X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
about
Analyzing effects of naturally occurring missense mutationsGenome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genesRefined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genesGolabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 geneInward rectifiers and their regulation by endogenous polyaminesCrystal Structure of Human Spermine Synthase: IMPLICATIONS OF SUBSTRATE BINDING AND CATALYTIC MECHANISMAminopropyltransferases: function, structure and geneticsHybrid sequencing approach applied to human fecal metagenomic clone libraries revealed clones with potential biotechnological applicationsMolecular evidence for the inverse comorbidity between central nervous system disorders and cancers detected by transcriptomic meta-analysesRational design of small-molecule stabilizers of spermine synthase dimer by virtual screening and free energy-based approachHistopathology reveals correlative and unique phenotypes in a high-throughput mouse phenotyping screenIn silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthaseSpermine synthase deficiency leads to deafness and a profound sensitivity to alpha-difluoromethylornithine.Identification of thyroid hormone receptor binding sites and target genes using ChIP-on-chip in developing mouse cerebellum.Spermine synthase.Association of polyaminergic loci with anxiety, mood disorders, and attempted suicideComputational analysis of missense mutations causing Snyder-Robinson syndromeEnhancing human spermine synthase activity by engineered mutationsRapid assembly and collective behavior of microtubule bundles in the presence of polyaminesProtein sector analysis for the clustering of disease-associated mutationsImpaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.Characterization of transgenic mice with overexpression of spermidine synthase.Polyamine metabolism is involved in adipogenesis of 3T3-L1 cells.The natural polyamines spermidine and spermine prevent bone loss through preferential disruption of osteoclastic activation in ovariectomized mice.Animal disease models generated by genetic engineering of polyamine metabolism.Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohortCurrent status of the polyamine research fieldSpermidine, but not spermine, is essential for pigment pattern formation in zebrafish.Spermidine/spermine-N(1)-acetyltransferase: a key metabolic regulator.Mouse models to investigate the function of spermineMammalian polyamine metabolism and functionPolyamine delivery as a tool to modulate stem cell differentiation in skeletal tissue engineering.The role of glia in stress: polyamines and brain disordersFunctions of Polyamines in MammalsN(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.The impact of spermine synthase (SMS) mutations on brain morphology.A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.Genetic and epigenetic influences on expression of spermine synthase and spermine oxidase in suicide completers.Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
P2860
Q21284966-3E365A11-EA5F-46E4-ADBB-D3DDD937C5F7Q24597048-1B0554D8-176F-43BD-BBE9-E5916FBC4EA2Q24645679-203E7089-29A6-4B26-AF9F-6819AE58F935Q24655073-99CBB01C-B3F2-4192-ACE3-8D4561E3E2BFQ26865121-46488FD1-6367-4EBE-B5D0-A91119302C0DQ27650160-73005D33-AFBF-434A-97C2-0E3CFFBC0F4BQ28293007-D305981F-FC49-441C-9974-4C79A32474E3Q28484452-58DFDB35-6208-4487-BB14-6D8AE0431191Q28539969-A0D42B4B-D8CE-4191-ADBC-E39D20E15E22Q28544065-F4A3C449-8DFC-407F-9001-48F25F23F66DQ28658100-17D32F51-9F0C-4593-8187-B248655D1498Q28744180-5FEC6BB7-4E12-4070-AFD2-451AE03EC9F1Q30484125-9D4AB96E-8902-442F-9D05-BCBAB6075854Q33412138-B6E528EB-FD96-40AE-B2F9-7BAD5BAD2D78Q33658853-6E4B531B-173D-423D-842A-42F8044434E2Q33770054-8E5FD6DE-C7BF-4855-A0C0-2F22A51BE738Q34101193-0FAB6917-AC0D-4A91-94C1-D81F1D561DEBQ34611078-AD366A33-2D12-4F4A-BF00-2F7637C0F8E1Q35079400-F8E210B0-7E4E-4AAD-90C2-93B4088B1EEEQ35537938-340ECB0D-5031-4F91-B884-31D70250DB27Q35596819-433E4417-50EC-4BF1-9951-6140B1B5D960Q35632971-8498D1E9-432E-4B3C-B35B-E57B98E0F409Q35697113-BAC9043C-4DA7-4E05-999C-2FD7D8E53C52Q36158977-C07673B2-A46F-45AD-A6BB-506A3B536A00Q36346501-95C54FD8-EB4F-4E19-8A78-57C82251EEB0Q36719004-E6BDDFC3-F81F-41CD-9D20-0A5B9B060669Q36838564-FD7B9217-63C0-4E14-92D2-455D07B3116FQ37036315-14F9BA2D-9620-406D-99FE-C05E83679EADQ37113086-EEB690C2-EA76-4D87-BC37-05EF893FB31DQ37280114-7EF22D8A-BE57-4570-824B-CA7521E48CADQ37365983-1FC747DB-9B83-4436-9F87-32BEC06466AAQ38163881-070E14B4-D8DA-48E7-BF84-93A838D52D68Q38278661-40491372-742D-4A09-9BDF-5A42E12DCDCAQ38857007-349D9390-22E7-4498-8383-86D1FD75ED52Q40736578-A1496153-1A16-48CD-8617-75D445559374Q42122757-EA53CE60-BA72-44DF-B1EF-4F24EA97C3BEQ42563242-09A0F201-D782-4324-A03B-18AF0557C869Q43199178-3BE84FF4-4126-41DC-AA55-EA8618ECDA1AQ43804873-1B00B01A-C787-4D2B-AF53-5104913E6799Q43851992-EB7BD808-1CE8-40A3-81D6-09F14EEC90D0
P2860
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
description
2003 nî lūn-bûn
@nan
2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
@ast
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
@en
X-linked spermine synthase gene
@nl
type
label
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
@ast
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
@en
X-linked spermine synthase gene
@nl
prefLabel
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
@ast
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
@en
X-linked spermine synthase gene
@nl
P2093
P2860
P356
P1476
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
@en
P2093
A Lauren Cason
Anthony E Pegg
Charles E Schwartz
Cindy Skinner
Herbert A Lubs
Kenton R Holden
Richard J Simensen
Roger E Stevenson
Tim C Wood
Yoshihiko Ikeguchi
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201072
P577
2003-12-01T00:00:00Z
P5875
P6179
1001841290