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Journal of Molecular Medicine, ISSN 0946-2716, 11/2014, Volume 92, Issue 11, pp. 1179 - 1200
Journal Article
Cell Cycle, ISSN 1538-4101, 09/2019, Volume 18, Issue 18, pp. 2268 - 2280
Osteoarthritis (OA) is one of the most common bone diseasesas it is reported that the impact of knee osteoarthritis symptomatic form is estimated at... 
Col2a1 | apoptosis | autophagy | HMGB1 | inflammation | Osteoarthritis | CHROMATIN PROTEIN | EXPRESSION | CARTILAGE | CELL BIOLOGY | Index Medicus
Journal Article
Journal of Craniofacial Surgery, ISSN 1049-2275, 05/2016, Volume 28, Issue 8, pp. 2073 - 2075
Kniest dysplasia is an extremely rare form of type II collagenopathy associated with cleft palate, micrognathia, shortened trunk, arms and legs, and club foot.... 
SURGERY | AIRWAY MANAGEMENT | OSTEOGENESIS | MODEL | COL2A1 | mandibular distraction | micrognathia | PIERRE ROBIN-SEQUENCE | Kniest dysplasia | type II collagenopathy | SPECTRUM | BONE | COL2A1 MUTATIONS | Dentistry | Type II Collagenopathy | Kniest Dysplasia | Mandibular Distraction
Journal Article
Archivos de la Sociedad Espanola de Oftalmologia, ISSN 0365-6691, 03/2018, Volume 93, Issue 3, pp. 139 - 142
Cases reports: Three myopic components of a same family came for study because presented severely degraded vitreous, equatorial membranes, retinal pigment... 
COL2A1 | Gene | Genetic variant | Myopia | Syndrome | Stickler
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2019, Volume 179, Issue 4, pp. 534 - 541
Mutations in the COMP , COL9A1 , COL9A2 , COL9A3 , MATN3 , and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases. The genetic... 
COL2A1 | double‐layered patella | multiple epiphyseal dysplasia | novel mutation in | novel mutation in COL2A1 | double-layered patella | CALVE-PERTHES-DISEASE | GENETICS & HEREDITY | FEMORAL-HEAD | FEATURES | FAMILY | Dysplasia | Genetic aspects | Osteoarthritis | Analysis | Phenotypes | Collagen (type IX) | Etiology | Collagen (type II) | Bone dysplasia | Single-nucleotide polymorphism | Mutation | Hip
Journal Article
Molecular Syndromology, ISSN 1661-8769, 05/2018, Volume 9, Issue 3, pp. 134 - 140
Dysspondyloenchondromatosis (DSC) is a rare form of generalized enchondromatosis and characterized by short stature with unequal limb length, multiple... 
COL2A1 | Unequal limb length | Progressive scoliosis | Dysspondyloenchondromatosis | Original
Journal Article
International Journal of Molecular Sciences, ISSN 1661-6596, 05/2017, Volume 18, Issue 5, p. 975
Slow growth and rapid loss of chondrogenic phenotypes are the major problems affecting chronic cartilage lesions. The role of microRNA-195 (miR-195) and its... 
Signal pathway | Col2a1/aggrecan | MiR-195 | Cartilage lesion | Chondrocyte proliferation | FGF18 | cartilage lesion | MICROFRACTURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | chondrocyte proliferation | CHEMISTRY, MULTIDISCIPLINARY | MESENCHYMAL STEM-CELLS | COLLAGEN-II | ARTICULAR-CARTILAGE REPAIR | IN-VIVO | miR-195 | GENE-THERAPY | GROWTH-PLATE | signal pathway | OSTEOCHONDRITIS-DISSECANS | OSTEOARTHRITIS | EXPRESSION | Chondrocytes - cytology | Cell Proliferation | Osteochondritis - genetics | Humans | Osteochondritis - pathology | Fibroblast Growth Factors - genetics | MicroRNAs - metabolism | Case-Control Studies | Collagen Type II - metabolism | Fibroblast Growth Factors - metabolism | Chondrocytes - physiology | Osteochondritis - metabolism | HEK293 Cells | Female | 3' Untranslated Regions | Chondrogenesis | Chondrocytes - metabolism | Cells, Cultured | Rats | Aggrecans - metabolism | Aggrecans - genetics | Rats, Sprague-Dawley | Collagen Type II - genetics | Phenotype | Animals | MicroRNAs - genetics | Knee | Fibroblast growth factor | Collagen (type II) | MiRNA | Homeostasis | Chains | Antisense | Maintenance | Assaying | Ribonucleic acid--RNA | Patients | Anterior cruciate ligament | Cartilage | Genotype & phenotype | Transfection | Inhibitors | Chondrocytes | In vivo methods and tests | Mathematical models | Fibroblast growth factor 18 | Aggrecan | Internet | Lesions | Informatics | Index Medicus
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 06/2015, Volume 32, Issue 3, pp. 323 - 326
Journal Article
Modern Pathology, ISSN 0893-3952, 03/2019, Volume 32, Issue 3, pp. 435 - 445
Dedifferentiated chondrosarcoma is a rare bone sarcoma, whose genetic background remains incompletely understood. Mutations in SUZ12 or EED, which encode... 
SUZ12 | DIAGNOSIS | INHIBITION | COL2A1 | PRC2 | MUTATION | TRANSCRIPTION | COMPONENT | PATHOLOGY | EXPRESSION | POLYCOMB | Polycomb group proteins | Chondrosarcoma | Next-generation sequencing | Sarcoma | Histology | Bone tumors | Mutation | Metastases | Tumors
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2012, Volume 158A, Issue 5, pp. 1204 - 1207
Mutations in COL2A1 , the gene for type II‐collagen, can result in a wide variety of phenotypes depending upon the nature of the mutation. Dominant negative... 
Stickler Syndrome | somatic mosaicism | Kniest dysplasia | COL2A1 | mutations | germline mosaicism | Germline mosaicism | Somatic mosaicism | COL2A1 mutations | GENE | GENETICS & HEREDITY | DYSPLASIA | KNIEST | STICKLER-SYNDROME | Haplotypes | Phenotype | Genes, Dominant | Humans | Family | Mosaicism | Mutation | Collagen Type II - genetics | Index Medicus
Journal Article
Journal of Molecular Medicine, ISSN 0946-2716, 6/2012, Volume 90, Issue 6, pp. 649 - 666
Journal Article
Development, ISSN 0950-1991, 11/2002, Volume 129, Issue 21, pp. 5065 - 5079
The molecular genetic mechanisms of cartilage construction are incompletely understood. Zebrafish embryos homozygous for jellyfish ( jef ) mutations show... 
Cartilage | Sox9a | Pharyngeal arches | Titin | Campomelic dysplasia | Zebrafish | Chondrogenesis | Col2al | DANIO-RERIO | TRANSCRIPTION FACTOR SOX9 | AUTOSOMAL SEX REVERSAL | cartilage | II COLLAGEN GENE | DEVELOPMENTAL BIOLOGY | sox9a | titin | SRY-RELATED GENE | campomelic dysplasia | PAIRED FINS | pharyngeal arches | VERTEBRATE GENOME EVOLUTION | TAIL FORMATION | zebrafish | chondrogenesis | NEURAL CREST | col2a1 | Gene Duplication | Oligodeoxyribonucleotides, Antisense - pharmacology | Chondrogenesis - genetics | Humans | DNA, Complementary - genetics | Oligodeoxyribonucleotides, Antisense - genetics | Zebrafish - embryology | Osteochondrodysplasias - genetics | Gene Expression Regulation, Developmental | Base Sequence | Disease Models, Animal | Cartilage - growth & development | RNA Splicing - drug effects | Cartilage - embryology | Transcription Factors - physiology | Osteochondrodysplasias - embryology | Muscles - embryology | Pharynx - embryology | Transcription Factors - genetics | Zebrafish - growth & development | Zebrafish - genetics | Cartilage - abnormalities | Chondrogenesis - physiology | Animals | Alleles | High Mobility Group Proteins - physiology | Bone Development - genetics | Mutation | SOX9 Transcription Factor | High Mobility Group Proteins - genetics | dlx2 gene | Embryonic development | sox9 gene | col2a1 gene | Index Medicus
Journal Article
Ophthalmology, ISSN 0161-6420, 2014, Volume 121, Issue 8, pp. 1588 - 1597
Purpose The Stickler syndromes are the most common causes of inherited and childhood retinal detachment; however, no consensus exists regarding the... 
Ophthalmology | COL2A1 | COLLAGEN | GENE | ARTHROOPHTHALMOPATHY | COL11A1 | MUTATION | OPHTHALMOLOGY | STOP CODON | CLINICAL-FEATURES | PROGRESSIVE ARTHRO-OPHTHALMOPATHY | FAMILY | Prevention | Retinal detachment | Hospitals | Medicine, Preventive | Preventive health services
Journal Article