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oculodentodigital dysplasia (252) 252
index medicus (161) 161
humans (154) 154
animals (129) 129
connexin 43 - genetics (102) 102
mice (73) 73
mutation (73) 73
cell biology (72) 72
connexin 43 - metabolism (72) 72
phenotype (67) 67
gap junctions - metabolism (64) 64
female (57) 57
intercellular communication (55) 55
male (55) 55
gap junctions (51) 51
connexin 43 (50) 50
biochemistry & molecular biology (49) 49
gap junction (49) 49
article (45) 45
connexins - genetics (44) 44
connexin (43) 43
connexins - metabolism (40) 40
expression (38) 38
eye abnormalities - genetics (38) 38
syndactyly - genetics (37) 37
connexin43 (36) 36
genetics & heredity (35) 35
tooth abnormalities - genetics (35) 35
gja1 mutations (34) 34
dysplasia (33) 33
gap-junctions (32) 32
genetic aspects (31) 31
sense organs (31) 31
cx43 (30) 30
cardiovascular system (29) 29
gja1 (28) 28
connexins (27) 27
abnormalities, multiple - genetics (26) 26
dento-digital dysplasia (26) 26
gap junctions - physiology (26) 26
proteins (26) 26
gap junctions - genetics (24) 24
gap-junction channels (24) 24
mutations (24) 24
parathyroid-hormone (24) 24
craniofacial abnormalities - genetics (23) 23
analysis (22) 22
missense mutation (22) 22
neurosciences (22) 22
physiology (22) 22
functional-characterization (21) 21
mice, inbred c57bl (21) 21
cells (20) 20
developmental biology (20) 20
gene (20) 20
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syndactyly (20) 20
biophysics (19) 19
cell communication (19) 19
communication (19) 19
endocrinology & metabolism (19) 19
mutation - genetics (19) 19
osteoblasts - metabolism (19) 19
adult (18) 18
amino acid sequence (18) 18
bone (18) 18
connexin-43 (18) 18
mice, knockout (18) 18
research (18) 18
signal transduction (18) 18
cells, cultured (17) 17
child (17) 17
foot deformities, congenital - genetics (17) 17
gene-expression (17) 17
mutation, missense (17) 17
ophthalmology (17) 17
rats (17) 17
biological phenomena, cell phenomena, and immunity (16) 16
child, preschool (16) 16
gene expression (16) 16
hemichannels (16) 16
in-vivo (16) 16
life sciences (16) 16
molecular sequence data (16) 16
palmoplantar keratoderma (16) 16
cell differentiation (15) 15
channels (15) 15
disease models, animal (15) 15
oddd (15) 15
phosphorylation (15) 15
connexins - chemistry (14) 14
differentiation (14) 14
gap-junction protein (14) 14
localization (14) 14
marie-tooth-disease (14) 14
mice, transgenic (14) 14
osteoblastic cells (14) 14
fingers - abnormalities (13) 13
gene mutations (13) 13
glaucoma (13) 13
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Indian Journal of Ophthalmology, ISSN 0301-4738, 02/2018, Volume 66, Issue 2, pp. 334 - 336
Journal Article
Zhurnal Nevrologii i Psihiatrii imeni S.S. Korsakova, ISSN 1997-7298, 2018, Volume 118, Issue 5, pp. 85 - 91
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2013, Volume 8, Issue 8, p. e73576
Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an... 
OCULODENTODIGITAL DYSPLASIA | FORAMEN MAGNUM DECOMPRESSION | CONNEXIN43 | TGF-BETA | BONE-FORMATION | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | JUNCTIONAL INTERCELLULAR COMMUNICATION | PARATHYROID-HORMONE | PHE377DEL MUTATION | OSTEOBLASTIC CELLS | Amino Acid Sequence | Tooth Abnormalities - diagnosis | Eye Abnormalities - diagnosis | Tooth Abnormalities - genetics | Genetic Association Studies | Humans | Molecular Sequence Data | Foot Deformities, Congenital - diagnosis | Foot Deformities, Congenital - genetics | Mutation, Missense | Eye Abnormalities - genetics | Genes, Recessive | Exome | Connexin 43 - chemistry | Sequence Alignment | Craniofacial Abnormalities - diagnosis | Pedigree | Consanguinity | High-Throughput Nucleotide Sequencing | Syndactyly - diagnosis | Craniofacial Abnormalities - genetics | Connexin 43 - genetics | Syndactyly - genetics | Phosphates | Dysplasia | Genetic aspects | Glutamine | Oculodentodigital dysplasia | Osteocytes | Genomes | Connexin 43 | Osteoblasts | Molecular weight | Proteins | Ethics | Biomedical materials | Missense mutation | Low molecular weights | Bone dysplasia | Bones | Biocompatibility | Deoxyribonucleic acid--DNA | Bone remodelling | Developmental biology | Abnormalities | Gap junctions | C-Terminus | Craniometaphyseal dysplasia | Hospitals | Chondrocytes | Syndactyly | Osteoclasts | Mutation | Bone | Transporter | Deoxyribonucleic acid | DNA
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 06/2015, Volume 135, Issue 6, pp. 1475 - 1478
Journal Article
Journal of Cell Science, ISSN 0021-9533, 05/2018, Volume 131, Issue 9, pp. jcs214635 - jcs214635
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 09/2019, Volume 7, Issue 9, pp. e882 - n/a
Journal Article
Development, ISSN 0950-1991, 10/2005, Volume 132, Issue 19, pp. 4375 - 4386
Journal Article
Biochemical Journal, ISSN 0264-6021, 02/2014, Volume 457, Issue 3, pp. 441 - 449
To date, over 65 mutations in the gene encoding Cx43 (connexin43) have been linked to the autosomal-dominant disease ODDD (oculodentodigital dysplasia). A... 
Bladder | Mutation | Connexin43 (Cx43) | Disease | Oculodentodigital dysplasia | Gap junction | connexin43 (Cx43) | LIFE-CYCLE | MUTANT | disease | oculodentodigital dysplasia | BIOCHEMISTRY & MOLECULAR BIOLOGY | FUNCTIONAL-CHARACTERIZATION | CX43 | mutation | SMOOTH-MUSCLE | CONNEXIN43 | GAP-JUNCTIONS | INTERCELLULAR COMMUNICATION | bladder | gap junction | EXPRESSION | GJA1 MUTATIONS | Gap Junctions - metabolism | Tooth Abnormalities - physiopathology | Tooth Abnormalities - metabolism | Urinary Bladder, Neurogenic - etiology | Foot Deformities, Congenital - metabolism | Male | Syndactyly - pathology | Craniofacial Abnormalities - physiopathology | Urinary Bladder - pathology | Myosin Heavy Chains - metabolism | Muscular Diseases - etiology | Urinary Bladder, Neurogenic - physiopathology | Mice, Mutant Strains | Muscular Diseases - physiopathology | Foot Deformities, Congenital - physiopathology | Craniofacial Abnormalities - pathology | Craniofacial Abnormalities - metabolism | Eye Abnormalities - metabolism | Mutant Proteins - antagonists & inhibitors | Urinary Bladder - chemistry | Connexin 43 - genetics | Disease Models, Animal | Foot Deformities, Congenital - pathology | Connexin 43 - metabolism | Syndactyly - metabolism | Urinary Bladder - metabolism | Cells, Cultured | Cell Communication | Mutant Proteins - metabolism | Muscle, Smooth - metabolism | Muscle, Smooth - chemistry | Urinary Incontinence - etiology | Animals | Muscle Contraction | Eye Abnormalities - pathology | Muscle, Smooth - physiopathology | Tooth Abnormalities - pathology | Urinary Bladder - physiopathology | Eye Abnormalities - physiopathology | Connexin 43 - antagonists & inhibitors | Mice | Syndactyly - physiopathology | Muscle, Smooth - pathology | Amino Acid Substitution
Journal Article
Journal of Glaucoma, ISSN 1057-0829, 04/2019, Volume 28, Issue 4, pp. 357 - 362
PURPOSE:We aimed to present a comprehensive assessment of the ophthalmic characteristics of genetically confirmed oculodentodigital dysplasia (ODDD) in 4... 
oculodentodigital dysplasia (ODDD) | OPHTHALMOLOGY | GJA1 mutation | microcornea | CONNEXIN43 | Genetic aspects | Research | Gene mutations | Ectodermal dysplasia
Journal Article
Biochemical Journal, ISSN 0264-6021, 11/2015, Volume 472, Issue 1, pp. 55 - 69
Oculodentodigital dysplasia (ODDD) is primarily an autosomal dominant disorder linked to over 70 GJA1 gene [connexin43 (Cx43)] mutations. For nearly a decade,... 
Connexin43 | Extracellularmatrix | Oculodentodigital dysplasia | Fibroblast | Gap junctional intercellular communication | Collagen | CONNEXIN-43 HEMICHANNELS | connexin43 | NEUROLOGICAL MANIFESTATIONS | oculodentodigital dysplasia | COLLAGEN GEL CONTRACTION | BIOCHEMISTRY & MOLECULAR BIOLOGY | collagen | DOWN-REGULATION | FUNCTIONAL-CHARACTERIZATION | GAP-JUNCTION PROTEIN | CARDIAC FIBROBLASTS | MUTATIONS CAUSE | fibroblast | INTERCELLULAR COMMUNICATION | gap junctional intercellular communication | CENTRAL-NERVOUS-SYSTEM | extracellular matrix | Tooth Abnormalities - metabolism | Humans | Foot Deformities, Congenital - genetics | Foot Deformities, Congenital - metabolism | Immunoblotting | Syndactyly - pathology | RNA Interference | Craniofacial Abnormalities - pathology | Cell Culture Techniques | Craniofacial Abnormalities - metabolism | Eye Abnormalities - metabolism | Craniofacial Abnormalities - genetics | Connexin 43 - genetics | Disease Models, Animal | Fibroblasts - metabolism | Foot Deformities, Congenital - pathology | Tooth Abnormalities - genetics | Connexin 43 - metabolism | Syndactyly - metabolism | Cells, Cultured | Gene Expression Regulation | Eye Abnormalities - genetics | Reverse Transcriptase Polymerase Chain Reaction | Microscopy, Confocal | Animals | Eye Abnormalities - pathology | Tooth Abnormalities - pathology | Dermis - pathology | Mice | Mutation | Syndactyly - genetics
Journal Article