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Items: 1 to 20 of 29

1.

Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.

LOWE CU, TERREY M, MacLACHLAN EA.

AMA Am J Dis Child. 1952 Feb;83(2):164-84. No abstract available.

PMID:
14884753
2.

Disruption of three phosphatidylinositol-polyphosphate 5-phosphatase genes from Saccharomyces cerevisiae results in pleiotropic abnormalities of vacuole morphology, cell shape, and osmohomeostasis.

Srinivasan S, Seaman M, Nemoto Y, Daniell L, Suchy SF, Emr S, De Camilli P, Nussbaum R.

Eur J Cell Biol. 1997 Dec;74(4):350-60. Erratum in: Eur J Cell Biol 1998 Mar;75(3):246.

PMID:
9438131
4.

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.

Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, Nussbaum RL.

Am J Hum Genet. 1997 Jun;60(6):1384-8.

5.

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.

Nussbaum RL, Orrison BM, Jänne PA, Charnas L, Chinault AC.

Hum Genet. 1997 Feb;99(2):145-50.

PMID:
9048911
6.

De novo DNA cytosine methyltransferase activities in mouse embryonic stem cells.

Lei H, Oh SP, Okano M, Jüttermann R, Goss KA, Jaenisch R, Li E.

Development. 1996 Oct;122(10):3195-205.

7.

Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus.

Suchy SF, Olivos-Glander IM, Nussabaum RL.

Hum Mol Genet. 1995 Dec;4(12):2245-50.

PMID:
8634694
8.

Fibroblast growth factor receptor 3 is a negative regulator of bone growth.

Deng C, Wynshaw-Boris A, Zhou F, Kuo A, Leder P.

Cell. 1996 Mar 22;84(6):911-21.

9.

Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe.

Kenworthy L, Charnas L.

Am J Med Genet. 1995 Nov 20;59(3):283-90.

PMID:
8599350
10.

Mapping of the 75-kDa inositol polyphosphate-5-phosphatase (Inpp5b) to distal mouse chromosome 4 and its exclusion as a candidate gene for dysgenetic lens.

Jänne PA, Rochelle JM, Martin-DeLeon PA, Stambolian D, Seldin MF, Nussbaum RL.

Genomics. 1995 Jul 20;28(2):280-5.

PMID:
8530037
11.

Tissue distribution and intracellular localisation of the 75-kDa inositol polyphosphate 5-phosphatase.

Speed CJ, Matzaris M, Bird PI, Mitchell CA.

Eur J Biochem. 1995 Nov 15;234(1):216-24.

12.

Animal models of human genetic diseases.

Smithies O.

Trends Genet. 1993 Apr;9(4):112-6. Review.

PMID:
8516844
13.

Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe.

Leahey AM, Charnas LR, Nussbaum RL.

Hum Mol Genet. 1993 Apr;2(4):461-3.

PMID:
8504307
14.

Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe.

Kenworthy L, Park T, Charnas LR.

Am J Med Genet. 1993 May 15;46(3):297-303.

PMID:
8488875
15.

Positive-negative selection gene targeting with the diphtheria toxin A-chain gene in mouse embryonic stem cells.

McCarrick JW 3rd, Parnes JR, Seong RH, Solter D, Knowles BB.

Transgenic Res. 1993 Jul;2(4):183-90.

PMID:
8364601
16.

The oculocerebrorenal syndrome of Lowe.

Lavin CW, McKeown CA.

Int Ophthalmol Clin. 1993 Spring;33(2):179-91. Review. No abstract available.

PMID:
8325732
17.

Identification and characterization of the phosphatidylinositol-(4, 5)-bisphosphate 5-phosphatase in human platelets.

Matzaris M, Jackson SP, Laxminarayan KM, Speed CJ, Mitchell CA.

J Biol Chem. 1994 Feb 4;269(5):3397-402.

18.

Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease.

Yamanaka S, Johnson MD, Grinberg A, Westphal H, Crawley JN, Taniike M, Suzuki K, Proia RL.

Proc Natl Acad Sci U S A. 1994 Oct 11;91(21):9975-9.

19.

The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase.

Zhang X, Jefferson AB, Auethavekiat V, Majerus PW.

Proc Natl Acad Sci U S A. 1995 May 23;92(11):4853-6.

20.

The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex.

Olivos-Glander IM, Jänne PA, Nussbaum RL.

Am J Hum Genet. 1995 Oct;57(4):817-23.

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