Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors
about
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?Canine X chromosome-linked hereditary nephritis: a genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the alpha 5 chain of collagen type IVThe 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 promotersActivating transcription factor 3 gene expression suggests that tissue stress plays a role in leiomyoma developmentThe genetic basis of female reproductive disorders: etiology and clinical testingStructural interaction of natural and synthetic inhibitors with the venom metalloproteinase, atrolysin C (form d)Differential binding of an SRF/NK-2/MEF2 transcription factor complex in normal versus neoplastic smooth muscle tissuesMammalian collagen IVComparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patientsIsolation and structure of the COL4A6 gene encoding the human alpha 6(IV) collagen chain and comparison with other type IV collagen genesEsophageal muscle physiology and morphogenesis require assembly of a collagen XIX-rich basement membrane zoneCollagen IV alpha 3, alpha 4, and alpha 5 chains in rodent basal laminae: sequence, distribution, association with laminins, and developmental switchesGenetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13Beginning of a molecular era in hearing and deafness.Gene expression profile of A549 cells from tissue of 4D model predicts poor prognosis in lung cancer patientsAlport syndrome: abnormalities of type IV collagen genes and proteins.Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosisNew functional roles for non-collagenous domains of basement membrane collagensThe alpha 3 chain of type IV collagen induces autoimmune Goodpasture syndrome.Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identificatiLoss of type IV collagen alpha 5 and alpha 6 chains in human invasive prostate carcinomas.Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus.Absence of the alpha6(IV) chain of collagen type IV in Alport syndrome is related to a failure at the protein assembly level and does not result in diffuse leiomyomatosis.Type IV collagen alpha 5 chain. Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody.Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndromeX-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.Targeted expression of stromelysin-1 in mammary gland provides evidence for a role of proteinases in branching morphogenesis and the requirement for an intact basement membrane for tissue-specific gene expressionDifferential expression of two basement membrane collagen genes, COL4A6 and COL4A5, demonstrated by immunofluorescence staining using peptide-specific monoclonal antibodiesIdentification of disease genes by whole genome CGH arrays.A novel locus for X-linked congenital cataract on Xq24.Familial hematuriaCOL4A6 is dispensable for autosomal recessive Alport syndrome.The Alternative Splicing Gallery (ASG): bridging the gap between genome and transcriptome.Mutations in the alpha 2(IV) basement membrane collagen gene of Caenorhabditis elegans produce phenotypes of differing severities.Glomerular diseases: genetic causes and future therapeutics.COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
P2860
Q24517953-753821DB-3EC9-4C13-BE54-984C892D65A3Q24563403-7483D926-F73C-4CDA-B372-B3D9D33FE68DQ24564848-C11F8FF3-8114-42AF-83FC-615976B24671Q24564865-1D64F469-4612-4B97-9612-1485C798BE1BQ26865875-B7CFDCE0-ED4B-4CAC-A3F3-6F756854EABAQ27730901-60D6B2DA-8647-4431-8CE0-EE6BAA98361AQ28206982-408CB421-81E7-4300-8DD7-49C869724C5CQ28265884-A7EFE8AE-8D5E-41EC-94D6-FEF40BC2748EQ28289611-0BA72F38-FE7C-419B-80FE-9E141C89FD58Q28291964-01E7D1AC-21A8-425F-BB50-B0E63798C996Q28585359-697C3156-0370-4358-96EE-ABA8B0E169E1Q28592655-657B7F5F-363F-4EDF-9D8F-5EBD227B30B8Q33330773-44AA8A4B-7468-4BDF-A7D7-1DCFFE5827C0Q33639128-60BFD81C-2343-44FC-8765-35C99C4EA3BBQ33805831-E5274E82-EEDC-4B12-81A6-9077D37006EBQ34097234-17C56DDD-9F7A-4E46-9035-5CA07B19393EQ34133166-E7D1067E-7F85-42A0-A423-B5F4D8581632Q34211184-92D72106-D2ED-4A73-A8B5-A58BBD77EB65Q34384421-6FDBCBC9-731F-44FF-9B27-C87466B92298Q34388506-0B7876EC-1605-45C7-958B-99FB7612AC2EQ34958987-34D9769E-1A2D-4A8F-AEB2-A5282CB008C5Q35560254-37023E9C-3230-4A57-A9DA-95A768628ECBQ35641621-F01E9D87-BBDA-44BC-8B05-687362EEC763Q35763961-292094CF-6FED-4E03-AE0B-C6C6C040A77BQ35765036-A5D2571E-1F63-4185-B218-B673CC6ADCB2Q35787141-11288E46-9E55-4F89-BCE1-0B61D2BE85B9Q35833905-0705B3C1-1D33-417C-91AB-F7415739DE6EQ35881960-5F80ECD0-CBCB-4851-96D1-DB82E1B38167Q35882216-27E9AF8F-CC84-48FD-9664-9ECFA975B9E4Q35882758-0A3CFCBD-E453-4BCF-9E92-9F11CB127244Q36233928-693687DF-5647-4A2B-9067-A71589814C7FQ36235976-C5771909-5E8F-4AF5-961A-7C2B1860CCE9Q36294690-CEEB27C4-103A-4B51-BE70-B4B6C84F54BCQ36572677-C2328DB5-9CC7-401F-850E-AB6E27B0C52EQ36958957-6FF00971-9B12-4683-ACFB-7C53A3533A81Q37063978-DD130692-A47B-4FF2-B5DB-771CE35EBA7EQ37346467-AAD291D1-25CF-4285-BBF3-2EBA02E5BACDQ37634533-1CCE0094-88E9-48DF-B162-61EF12B789B3Q37774243-02DFB482-CDE5-4F8F-8FD7-1D3C9F8026E0Q38036904-6FC52738-9710-4879-9ECB-2B4EEEDB1507
P2860
Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors
description
1993 nî lūn-bûn
@nan
1993 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Deletion of the paired alpha 5 ...... inherited smooth muscle tumors
@ast
Deletion of the paired alpha 5 ...... inherited smooth muscle tumors
@en
Deletion of the paired alpha 5 ...... inherited smooth muscle tumors
@nl
type
label
Deletion of the paired alpha 5 ...... inherited smooth muscle tumors
@ast
Deletion of the paired alpha 5 ...... inherited smooth muscle tumors
@en
Deletion of the paired alpha 5 ...... inherited smooth muscle tumors
@nl
prefLabel
Deletion of the paired alpha 5 ...... inherited smooth muscle tumors
@ast
Deletion of the paired alpha 5 ...... inherited smooth muscle tumors
@en
Deletion of the paired alpha 5 ...... inherited smooth muscle tumors
@nl
P2093
P3181
P356
P1433
P1476
Deletion of the paired alpha 5 ...... inherited smooth muscle tumors
@en
P2093
A de Paepe
C Antignac
K Tryggvason
S T Reeders
T Mochizuki
P304
P3181
P356
10.1126/SCIENCE.8356449
P407
P577
1993-08-27T00:00:00Z