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pseudoachondroplasia (282) 282
humans (182) 182
multiple epiphyseal dysplasia (160) 160
cartilage oligomeric matrix protein (134) 134
matrilin proteins (116) 116
comp (100) 100
female (95) 95
male (94) 94
mutation (94) 94
extracellular matrix proteins - genetics (91) 91
index medicus (89) 89
glycoproteins - genetics (87) 87
mutations (87) 87
cartilage (85) 85
oligomeric matrix protein (84) 84
animals (81) 81
genetics & heredity (79) 79
osteochondrodysplasias - genetics (72) 72
biochemistry & molecular biology (71) 71
collagen (57) 57
gene (54) 54
cell biology (52) 52
mice (51) 51
adult (49) 49
child (49) 49
extracellular matrix proteins - metabolism (49) 49
dysplasia (45) 45
radiography (45) 45
achondroplasia - genetics (43) 43
adolescent (43) 43
phenotype (43) 43
glycoproteins - metabolism (42) 42
child, preschool (39) 39
molecular sequence data (36) 36
extracellular-matrix (35) 35
orthopedics (35) 35
pedigree (35) 35
amino acid sequence (33) 33
genetic aspects (33) 33
proteins (32) 32
articular-cartilage (31) 31
identification (31) 31
middle aged (31) 31
achondroplasia (30) 30
cells, cultured (30) 30
chondrocytes - metabolism (29) 29
osteoarthritis (29) 29
genotype (28) 28
osteochondrodysplasias - diagnostic imaging (28) 28
musculoskeletal diseases (27) 27
cartilage - metabolism (26) 26
endoplasmic-reticulum (26) 26
expression (26) 26
ix collagen (25) 25
analysis (24) 24
base sequence (24) 24
diagnosis (24) 24
extracellular matrix (24) 24
dna mutational analysis (23) 23
osteochondrodysplasias - pathology (23) 23
dwarfism (22) 22
genes (21) 21
comp gene (20) 20
apoptosis (19) 19
cell-death (19) 19
domain (19) 19
musculoskeletal system (19) 19
rheumatology (19) 19
arthritis (18) 18
article (18) 18
collagen type ix - genetics (18) 18
immunohistochemistry (18) 18
pediatrics (18) 18
thrombospondins - genetics (18) 18
achondroplasia - pathology (17) 17
chondrocytes (17) 17
family (17) 17
gene mutations (17) 17
psach (17) 17
skeletal dysplasia (17) 17
cartilage oligomeric matrix protein - genetics (16) 16
disease (16) 16
matrix protein (16) 16
osteochondrodysplasias - diagnosis (16) 16
polymerase chain reaction (16) 16
protein binding (16) 16
protein structure, tertiary (16) 16
research (16) 16
tendon (16) 16
binding (15) 15
binding sites (15) 15
calcium-binding (15) 15
achondroplasia - metabolism (14) 14
aged (14) 14
calcium - metabolism (14) 14
disease models, animal (14) 14
extracellular matrix - metabolism (14) 14
genetics (14) 14
mutation - genetics (14) 14
rats (14) 14
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Journal Article
Journal Article
Science, ISSN 0036-8075, 4/2011, Volume 332, Issue 6028, pp. 478 - 484
The growth factor progranulin (PGRN) has been implicated in embryonic development, tissue repair, tumorigenesis, and inflammation, but its receptors remain... 
Cartilage | Immunization | Antiinflammatories | Medical treatment | REPORTS | Collagens | Antibodies | Bones | Arthritis | Mice | Inflammation | TUMOR-NECROSIS-FACTOR | GENE | MULTIDISCIPLINARY SCIENCES | HOST-DEFENSE | DEGRADATION | OLIGOMERIC MATRIX PROTEIN | GRANULIN-EPITHELIN PRECURSOR | ADAMTS-7 | MUTATIONS | TRANSCRIPTION FACTOR | PSEUDOACHONDROPLASIA | Recombinant Proteins - therapeutic use | Tumor Necrosis Factor-alpha - metabolism | Arthritis, Experimental - drug therapy | Recombinant Fusion Proteins - pharmacology | Humans | Middle Aged | Recombinant Fusion Proteins - therapeutic use | Intercellular Signaling Peptides and Proteins - chemistry | Male | Receptors, Tumor Necrosis Factor, Type I - metabolism | Recombinant Fusion Proteins - metabolism | Anti-Inflammatory Agents, Non-Steroidal - pharmacology | T-Lymphocytes, Regulatory - immunology | Arthritis, Experimental - pathology | Young Adult | Intercellular Signaling Peptides and Proteins - metabolism | Cartilage, Articular - metabolism | Receptors, Tumor Necrosis Factor, Type II - metabolism | Adult | Female | Protein Interaction Domains and Motifs | Anti-Inflammatory Agents, Non-Steroidal - metabolism | T-Lymphocytes, Regulatory - physiology | Arthritis, Experimental - physiopathology | Signal Transduction | Intercellular Signaling Peptides and Proteins - genetics | Mice, Transgenic | Arthritis, Experimental - immunology | Mice, Inbred Strains | Receptors, Tumor Necrosis Factor, Type I - genetics | Receptors, Tumor Necrosis Factor, Type II - genetics | Mice, Knockout | Cartilage, Articular - pathology | Animals | Anti-Inflammatory Agents, Non-Steroidal - therapeutic use | Adolescent | Ligands | Aged | Intercellular Signaling Peptides and Proteins - therapeutic use | Care and treatment | Genetic aspects | Properties | Tumor necrosis factor | Growth factors
Journal Article
CELLULAR AND MOLECULAR LIFE SCIENCES, ISSN 1420-682X, 03/2008, Volume 65, Issue 5, pp. 672 - 686
Thrombospondins are large secreted, multimodular, calcium-binding glycoproteins that have complex roles in mediating cellular processes. Determination of... 
extracellular protein structure | O-FUCOSYLATION | calcium | cartilage oligomeric matrix protein | CRYSTAL-STRUCTURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | BINDING DOMAIN | OLIGOMERIC MATRIX PROTEIN | PSEUDOACHONDROPLASIA | CELL BIOLOGY | thrombospondin | C-TERMINAL REGION | CA2+ BINDING | COILED-COIL | TYPE-1 REPEATS
Journal Article
Genes & Diseases, ISSN 2352-3042, 03/2019, Volume 6, Issue 1, pp. 47 - 55
Pseudoachondroplasia (PSACH) is a relatively common skeletal dysplasia characterized by disproportionate short stature, joint laxity, early-onset... 
COMP | Therapy | Skeletal dysplasia | Pseudoachondroplasia | Novel mutation
Journal Article
Journal of Pediatric Orthopaedics, ISSN 0271-6798, 06/2016, Volume 38, Issue 3, pp. 157 - 162
BACKGROUND:Pseudoachondroplasia is a diverse group of skeletal dysplasias with a common pathway of altered cartilage oligomeric matrix protein (COMP)... 
deformity | pseudoachondroplasia | gait analysis | PEDIATRICS | OLIGOMERIC MATRIX PROTEIN | MUTATIONS | ORTHOPEDICS | CARTILAGE | Complications and side effects | Medical examination | Extremities, Lower | Abnormalities | Pseudoachondroplasia | Physiological aspects | Pediatric orthopedics | Diagnosis | Leg
Journal Article
JOURNAL OF CHILDRENS ORTHOPAEDICS, ISSN 1863-2521, 08/2019, Volume 13, Issue 4, pp. 409 - 416
Purpose In 1959, Maroteaux and Lamy initially designated pseudoachondroplasia as a distinct dysplasia different from achondroplasia the most common form of... 
MULTIPLE EPIPHYSEAL DYSPLASIA | genetics | dwarfism | Pseudoachondroplasia | PEDIATRICS | OLIGOMERIC MATRIX PROTEIN | COMP GENE | MUTATIONS | IDENTIFICATION | ORTHOPEDICS | skeletal dysplasia | Original Clinical
Journal Article
International Journal of Molecular Medicine, ISSN 1107-3756, 12/2010, Volume 26, Issue 6, pp. 885 - 891
Journal Article
AMERICAN JOURNAL OF PATHOLOGY, ISSN 0002-9440, 02/2012, Volume 180, Issue 2, pp. 738 - 748
Mutations in the cartilage oligomeric matrix protein gene (COMP) cause pseudoachondroplasia (PSACH). This dysplasia results from the intracellular retention of... 
MULTIPLE EPIPHYSEAL DYSPLASIA | PSEUDOACHONDROPLASIA CHONDROCYTES | OXIDATIVE STRESS | REDOX REGULATION | PROGRAMMED NECROSIS | CALCIUM-BINDING | OLIGOMERIC MATRIX PROTEIN | ENDOPLASMIC-RETICULUM STRESS | PATHOLOGY | FLUOROMETRIC ANALYSIS | CELL-DEATH
Journal Article
Chinese Journal of Contemporary Pediatrics, ISSN 1008-8830, 11/2013, Volume 15, Issue 11, pp. 937 - 941
Journal Article
Quality of Life Research, ISSN 0962-9343, 2019, Volume 28, Issue 6, pp. 1457 - 1464
Purpose We sought to examine the prevalence of depression and anxiety in adults with skeletal dysplasias, and to assess any correlations with pain. Methods... 
Depression | Anxiety | Pain | Skeletal dysplasia | Mental health | DISORDERS | PSEUDOACHONDROPLASIA | ACHONDROPLASIA | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | LOW-BACK | HEALTH CARE SCIENCES & SERVICES | HEALTH POLICY & SERVICES | COHORT | QUALITY-OF-LIFE | ASSOCIATION | WORLD | Care and treatment | Dysplasia | Children's hospitals | Medical genetics | Adults
Journal Article
Paediatrics and Child Health, ISSN 1751-7222, 02/2018, Volume 28, Issue 2, pp. 84 - 92
Skeletal dysplasias are a large group of rare diseases, with over 400 distinct entities recognised. Diagnosis is challenging, largely reflecting the rareness... 
pseudoachondroplasia | next generation sequencing | radiology | achondroplasia | hypophosphatasia | osteochondrodysplasia | skeletal dysplasia | spondyloepiphyseal dysplasia congenita
Journal Article