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Items: 18

1.

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.

2.

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.

3.
4.

Essential role of retinoblastoma protein in mammalian hair cell development and hearing.

Sage C, Huang M, Vollrath MA, Brown MC, Hinds PW, Corey DP, Vetter DE, Chen ZY.

Proc Natl Acad Sci U S A. 2006 May 9;103(19):7345-50. Epub 2006 Apr 28.

5.

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.

6.

Structural basis for the function of Bacillus subtilis phosphoribosyl-pyrophosphate synthetase.

Eriksen TA, Kadziola A, Bentsen AK, Harlow KW, Larsen S.

Nat Struct Biol. 2000 Apr;7(4):303-8.

PMID:
10742175
7.

Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.

Manolis EN, Eavey RD, Sangwatanaroj S, Halpin C, Rosenbaum S, Watkins H, Jarcho J, Seidman CE, Seidman JG.

Am J Otol. 1999 Sep;20(5):621-6.

PMID:
10503584
8.

Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness.

Skvorak AB, Weng Z, Yee AJ, Robertson NG, Morton CC.

Hum Mol Genet. 1999 Mar;8(3):439-52.

PMID:
9949203
9.

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.

PMID:
8968763
10.

Determination of phosphoribosylpyrophosphate synthetase activity in human cells by a non-isotopic, one step method.

Torres RJ, Mateos FA, Puig JG, Becker MA.

Clin Chim Acta. 1996 Feb 9;245(1):105-12. No abstract available.

PMID:
8646809
11.

Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.

Roessler BJ, Nosal JM, Smith PR, Heidler SA, Palella TD, Switzer RL, Becker MA.

J Biol Chem. 1993 Dec 15;268(35):26476-81.

12.

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.

de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP.

Science. 1995 Feb 3;267(5198):685-8.

PMID:
7839145
13.

The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.

Becker MA, Smith PR, Taylor W, Mustafi R, Switzer RL.

J Clin Invest. 1995 Nov;96(5):2133-41.

14.

An inborn error of purine metabolism, deafness and neurodevelopmental abnormality.

Simmonds HA, Webster DR, Lingam S, Wilson J.

Neuropediatrics. 1985 May;16(2):106-8.

PMID:
2989725
15.

Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness.

Becker MA, Puig JG, Mateos FA, Jimenez ML, Kim M, Simmonds HA.

Am J Med. 1988 Sep;85(3):383-90.

PMID:
2843048
16.

Sex linked deafness: Wilde revisited.

Reardon W.

J Med Genet. 1990 Jun;27(6):376-9.

17.

Cloning of two distinct copies of human phosphoribosylpyrophosphate synthetase cDNA.

Roessler BJ, Bell G, Heidler S, Seino S, Becker M, Palella TD.

Nucleic Acids Res. 1990 Jan 11;18(1):193. No abstract available.

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