A Guide for Parents, Friends, and Professionals (©2000)
X. Medical and Scientific References
Following is a list of several significant papers published in recent
years:
Attree O, Olivos IM, Okabe I, Bafley LC, Nelson DL, Lewis RA, McInnes
RR, Nussbaum RL (1992): The Lowe's oculocerebrorenal syndrome gene encodes
a protein highly homologous to inositol polyphosphate-5-phophatase.
Nature 358:239-242.
Chamas LR, Bemardini I, Rader D, Hoeg J, Gahl WA (1991): Clinical and
laboratory findings in the oculocerebrorenal syndrome of Lowe, with
special reference to growth and renal function. New England Journal
of Medicine 324:1318-1325.
Chamas LR, Gahl WA (1991): The oculocerebrorenal syndrome of Lowe. Advances
in Pediatrics 38:75-107.
Charnas LR, Nussbaum RL (1994): Lowe syndrome (The Oculocerebrorenal
syndrome of Lowe). Chapter 123 in the Metabolic and Molecular Basis
of Inherited Disease. (Scriver CR, Beaudet AL, Sly WS, Valle DS, eds.)
McGraw-Hill, New York 1994.
Dressman MA, Olivos-Glander IM, Nussbaum RL, Suchy SF (2000): Ocrl1,
a PtdIns(4,5)P2 5-phosphatase, is localized to the trans-golgi
network of fibroblasts and epithelial cells. Journal of Histochemistry
& Cytochemistry 48:179-189.
Erb BC, Velázquez H, Gisser M, Shugrue CA, Reilly RF (1997): cDNA cloning
and localization of OCRL-1 in rabbit kidney. American Journal of Physiology
273 (Renal Physiology 42):F790-F795.
Fivush BA, Racusen LC, Christenson MJ, Olson JL (1992): Acute tubular
necrosis associated with Lowe's syndrome: possible role of rhabdomyolysis.
American Journal of Kidney Diseases 20:396-399.
Gaary EA, Rawnsley E, Marin-Padilla JM, Morse CL, Crow HC (1993): In
Utero detection of fetal cataracts. American Institute of Ultrasound
in Medicine 4:234-236.
Harrison M, Odell EW, Sheehy EC (1999): Dental findings in Lowe syndrome.
Pediatric Dentistry 21:425-428.
Hayashi Y, Hanioka K, Kanomata N, Imai Y, Itoh H (1995): Clinicopathologic
and molecular-pathologic approaches to Lowe's syndrome. Pediatric Pathology
and Laboratory Medicine 15:389-402.
Kenworthy L, Park T, Charnas LR (1993): Cognitive and behavioral profile
of the oculocerebrorenal syndrome of Lowe. American Journal of Medical
Genetics 46:297-303.
Kenworthy L., Charnas L (1995): Evidence for a discrete behavioral phenotype
in the oculocerebrolrenal syndrome of Lowe. American Journal of Medical
Genetics 59:283-290.
Leahey A-M, Charnas LR, Nussbaum RL (1993): Nonsense mutations in the
OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe.
Human Molecular Genetics 2:461-463.
Lewis R (1993): Family planning: what do we do now? On the Bearm, newsletter
of the Lowe Syndrome Association 12/3:7-9.
Lin T, Lewis RA, Nussbaum RL (1999): Molecular confirmation of carriers
for Lowe syndrome. Ophthalmology 106:119-122.
Lin T, Orrison BM, Suchy SF, Lewis RA, Nussbaum RL (1998): Mutations
are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome
patients. Molecular Genetics and Metabolism 64:58-61.
Lin T, Orrison BM, Leahey A-M, Suchy SF, Bernard DJ, Lewis RA, Nussbaum
RL (1997): Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal
syndrome. American Journal of Human Genetics 60:1384-1388.
McSpadden K, Dolinsky Z, Schroerlucke K (1991): Report on the Lowe's
syndrome comprehensive survey. West Lafayette IN: Lowe Syndrome Association.
Nussbaum RL, Orrison BM, Jänne PA, Charnas L, Chinault AC (1997): Physical
mapping and genomic structure of the Lowe syndrome gene OCRL1. Human
Genetics 99:145-150.
Olivos-Glander IM, Janne PA, Nussbaum RL (1995): The Oculocerebrorenal
syndrome gene product is a 105-kD protein localized to the Golgi Complex.
American Journal of Human Genetics 57:817-823.
Satre V, Monnier N, Berthoin F, Ayuso C, Joannard A, Jouk P, Lopez-Pajares
I, Megabarne A, Philippe HJ, Plauchu H, Torres ML, Lunardi J (1999):
Characterization of a germline mosaicism in families with Lowe syndrome,
and identification of seven novel mutations in the OCRL1-gene. American
Journal of Human Genetics 65:68-76.
Silver, DN, Lewis RA, Nussbaum RL (1987): Mapping the Lowe oculocerebrorenal
syndrome to Xq24-q26 by use of restriction fragment length polymorphism.
Journal of Clinical Investigation 79: 282-285.
Suchy SF, Lin T, Horwitz JA, O'Brien WE, Nussbaum RL (1998): First report
of prenatal biochemical diagnosis of Lowe syndrome. Prenatal Diagnosis
18: 1117-1121.
Suchy SF, Olivos-Glander IM, Nussbaum RL (1995): Lowe syndrome, a deficiency
of a phosphatidylinositol 4,5-biphosphate 5-phosphatase in the Golgi
apparatus. Human Molecular Genetics 4(12): 2245-2250.
Zhang X, Hartz PA, Philip E, Racusen LC, Majerus PW (1998): Cell lines
from kidney proximal tubules of a patient with Lowe syndrome lack OCRL
inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol
4,5-bisphosphate. Journal of Biological Chemistry 273:1574-1582.
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For other Lowe syndrome citations http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?309000#REFERENCES |
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