X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome (Q34265101)

1 August 2017

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome (English)

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1 August 2017

Francisco Martinez

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author name string

A Lauren Cason

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1 August 2017

Yoshihiko Ikeguchi

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1 August 2017

Cindy Skinner

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1 August 2017

Tim C Wood

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1 August 2017

Kenton R Holden

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1 August 2017

Herbert A Lubs

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1 August 2017

Richard J Simensen

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1 August 2017

Roger E Stevenson

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1 August 2017

Anthony E Pegg

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1 August 2017

Charles E Schwartz

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1 August 2017

1 December 2003

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European Journal of Human Genetics

1 August 2017

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1 August 2017

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1 August 2017

937-944

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201072

1 August 2017

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cites work

Regulation of cellular polyamines by antizyme

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Recent advances in the biochemistry of polyamines in eukaryotes

21 January 2018

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Interactions of polyamines with ion channels

21 January 2018

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Inward rectifier potassium channels

21 January 2018

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The ornithine decarboxylase gene is essential for cell survival during early murine development

21 January 2018

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Essential role of S-adenosylmethionine decarboxylase in mouse embryonic development

21 January 2018

1 reference

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Partial deletion of both the spermine synthase gene and the Pex gene in the X-linked hypophosphatemic, gyro (Gy) mouse.

21 January 2018

1 reference

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The Gy mutation: another cause of X-linked hypophosphatemia in mouse

21 January 2018

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Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets

21 January 2018

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An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets.

21 January 2018

1 reference

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X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12.

21 January 2018

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Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2-p22.2.

21 January 2018

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Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.

21 January 2018

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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

21 January 2018

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Effect of S-adenosyl-1,12-diamino-3-thio-9-azadodecane, a multisubstrate adduct inhibitor of spermine synthase, on polyamine metabolism in mammalian cells

21 January 2018

1 reference

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Detection of minority point mutations by modified PCR technique: a new approach for a sensitive diagnosis of tumor-progression markers

21 January 2018

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Detecting polymorphisms and mutations in candidate genes

21 January 2018

1 reference

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21 January 2018

XLMR genes: update 1990.

1 reference

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21 January 2018

XLMR genes: update 2000.

1 reference

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Clinical and molecular contributions to the understanding of X-linked mental retardation

21 January 2018

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Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family

21 January 2018

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Effect of N-(n-butyl)-1,3-diaminopropane on polyamine metabolism, cell growth and sensitivity to chloroethylating agents

21 January 2018

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S-adenosylmethionine decarboxylase: structure, function and regulation by polyamines

21 January 2018

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Role of polyamines in the control of cell proliferation and differentiation

21 January 2018

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Transgenic animals as models in the study of the neurobiological role of polyamines

21 January 2018

1 reference

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Polyamines in cell growth and cell death: molecular mechanisms and therapeutic applications

21 January 2018

1 reference

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Effect of spermine synthase deficiency on polyamine biosynthesis and content in mice and embryonic fibroblasts, and the sensitivity of fibroblasts to 1,3-bis-(2-chloroethyl)-N-nitrosourea

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201072

Differential distribution of spermidine/spermine-like immunoreactivity in neurons of the adult rat brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201072

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201072

Visually driven modulation of glutamatergic synaptic transmission is mediated by the regulation of intracellular polyamines

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201072

Specific and potent inhibition of spermidine synthase by the transition-state analog, S-adenosyl-3-thio-1,8-diaminooctane

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201072

inferred from DOI database lookup

7 January 2021

based on heuristic

XLMR genes: Update 1998

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201072

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201072

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Dimensions Publication ID

1 August 2017

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