| scholarly article | Q13442814 |
| P2093 | author name string | A J Richards | |
| F M Pope | |||
| J R Yates | |||
| N P Burrows | |||
| A C Nicholls | |||
| J B Harrison | |||
| C Luccarini | |||
| P2860 | cites work | Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2 | Q24567772 |
| Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II | Q24680315 | ||
| Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly | Q28589575 | ||
| Mammalian pre-mRNA branch site selection by U2 snRNP involves base pairing. | Q29012974 | ||
| The pro-alpha 1(V) collagen chain. Complete primary structure, distribution of expression, and comparison with the pro-alpha 1(XI) collagen chain | Q33269163 | ||
| Articular mobility in an African population | Q33568661 | ||
| An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome | Q33678012 | ||
| Ehlers-Danlos syndrome has varied molecular mechanisms | Q33678835 | ||
| UACUAAC is the preferred branch site for mammalian mRNA splicing | Q33850531 | ||
| Branch nucleophile selection in pre-mRNA splicing: evidence for the bulged duplex model | Q34323431 | ||
| Another look at collagen V and XI molecules. | Q34368974 | ||
| Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes. | Q34372729 | ||
| Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome | Q34396817 | ||
| Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies | Q35570490 | ||
| Type V collagen: molecular structure and fibrillar organization of the chicken alpha 1(V) NH2-terminal domain, a putative regulator of corneal fibrillogenesis | Q36232905 | ||
| Reduction of type V collagen using a dominant-negative strategy alters the regulation of fibrillogenesis and results in the loss of corneal-specific fibril morphology | Q36237721 | ||
| An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease). | Q37357561 | ||
| Characterization of a novel collagen chain in human placenta and its relation to AB collagen | Q40250790 | ||
| Defects in RNA splicing and the consequence of shortened translational reading frames | Q42590534 | ||
| A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. | Q48062833 | ||
| International nosology of heritable disorders of connective tissue, Berlin, 1986 | Q57752688 | ||
| Collagen fibrillogenesis in vitro: interaction of types I and V collagen regulates fibril diameter | Q68883947 | ||
| The role of the mammalian branchpoint sequence in pre-mRNA splicing | Q70232865 | ||
| Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II) | Q70838233 | ||
| The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II | Q71383652 | ||
| A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I) | Q71787214 | ||
| COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II | Q72258875 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Ehlers-Danlos syndrome | Q1141499 |
| Collagen type V alpha 1 chain | Q5145890 | ||
| skin development | Q14599571 | ||
| P304 | page(s) | 390-398 | |
| P577 | publication date | 1998-08-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families | |
| P478 | volume | 63 |
| Q90384779 | Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients |
| Q36849348 | Altered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers-Danlos syndrome |
| Q34723469 | An SF1 affinity model to identify branch point sequences in human introns |
| Q41902269 | An alternatively spliced surfactant protein B mRNA in normal human lung: disease implication |
| Q38716866 | BPP: a sequence-based algorithm for branch point prediction. |
| Q48184143 | Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies |
| Q24291045 | COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II |
| Q24540243 | COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS |
| Q73884535 | Characterization of the effects of mutations in the putative branchpoint sequence of intron 4 on the splicing within the human lecithin:cholesterol acyltransferase gene |
| Q28731522 | Cholesteryl Ester Transfer Protein (CETP) polymorphisms affect mRNA splicing, HDL levels, and sex-dependent cardiovascular risk |
| Q24539139 | Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen |
| Q37789608 | Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type |
| Q44521306 | Collagen XXIV, a vertebrate fibrillar collagen with structural features of invertebrate collagens: selective expression in developing cornea and bone |
| Q33883998 | Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? |
| Q49160999 | Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria |
| Q30982897 | Generalized connective tissue disease in Crtap-/- mouse |
| Q77738099 | Genetic analysis of patients with leukocyte adhesion deficiency: genomic sequencing reveals otherwise undetectable mutations |
| Q34221858 | Heritable collagen disorders: from genotype to phenotype |
| Q78051836 | Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome |
| Q34973311 | Human Splicing Finder: an online bioinformatics tool to predict splicing signals |
| Q24646378 | Human branch point consensus sequence is yUnAy |
| Q39683119 | Human genetic variation recognizes functional elements in noncoding sequence |
| Q52858162 | Intronic sequence variants of the CDKN2A gene in melanoma pedigrees. |
| Q37307994 | Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS). |
| Q24656619 | New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicals |
| Q36212704 | Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases |
| Q48118156 | Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome |
| Q34390680 | 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). |
| Q46866789 | PMM2 intronic branch-site mutations in CDG-Ia |
| Q40256499 | Phenotypic consequences of branch point substitutions |
| Q26823957 | RNA-Binding Proteins: Splicing Factors and Disease |
| Q24674554 | Splicing in action: assessing disease causing sequence changes |
| Q28590272 | Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition |
| Q73580453 | The 4830C>A polymorphism within intron 5 affects the pattern of alternative splicing occurring within exon 6 of the thrombopoietin gene |
| Q34013525 | The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization |
| Q26829538 | The missing puzzle piece: splicing mutations |
| Q49126623 | The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients |
| Q33610983 | The molecular genetics of the Ehlers-Danlos syndrome |
| Q30716775 | Tissue specificity of a new splice form of the human lysyl hydroxylase 2 gene |
| Q36940048 | Unusual molecular findings in Kindler syndrome |
| Q42250783 | Using transmission electron microscopy and 3View to determine collagen fibril size and three-dimensional organization. |
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