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Nature, ISSN 0028-0836, 2014, Volume 514, Issue 7521, pp. 228 - 232
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 05/2018, Volume 27, Issue 10, pp. 1743 - 1753
Abstract LonP1 is a mitochondrial matrix protease whose selective substrate specificity is essential for maintaining mitochondrial homeostasis. Recessively... 
TRANSLOCATION | CODAS SYNDROME | DNA | SUBSTRATE | BIOCHEMISTRY & MOLECULAR BIOLOGY | COPY NUMBER | GENETICS & HEREDITY | DEGRADATION | MUTATIONS | TRANSCRIPTION FACTOR | BINDING | AAA PROTEASE | Hip Dislocation, Congenital - metabolism | ATP-Dependent Proteases - genetics | Tooth Abnormalities - physiopathology | Tooth Abnormalities - metabolism | Humans | Mitochondrial Diseases - metabolism | Infant | Male | Leigh Disease - metabolism | Mitochondrial Proteins - genetics | Craniofacial Abnormalities - physiopathology | Osteochondrodysplasias - genetics | Mitochondria - genetics | Craniofacial Abnormalities - metabolism | Eye Abnormalities - metabolism | Craniofacial Abnormalities - genetics | Leigh Disease - physiopathology | Mitochondrial Diseases - genetics | Cell Line | Tooth Abnormalities - genetics | Oxidative Phosphorylation | Hip Dislocation, Congenital - genetics | Mitochondria - pathology | Eye Abnormalities - genetics | Leigh Disease - genetics | Whole Exome Sequencing | Exome - genetics | Osteochondrodysplasias - physiopathology | Growth Disorders - metabolism | Biopsy | Muscle, Skeletal - physiopathology | Eye Abnormalities - physiopathology | Hip Dislocation, Congenital - physiopathology | Mutation | Growth Disorders - genetics | Mitochondrial Diseases - physiopathology | Growth Disorders - physiopathology | Osteochondrodysplasias - metabolism | Index Medicus | transcription factor | translocation | binding | degradation | aaa protease | Genetics & Heredity | Medicinsk genetik | Medical Genetics | Biochemistry & Molecular Biology | mutations | Biokemi och molekylärbiologi | codas syndrome | dna | Biochemistry and Molecular Biology | copy number | substrate
Journal Article
Journal Article
Cell, ISSN 0092-8674, 06/2006, Volume 125, Issue 5, pp. 971 - 986
Journal Article
Journal of Cell Science, ISSN 0021-9533, 07/2013, Volume 126, Issue 13, pp. 2857 - 2866
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 | Index Medicus
Journal Article
Cell Metabolism, ISSN 1550-4131, 2008, Volume 7, Issue 3, pp. 258 - 268
Journal Article
Biochemical Journal, ISSN 0264-6021, 01/2013, Volume 449, Issue 2, pp. 401 - 413
Genetically modified mice mimicking ODDD (oculodentodigital dysplasia), a disease characterized by reduced Cx43 (connexin 43)-mediated gap junctional... 
Development | Milk ejection | Connexin 43 | Mammary gland | Oculodentodigital dysplasia | Gap junctional intercellular communication | development | oculodentodigital dysplasia | BIOCHEMISTRY & MOLECULAR BIOLOGY | milk ejection | BREAST-CANCER | MYOEPITHELIAL CELLS | GAP-JUNCTIONS | RECEPTOR KNOCKOUT MICE | MOUSE MODEL | gap junctional intercellular communication | EXTRACELLULAR-MATRIX | mammary gland | connexin 43 | DECREASED LEVELS | GJA1 MUTATIONS | CONNEXIN43 PHOSPHORYLATION | Gap Junctions - metabolism | Epithelial Cells - metabolism | Oxytocin - pharmacology | Mammary Glands, Animal - abnormalities | Tooth Abnormalities - metabolism | Humans | Lactation - drug effects | Foot Deformities, Congenital - genetics | Foot Deformities, Congenital - metabolism | Male | Green Fluorescent Proteins - genetics | Syndactyly - pathology | Craniofacial Abnormalities - pathology | Female | Craniofacial Abnormalities - metabolism | Eye Abnormalities - metabolism | Craniofacial Abnormalities - genetics | Connexin 43 - genetics | Disease Models, Animal | Foot Deformities, Congenital - pathology | Lactation - genetics | Severity of Illness Index | Gap Junctions - pathology | Green Fluorescent Proteins - metabolism | Tooth Abnormalities - genetics | Connexin 43 - metabolism | Syndactyly - metabolism | Mice, Inbred C57BL | Cells, Cultured | Mice, Transgenic | Eye Abnormalities - genetics | Blotting, Western | Mice, Inbred C3H | Pregnancy | Point Mutation | Animals | Eye Abnormalities - pathology | Mammary Glands, Animal - metabolism | Tooth Abnormalities - pathology | Cell Line, Tumor | Mice | Microscopy, Fluorescence | Syndactyly - genetics | Index Medicus | GFP, green fluorescent protein | WT, wild-type | GJIC, gap junctional intercellular communication | PCNA, proliferating cell nuclear antigen | DMEM, Dulbecco’s modified Eagle’s medium | Cx, connexin | WAP, whey acidic protein | TEB, terminal end bud | ODDD, oculodentodigital dysplasia
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 04/2012, Volume 21, Issue 8, pp. 1808 - 1823
Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2017, Volume 13, Issue 3, pp. e1006679 - e1006679
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2012, Volume 109, Issue 35, pp. 14092 - 14097
The Wnt antagonist Sost has emerged as a key regulator of bone homeostasis through the modulation of Lrp4/5/6 Wnt coreceptors. In humans, lack of Sclerostin... 
Phenotypes | Femur | Bone formation | Chondrocytes | Bones | Osteocytes | Mice | Bone diseases | Osteoblasts | Modulated signal processing | DENSITY | SCLEROSTIN | LRP5 GENE | MEF2C | MULTIDISCIPLINARY SCIENCES | ESCHERICHIA-COLI | RECEPTOR ACTIVATOR | CRE RECOMBINASE | osteocytes | EXPRESSION | VAN-BUCHEM-DISEASE | TRANSGENIC MICE | Hyperostosis - metabolism | Transcriptional Activation - genetics | Age Factors | Glycoproteins - metabolism | Male | Osteochondrodysplasias | Gene Deletion | Osteosclerosis - metabolism | Skull - abnormalities | Female | Osteosclerosis - genetics | Craniofacial Abnormalities - metabolism | Craniofacial Abnormalities - genetics | MEF2 Transcription Factors | Glycoproteins - genetics | Mandible - abnormalities | Hyperostosis - genetics | Skull - metabolism | Myogenic Regulatory Factors - genetics | Syndactyly - metabolism | Myogenic Regulatory Factors - metabolism | Mice, Transgenic | Signal Transduction - genetics | Osteocytes - physiology | Femur - physiology | Animals | Enhancer Elements, Genetic - genetics | Femur - cytology | Bone Remodeling - genetics | Lac Operon | Mandible - metabolism | Syndactyly - genetics | Antagonists (Biochemistry) | Physiological aspects | Homeostasis | Genetic aspects | Research | Health aspects | Signal transduction | Mutation | Rodents | Cells | Index Medicus | Biological Sciences
Journal Article