Genetic Heterogeneity | Membrane Transport Proteins - chemistry | Spain | Point Mutation | Lipid Metabolism, Inborn Errors - epidemiology | Italy | Mutation | Carnitine Acyltransferases - physiology | Amino Acid Substitution | Carnitine Acyltransferases - genetics | Index Medicus
Journal Article
Nature, ISSN 0028-0836, 10/2011, Volume 478, Issue 7367, pp. 127 - 131
Journal Article
Nature Medicine, ISSN 1078-8956, 2015, Volume 21, Issue 3, pp. 270 - 275
Journal Article
Journal Article
Genome Biology, ISSN 1474-7596, 10/2018, Volume 19, Issue 1, pp. 164 - 164
Journal Article
Cell Reports, ISSN 2211-1247, 06/2019, Volume 27, Issue 13, pp. 3808 - 3817.e7
Many metazoan genes express alternative long 3′ UTR isoforms in the nervous system, but their functions remain largely unclear. In , the gene generates short... 
CRISPR | alternative splicing | 3′ UTR | exon skipping | alternative cleavage and polyadenylation | MinION | axon guidance | Elav | Dscam1 | WIDESPREAD | BDNF MESSENGER-RNA | SPECIFICITY | LINKS | LOCAL TRANSLATION | DIVERSITY | EXPRESSION | DROSOPHILA DSCAM | MORPHOLOGY | REGION | CELL BIOLOGY
Journal Article
Journal Article
Skeletal Muscle, ISSN 2044-5040, 03/2018, Volume 8, Issue 1, pp. 11 - 11
Background: Mutations in the titin gene (TTN) cause a large spectrum of diseases affecting skeletal and/or cardiac muscle. TTN includes 363 coding exons, a... 
RNA-sequencing | Exon usage | Alternative splicing events | Titin | Titinopathies | Splicing pattern | ISOFORMS | CARDIOMYOPATHY | INVOLVEMENT | TISSUE-SPECIFIC EXPRESSION | NEBULIN | CELL BIOLOGY | GENE | RNA-SEQ | SEQUENCE | MUTATION | BINDING | Index Medicus
Journal Article
Journal Article