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Journal of Rheumatology, ISSN 0315-162X, 12/2016, Volume 43, Issue 12, pp. 2131 - 2135
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2015, Volume 97, Issue 1, pp. 99 - 110
Journal Article
Journal of Dental Research, ISSN 0022-0345, 2/2013, Volume 92, Issue 2, pp. 173 - 179
Mice carrying a knock-in mutation (Phe377del) in the Ank gene replicate many skeletal characteristics of human craniometaphyseal dysplasia, including... 
craniometaphyseal dysplasia | hyperostosis | bone remodeling | Ankh protein, mouse | incisor | dental cementum | INCISOR TEETH | TOOTH ERUPTION | TISSUE | ARTHRITIS | IN-VITRO | DENTISTRY, ORAL SURGERY & MEDICINE | CEMENTOBLAST GENE-EXPRESSION | PATIENT | CEMENTUM FORMATION | MUTATIONS | ANK | Incisor - abnormalities | Cell Proliferation | Mandibular Diseases - genetics | Cell Count | Bone Remodeling - physiology | Bone Diseases, Developmental - genetics | Integrin-Binding Sialoprotein - analysis | Bone Remodeling - drug effects | Bone Diseases, Developmental - pathology | Extracellular Matrix Proteins - analysis | Cell Shape | Craniofacial Abnormalities - pathology | Hyperostosis - pathology | Phosphate Transport Proteins - genetics | Craniofacial Abnormalities - genetics | Organ Culture Techniques | Disease Models, Animal | Hyperostosis - genetics | Osteoclasts - pathology | Tooth Eruption - physiology | Hypertelorism - genetics | Molar - abnormalities | Mice, Transgenic | Hypertelorism - pathology | Dental Cementum - abnormalities | Tooth Root - pathology | Bone Density Conservation Agents - pharmacology | Gene Knock-In Techniques | Phenotype | Animals | Tooth Abnormalities - pathology | Mandibular Diseases - pathology | Mice | Apoptosis - physiology | Odontoblasts - pathology | Diphosphonates - pharmacology | Tooth Apex - pathology | Research Reports
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2011, Volume 48, Issue 6, pp. 375 - 382
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2016, Volume 25, Issue 3, pp. 546 - 557
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2014, Volume 9, Issue 9, p. e107428
MID1 is a microtubule-associated protein that belongs to the TRIM family. MID1 functions as an ubiquitin E3 ligase, and recently was shown to catalyze the... 
BINDING DOMAINS | SERINE/THREONINE PHOSPHATASES | ZINC FINGERS | SYNDROME GENE-PRODUCT | MICROTUBULES | PHOSPHORYLATION | REGULATORY SUBUNIT ALPHA-4 | MULTIDISCIPLINARY SCIENCES | GBBB SYNDROME | LIGASE MID1 | OPITZ-G/BBB SYNDROME | Transcription Factors - chemistry | Protein Phosphatase 2 - chemistry | Humans | Molecular Sequence Data | Cleft Palate - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Recombinant Fusion Proteins - metabolism | Ubiquitination | Microtubule Proteins - chemistry | Genetic Diseases, X-Linked - genetics | Microtubule Proteins - genetics | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Fibroblasts - metabolism | Protein Structure, Tertiary | Amino Acid Sequence | Hypertelorism - metabolism | Hypospadias - metabolism | Signal Transduction | Gene Expression Regulation | Hypertelorism - genetics | Protein Phosphatase 2 - genetics | Ubiquitin-Protein Ligases - metabolism | Esophagus - metabolism | Microtubule Proteins - metabolism | Models, Molecular | Hypospadias - genetics | Nuclear Proteins - metabolism | Genetic Diseases, X-Linked - metabolism | Hypertelorism - pathology | Recombinant Fusion Proteins - chemistry | Transcription Factors - genetics | Esophagus - abnormalities | Fibroblasts - pathology | Nuclear Proteins - chemistry | Ubiquitin-Protein Ligases - chemistry | Sequence Homology, Amino Acid | Transcription Factors - metabolism | Esophagus - pathology | Sequence Alignment | Intracellular Signaling Peptides and Proteins - chemistry | Cleft Palate - pathology | Protein Phosphatase 2 - metabolism | Genetic Diseases, X-Linked - pathology | Recombinant Fusion Proteins - genetics | Cleft Palate - metabolism | Ubiquitin-Protein Ligases - genetics | Hypospadias - pathology | Ubiquitin | Genetic aspects | Phosphatases | Ligases | Phosphoprotein phosphatase | Birth defects | Phosphatase | Kinases | Zinc | Proteins | Fibroblasts | Protein phosphatase | Mutation | Catalysis | Ubiquitin-protein ligase | Apoptosis
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2012, Volume 158A, Issue 10, pp. 2537 - 2541
Journal Article
The FEBS Journal, ISSN 1742-464X, 07/2017, Volume 284, Issue 14, pp. 2183 - 2193
Mutations of human MID 1 are associated with X‐linked Opitz G Syndrome ( XLOS ), which is characterized by midline birth defects. XLOS ‐observed mutations... 
Ubiquitination | PP2A | E3 ligase | B‐box | TRIM | B-box | REGULATORY SUBUNIT | CATALYTIC SUBUNIT | B-BOXES | UBIQUITIN LIGASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | PROTEIN PHOSPHATASE 2A | BINDING PROTEIN | G/BBB SYNDROME | SENSITIVE SIGNAL-TRANSDUCTION | RING | Transcription Factors - chemistry | Humans | Nuclear Proteins - ultrastructure | Substrate Specificity | Cleft Palate - genetics | Microtubule Proteins - chemistry | Protein Domains | Genetic Diseases, X-Linked - genetics | Microtubule Proteins - genetics | Nuclear Proteins - genetics | Protein Structure, Tertiary | Amino Acid Sequence | Hypertelorism - metabolism | Hypospadias - metabolism | Hypertelorism - genetics | Esophagus - metabolism | Microtubule Proteins - metabolism | Models, Molecular | Hypospadias - genetics | Microtubule Proteins - ultrastructure | Nuclear Proteins - metabolism | Genetic Diseases, X-Linked - metabolism | Hypertelorism - pathology | Transcription Factors - genetics | Transcription Factors - ultrastructure | Esophagus - abnormalities | Nuclear Proteins - chemistry | Sequence Homology, Amino Acid | Transcription Factors - metabolism | Esophagus - pathology | Cleft Palate - pathology | Protein Phosphatase 2 - metabolism | Genetic Diseases, X-Linked - pathology | Cleft Palate - metabolism | Protein Processing, Post-Translational | Mutation | Hypospadias - pathology | Embryonic development | Genetic aspects | Congenital defects | Tertiary structure | Birth defects | Cleft lip/palate | Embryonic growth stage | Embryogenesis | Opitz syndrome | Catalysis | Protein structure | Ubiquitin-protein ligase | Structure-function relationships
Journal Article
DMM Disease Models and Mechanisms, ISSN 1754-8403, 08/2015, Volume 8, Issue 8, pp. 941 - 955
Journal Article
Methods in molecular biology (Clifton, N.J.), ISSN 1064-3745, 2014, Volume 1170, pp. 229 - 266
Journal Article