Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: A newly recognized syndrome?

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 10, 2012, Pages 2373-2381

  Chung, Brian ^a,b   Hinek, Aleksander ^b   Keating, Sarah ^a   Weksberg, Rosanna ^b   Shah, Vibhuti ^c   Blaser, Susan ^b   Hawkins, Cynthia ^b   Chitayat, David ^a,b  

^a MOUNT SINAI HOSPITAL   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

Author keywords

Metalloproteinase (MMP); Overgrowth; Tissue inhibitors of metalloproteinase (TIMP)

Indexed keywords

CHONDROITIN SULFATE; COLLAGEN TYPE 1; DOXYCYCLINE; ENOXAPARIN; NITRIC OXIDE; STROMELYSIN; TISSUE INHIBITOR OF METALLOPROTEINASE 1;

ACUTE KIDNEY FAILURE; ARNOLD CHIARI MALFORMATION; ARTICLE; ATELECTASIS; AUTOPSY; BRAIN DECOMPRESSION; CASE REPORT; CDKN1C GENE; CELL PROLIFERATION; CHROMOSOME 11P; CHROMOSOME ANALYSIS; CLEFT PALATE; CLINODACTYLY; COARSE FACE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CORTICAL DYSPLASIA; CRANIECTOMY; CYANOSIS; DISSEMINATED INTRAVASCULAR CLOTTING; DNA MICROARRAY; DRUG EFFECT; ECHOCARDIOGRAPHY; ENZYME ACTIVITY; FACE DYSMORPHIA; FETUS; FETUS ECHOGRAPHY; FIBROBLAST; FIBROBLAST CULTURE; GENE; GENE DOSAGE; GENE SEQUENCE; GPC3 GENE; GROWTH DISORDER; HRAS GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERTELORISM; INFANT; KARYOTYPE; LARYNGOMALACIA; MALE; MICROGYRIA; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE HYPOTONIA; NAIL HYPOPLASIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OVERGROWTH SYNDROME; PHLEBOGRAPHY; PLEURA EFFUSION; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RESPIRATORY ARREST; SAGITTAL SINUS THROMBOSIS; SEPTIC SHOCK; SKIN FIBROBLAST; THORAX RADIOGRAPHY; TRANSVERSE SINUS THROMBOSIS; WRINKLE;

ABNORMALITIES, MULTIPLE; ADULT; CELL PROLIFERATION; CELLS, CULTURED; COLLAGEN TYPE I; DOWN-REGULATION; FATAL OUTCOME; FEMALE; FIBROBLASTS; GROWTH DISORDERS; HUMANS; INFANT, NEWBORN; MALE; MATRIX METALLOPROTEINASE 3; PREGNANCY; SYNDROME; TISSUE INHIBITOR OF METALLOPROTEINASE-1; UP-REGULATION;

EID: 84866505194     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35570     Document Type: Article

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