A report on the 3rd Workshop on Heritable Disorders of Connective Tissue

Matrix Biology

Volumn 21, Issue 1, 2002, Pages 7-13

  Sakai, Lynn Y ^a   Byers, Peter H ^b   Ramirez, Francesco ^c  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL MODEL; CONFERENCE PAPER; CONNECTIVE TISSUE DISEASE; EXTRACELLULAR MATRIX; GENE; GENETIC DISORDER; HEALTH CARE ORGANIZATION; HUMAN; MOUSE; MUTATION; NONHUMAN; PRIORITY JOURNAL; WORKSHOP;

COLLAGEN; CONNECTIVE TISSUE DISEASES; ECTODERMAL DYSPLASIA; ECTODYSPLASINS; EHLERS-DANLOS SYNDROME; HUMANS; MARFAN SYNDROME; MEMBRANE PROTEINS; MUTATION; NATIONAL INSTITUTES OF HEALTH (U.S.); OSTEOGENESIS IMPERFECTA; UNITED STATES;

EID: 0036151878     PISSN: 0945053X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0945-053X(01)00178-0     Document Type: Conference Paper

References (38)

1. Matrix survival signaling: from fibronectin via focal adhesion kinase to c-Jun NH(2)-terminal kinase
2. An allele of COL9A2 associated with intervertebral disc disease
3. Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene
4. Focal activation of a mutant allele defines the role of stem cells in mosaic skin disorders
5. Regulation of limb patterning by extracellular microfibrils
6. Mutations in ABCC6 cause pseudoxanthoma elasticum
7. Sox9 is required for cartilage formation
8. Research perspectives in heritable disorders of connective tissue
9. Folding defects in fibrillar collagens
10. An inducible mouse model for epidermolysis bullosa simplex: implications for gene therapy
11. Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia
12. Identification of a subpopulation of rapidly self-renewing and multipotential adult stem cells in colonies of human marrow stromal cells
13. Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa
14. Synergistic activities of alpha3 and alpha6 integrins are required during apical ectodermal ridge formation and organogenesis in the mouse
15. Gamma-sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophin
16. Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex
17. Two-dimensional peptide mapping of cross-linked type IX collagen in human cartilage
18. Mammalian Dlx homeobox gene control of craniofacial and inner ear morphogenesis
19. Activation of the lama2 gene in muscle regeneration: abortive regeneration in laminin alpha2-deficiency
20. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
21. Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia
22. The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia
23. A cartilage oligomeric matrix protein associated with pseudoachondroplasia changes the structural and functional properties of the type 3 domain
24. Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome
25. Collagens and collagen-related diseases
26. Deposition of laminin 5 regulates integrin adhesion and signaling
27. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
28. STAT1 mediates the increased apoptosis and reduced chondrocyte proliferation in mice overexpressing FGF2
29. Current knowledge and research directions in heritable disorders of connective tissue
30. Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A
31. Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation
32. Continuous expression of Cbfa1 in nonhypertrophic chondrocytes uncovers its ability to induce hypertrophic chondrocyte differentiation and partially rescues Cbfa1-deficient mice
33. Integrins (alpha7beta1) in muscle function and survival. Disrupted expression in merosin-deficient congenital muscular dystrophy
34. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans
35. Bmp4 and Fgf10 play opposing roles during lung bud morphogenesis
36. Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation
37. Type IIA procollagen containing the cysteine-rich amino propeptide is deposited in the extracellular matrix of prechondrogenic tissue and binds to TGF-beta1 and BMP-2