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Results: 1 to 20 of 60

PubMed Links for Gene (Select 5631)

1.

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.

Synofzik M, Müller vom Hagen J, Haack TB, Wilhelm C, Lindig T, Beck-Wödl S, Nabuurs SB, van Kuilenburg AB, de Brouwer AP, Schöls L.

Orphanet J Rare Dis. 2014 Feb 14;9:24. doi: 10.1186/1750-1172-9-24.

2.

A small disturbance, but a serious disease: the possible mechanism of D52H-mutant of human PRS1 that causes gout.

Chen P, Li J, Ma J, Teng M, Li X.

IUBMB Life. 2013 Jun;65(6):518-25. doi: 10.1002/iub.1154. Epub 2013 Mar 18.

PMID:
23509005
3.

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.

Liu XZ, Xie D, Yuan HJ, de Brouwer AP, Christodoulou J, Yan D.

Int J Audiol. 2013 Jan;52(1):23-8. doi: 10.3109/14992027.2012.736032. Epub 2012 Nov 28. Review.

PMID:
23190330
4.

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.

Moran R, Kuilenburg AB, Duley J, Nabuurs SB, Retno-Fitri A, Christodoulou J, Roelofsen J, Yntema HG, Friedman NR, van Bokhoven H, de Brouwer AP.

Am J Med Genet A. 2012 Feb;158A(2):455-60. doi: 10.1002/ajmg.a.34428. Epub 2012 Jan 13.

PMID:
22246954
5.

DFNX1 Nonsyndromic Hearing Loss and Deafness.

Yuan H, Liu XZ.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2011 Aug 04.

6.

PRPS1 mutations: four distinct syndromes and potential treatment.

de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J.

Am J Hum Genet. 2010 Apr 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024. Review.

7.

Arts Syndrome.

de Brouwer APM, Duley JA, Christodoulou J.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2008 Oct 21 [updated 2011 Mar 29].

8.

Phosphoribosylpyrophosphate Synthetase Superactivity.

de Brouwer APM, Duley JA, Christodoulou J.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2008 Sep 23 [updated 2013 Aug 08].

9.

Charcot-Marie-Tooth Neuropathy X Type 5.

Kim JW, Kim HJ.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2008 Aug 26 [updated 2013 Jun 06].

10.

N114S mutation causes loss of ATP-induced aggregation of human phosphoribosylpyrophosphate synthetase 1.

Liu H, Peng X, Zhao F, Zhang G, Tao Y, Luo Z, Li Y, Teng M, Li X, Wei S.

Biochem Biophys Res Commun. 2009 Feb 20;379(4):1120-5. doi: 10.1016/j.bbrc.2009.01.034. Epub 2009 Jan 20.

PMID:
19161981
11.

Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).

Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW.

Am J Hum Genet. 2007 Sep;81(3):552-8. Epub 2007 Jun 29.

12.

Arts syndrome is caused by loss-of-function mutations in PRPS1.

de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H.

Am J Hum Genet. 2007 Sep;81(3):507-18. Epub 2007 Aug 3.

13.
14.

Expression, purification, crystallization and preliminary X-ray diffraction analysis of human phosphoribosyl pyrophosphate synthetase 1 (PRS1).

Tang W, Li X, Zhu Z, Tong S, Li X, Zhang X, Teng M, Niu L.

Acta Crystallogr Sect F Struct Biol Cryst Commun. 2006 May 1;62(Pt 5):432-4. Epub 2006 Apr 12.

15.

A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

Kim HJ, Hong SH, Ki CS, Kim BJ, Shim JS, Cho SH, Park JH, Kim JW.

Neurology. 2005 Jun 14;64(11):1964-7.

PMID:
15955956
16.

Identification of a novel p300-specific-associating protein, PRS1 (phosphoribosylpyrophosphate synthetase subunit 1).

Kaida A, Ariumi Y, Baba K, Matsubae M, Takao T, Shimotohno K.

Biochem J. 2005 Oct 15;391(Pt 2):239-47.

17.

Refinement of the locus for non-syndromic sensorineural deafness (DFN2).

Cui B, Zhang H, Lu Y, Zhong W, Pei G, Kong X, Hu L.

J Genet. 2004 Apr;83(1):35-8.

18.

Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.

García-Pavía P, Torres RJ, Rivero M, Ahmed M, García-Puig J, Becker MA.

Arthritis Rheum. 2003 Jul;48(7):2036-41.

19.
20.

Mapping of DFN2 to Xq22.

Tyson J, Bellman S, Newton V, Simpson P, Malcolm S, Pembrey ME, Bitner-Glindzicz M.

Hum Mol Genet. 1996 Dec;5(12):2055-60.

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