Pages that link to "Q40853815"
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The following pages link to Collagens and their abnormalities in a wide spectrum of diseases (Q40853815):
Displaying 50 items.
- Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13) (Q22010864) (← links)
- Type XIII collagen is widely expressed in the adult and developing human eye and accentuated in the ciliary muscle, the optic nerve and the neural retina (Q22254316) (← links)
- Complete exon-intron organization of the human gene for the alpha1 chain of type XV collagen (COL15A1) and comparison with the homologous COL18A1 gene (Q24311690) (← links)
- Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen (Q24312098) (← links)
- Cloning of the human prolyl 4-hydroxylase alpha subunit isoform alpha(II) and characterization of the type II enzyme tetramer. The alpha(I) and alpha(II) subunits do not form a mixed alpha(I)alpha(II)beta2 tetramer (Q24315661) (← links)
- Cloning and characterization of a novel human lysyl hydroxylase isoform highly expressed in pancreas and muscle (Q24324169) (← links)
- The genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha 5(IV) and alpha 6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters (Q24564848) (← links)
- Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition (Q24675846) (← links)
- The Fe(II)/α-ketoglutarate-dependent taurine dioxygenases from Pseudomonas putida and Escherichia coli are tetramers (Q27676581) (← links)
- Extensive alternative splicing within the amino-propeptide coding domain of alpha2(XI) procollagen mRNAs. Expression of transcripts encoding truncated pro-alpha chains (Q28281998) (← links)
- A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage (Q28305930) (← links)
- Primary structure, tissue distribution, and chromosomal localization of a novel isoform of lysyl hydroxylase (lysyl hydroxylase 3) (Q28608951) (← links)
- Computed free energy differences between point mutations in a collagen-like peptide (Q31909202) (← links)
- Protein-specific chaperones: the role of hsp47 begins to gel. (Q34117427) (← links)
- Collagens and collagen-related diseases (Q34224267) (← links)
- Restrictive dermopathy: report of a case and review of the literature (Q34293742) (← links)
- Another look at collagen V and XI molecules. (Q34368974) (← links)
- Trihydroxyphenylalanine quinone (TPQ) from copper amine oxidases and lysyl tyrosylquinone (LTQ) from lysyl oxidase (Q34414525) (← links)
- Ubiquitous expression of the alpha1(XIX) collagen gene (Col19a1) during mouse embryogenesis becomes restricted to a few tissues in the adult organism (Q34430593) (← links)
- Epidermolysis bullosa acquisita: update and review (Q34436682) (← links)
- Structure of the Human Type XIX Collagen (COL19A1) Gene, Which Suggests It Has Arisen from an Ancestor Gene of the FACIT Family (Q34443812) (← links)
- The Order and Transcriptional Orientation of the Human COL13A1 and P4HA Genes on Chromosome 10 Long Arm Determined by High-Resolution FISH (Q34451115) (← links)
- cDNA sequence and expression of the mouse alpha1(V) collagen gene (Col5a1). (Q34467740) (← links)
- Bone fragility and collagen cross-links. (Q34586748) (← links)
- Alpha 1(XVIII), a collagen chain with frequent interruptions in the collagenous sequence, a distinct tissue distribution, and homology with type XV collagen (Q35222524) (← links)
- ECM roles in the function of metabolic tissues. (Q35653088) (← links)
- Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. (Q35881816) (← links)
- Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain (Q36382726) (← links)
- Comprehensive mass spectrometric mapping of the hydroxylated amino acid residues of the α1(V) collagen chain (Q36418901) (← links)
- Atherofibrosis - a unique and common process of the disease pathogenesis of atherosclerosis and fibrosis - lessons for biomarker development (Q36576517) (← links)
- Genetic and environmental factors affecting bone mineral density in large families (Q36613089) (← links)
- Genesis of hepatic fibrosis and its biochemical markers. (Q37210050) (← links)
- Wound-healing modulation in upper airway stenosis-Myths and facts (Q37286317) (← links)
- Regulation of vascular integrity. (Q37428915) (← links)
- Ehlers danlos syndrome - a case report (Q39034260) (← links)
- Rupture of the ascending aorta in Ehlers-Danlos syndrome after surgical repair of multiple arteriovenous malformations with the use of cardiopulmonary bypass (Q39476921) (← links)
- Abnormal adherence junctions in the heart and reduced angiogenesis in transgenic mice overexpressing mutant type XIII collagen. (Q39645757) (← links)
- Signaling required for blood vessel maintenance: molecular basis and pathological manifestations (Q39752032) (← links)
- Epidermolysis Bullosa: Pathogenetic Pathways from Mutations to Symptoms (Q40392062) (← links)
- Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene (Q40511466) (← links)
- Two new collagen subgroups: membrane-associated collagens and types XV and XVII. (Q40527465) (← links)
- Dohi memorial lecture. Clinical implications of basic research on heritable skin diseases (Q40872692) (← links)
- Collagen types in the middle ear mucosa. (Q40945474) (← links)
- Site-directed mutagenesis of human lysyl hydroxylase expressed in insect cells. Identification of histidine residues and an aspartic acid residue critical for catalytic activity (Q41205074) (← links)
- Biosynthesis of recombinant human pro-alpha 1(III) chains in a baculovirus expression system: production of disulphide-bonded and non-disulphide-bonded species containing full-length triple helices (Q41259159) (← links)
- Quantitative polymerase chain reaction of lysyl oxidase mRNA in malignantly transformed human cell lines demonstrates that their low lysyl oxidase activity is due to low quantities of its mRNA and low levels of transcription of the respective gene. (Q41295028) (← links)
- Osteogenesis imperfecta and other heritable disorders of bone (Q41530960) (← links)
- The Hand and the Eye (Q41531247) (← links)
- Expression and potential role of the extracellular matrix in hepatic ontogenesis: A review (Q41667673) (← links)
- Halofuginone: A Novel Antifibrotic Therapy (Q41729335) (← links)