Collagens and collagen-related diseases

Annals of Medicine

Volumn 33, Issue 1, 2001, Pages 7-21

  Myllyharju, J ^a   Kivirikko, K I ^a  

^a UNIVERSITY OF OULU   (Finland)

Author keywords

Collagen; Fibrosis; Heritable diseases; Intervertebral disc

Indexed keywords

COLLAGEN DISEASE; COLLAGEN SYNTHESIS; FIBROSIS; HUMAN; PRIORITY JOURNAL; REVIEW; WOUND HEALING;

EID: 0035068434     PISSN: 07853890     EISSN: None     Source Type: Journal    
DOI: 10.3109/07853890109002055     Document Type: Review

References (144)

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53. 2 tetramer
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79. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
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84. Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia
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88. Marshall syndrome associated with a splicing defect at the COL11A1 locus
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90. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen
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93. Mutations in COL11A2 cause nonsyndromic hearing loss (DFNA13)
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101. A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito
102. A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of proalpha1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)
103. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II
104. Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I
105. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II)
106. COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS
107. Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen
108. Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen
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114. Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion
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116. Hereditary skin diseases of anchoring fibrils
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119. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure
120. Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome
121. A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene
122. Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI
123. Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: Prenatal exclusion of this disorder in one family
124. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI
125. Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly
126. Collagen COL4A3 knockout: A mouse model for autosomal Alport syndrome
127. Absence of the (1(IX) chain leads to a functional knock-out of the entire collagen IX protein in mice
128. Murine models of human genetic skeletal disorders
129. Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development
130. Collagen VI deficiency induces early onset myopathy in the mouse: An animal model for Bethlem myopathy
131. Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: A model for recessive dystrophic epidermolysis bullosa
132. Animal models of Alport syndrome: Advancing the prospects for effective human gene therapy
133. Osteoarthritis-like lesions in transgenic mice harboring a small deletion mutation in type II collagen gene
134. Lack of type XV collagen causes a skeletal myopathy and cardiovascular defects in mice
135. The expression of N-terminally altered type XIII collagen causes a new form of progressive muscular atrophy in mice
136. Embryonic lethality in mice expressing mutated type XIII collagen
137. Failure of ventral body wall closure in mouse embryos lacking a procollagen C-proteinase encoded by Bmp1, a mammalian gene related to Drosophila tolloid
138. Cuticle collagen genes. Expression in Caenorhahditis elegans
139. Prolyl 4-hydroxylase is an essential procollagen-modifying enzyme required for exoskeleton formation and the maintenance of body shape in the nematode Caenorhahditis elegans
140. Prolyl 4-hydroxylase is required for viability and morphogenesis in Caenorhabditis elegans
141. dpy-18 encodes an alpha-subunit of prolyl 4-hydroxylase in Caenorhabditis elegans
142. Baculovirus expression of two protein disulphide isomerase isoforms from Caenorhabditis elegans and characterization of prolyl 4-hydroxylases containing one of these polypeptides as their beta-subunit