Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
about
Proteoglycan form and function: A comprehensive nomenclature of proteoglycansCollagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemiaMutations in NYX of individuals with high myopia, but without night blindnessExtracellular matrix molecules: potential targets in pharmacotherapy.Natural genetic variation caused by small insertions and deletions in the human genomeTransgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndromeHomozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.DNA sequence and comparative analysis of chimpanzee chromosome 22.Lack of collagen XVIII long isoforms affects kidney podocytes, whereas the short form is needed in the proximal tubular basement membrane.Proteolytically Derived Endogenous Angioinhibitors Originating from the Extracellular MatrixTarget-derived matricryptins organize cerebellar synapse formation through α3β1 integrins.Mutations in collagen 18A1 and their relevance to the human phenotype.Endostatin and endorepellin: A common route of action for similar angiostatic cancer avengersCopy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.Heparan sulfate proteoglycans: a GAGgle of skeletal-hematopoietic regulators.Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutationsNovel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness.ProNGF Drives Localized and Cell Selective Parvalbumin Interneuron and Perineuronal Net Depletion in the Dentate Gyrus of Transgenic MiceEndostatin overexpression specifically in the lens and skin leads to cataract and ultrastructural alterations in basement membranes.The nature and biology of basement membranes.Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.Endostatin is a trans-synaptic signal for homeostatic synaptic plasticity.A phenotypic variant of Knobloch syndrome.Endostatin phenylalanines 31 and 34 define a receptor binding site.COL18A1 is highly expressed during human adipocyte differentiation and the SNP c.1136C > T in its "frizzled" motif is associated with obesity in diabetes type 2 patients.Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports.Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1.An extracellular proteasome releases endostatin from human collagen XVIII.How pathogenic is the p.D104N/endostatin polymorphic allele ofCOL18A1in Knobloch syndrome?
P2860
Q21710680-6816DC3C-85C2-44C7-BCE2-DC1328760ACEQ24622648-8B82EF23-5849-4193-AE8F-BC9311A79994Q24653288-9A8464D6-5F04-44AA-8B40-F1793251468AQ33694487-3636B3F2-45F6-473B-8238-502849D0FFB8Q34175328-A6BAE7F0-6048-4D8F-9130-07E708BA636FQ34343200-ECF0C623-E8E6-48F1-A8E4-F2BC476350F4Q34506328-F0575628-3E6A-44F1-AD07-3C83B4847F3AQ34548195-5E0A8091-A2CA-4ABE-B100-2547328A3947Q34624094-5FF1BE46-2361-43F7-9DE8-D492D5DD66F0Q35679807-A5DF22D0-7B58-4C0A-A293-E363BA998711Q36205265-46066775-DBA1-41F8-8BE7-4B012DC90308Q36419264-053342CA-C790-4013-BFBB-016C5FFD9B79Q36578668-164D04F6-C8BC-44F1-9D7B-6CDC14529EE9Q36626872-84074DC1-82A2-46B9-983E-B8343D5C4BB7Q37117272-AC2160F6-8785-4E92-B233-7FAD34C95DFCQ37324993-9A4E7DC0-E6D4-4E20-AE7C-C9B854602C00Q37359831-59520C43-CDF2-4E60-8DCA-80127B7B1C24Q37633907-D84C9C68-CE86-4C8C-9768-D6352C5A59E3Q38584966-6E48B383-5C67-44A9-8B79-C39FF5010C1BQ39063783-53EC24E4-773A-4385-9D74-62678ED61479Q39985087-B2956FDE-51F7-4BE4-B706-3F6FB8577ABCQ42791800-09EDF521-34B2-4B5C-A40D-DF161793FB66Q46592494-DA221CCE-800A-4268-990C-C8EB2C72D6EBQ46662933-7BFD176F-8F1B-4781-B1E8-B9CAF4DCC0D1Q46698087-769DBA5B-DC14-43E6-B64A-261E6E62816CQ47162091-A21731B4-80E5-4AEF-9302-7C2684E3F690Q49816039-E41715BF-C87F-4EAE-9DDB-5A4D25C6E18AQ51283766-20442497-A839-41C4-B111-D3A067FB01B8Q57161751-1EB710D9-5D2E-4DCD-B514-6FE59DEC0C36
P2860
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh
2002年學術文章
@zh-hant
name
Molecular analysis of collagen ...... rogeneity in Knobloch syndrome
@en
Molecular analysis of collagen ...... ogeneity in Knobloch syndrome.
@nl
type
label
Molecular analysis of collagen ...... rogeneity in Knobloch syndrome
@en
Molecular analysis of collagen ...... ogeneity in Knobloch syndrome.
@nl
prefLabel
Molecular analysis of collagen ...... rogeneity in Knobloch syndrome
@en
Molecular analysis of collagen ...... ogeneity in Knobloch syndrome.
@nl
P2093
P2860
P356
P1476
Molecular analysis of collagen ...... rogeneity in Knobloch syndrome
@en
P2093
Carpenter M
Czeizel AE
Der Kaloustian VM
Kliemann SE
Monteiro M
Passos-Bueno MR
Rosemberg S
P2860
P304
P356
10.1086/344695
P407
P577
2002-11-01T00:00:00Z