|1.||Fridovich-Keil, Judith L: 6 articles (06/2015 - 05/2009)|
|2.||Berry, Gerard T: 4 articles (08/2012 - 01/2008)|
|3.||Lai, Kent: 3 articles (02/2015 - 03/2006)|
|4.||Gleason, Tyler J: 3 articles (11/2013 - 08/2012)|
|5.||Lukac-Bajalo, Jana: 3 articles (07/2008 - 11/2002)|
|6.||Fridovich-Keil, J L: 3 articles (06/2001 - 07/2000)|
|7.||Liu, Ying: 2 articles (06/2015 - 08/2012)|
|8.||Tang, Manshu: 2 articles (02/2015 - 06/2008)|
|9.||Vicente, João B: 2 articles (01/2015 - 01/2014)|
|10.||Coelho, Ana I: 2 articles (01/2015 - 01/2014)|
02/01/2012 - "This paper provides information on the measurement of Galactose-1-phosphate levels that can be very useful for the management of classical galactosemia."
02/10/2005 - "Homology modeling studies on human galactose-1-phosphate uridylyltransferase and on its galactosemia-related mutant Q188R provide an explanation of molecular effects of the mutation on homo- and heterodimers."
01/01/1996 - "This paper will review research done in our laboratory using a yeast expression system to study the human protein galactose-1-phosphate uridylyltransferase, associated with galactosemia, as well as highlighting some of the advantages of this model system."
06/15/2015 - "Classic galactosemia (CG) is a potentially lethal genetic disorder that results from profound loss of galactose-1-phosphate uridylyltransferase (GALT). "
09/01/2014 - "Here, we present a new version of GALT Protein Database, a Web-accessible data repository for the storage and interrogation of structural effects of variations of the enzyme galactose-1-phosphate uridylyltransferase (GALT), the impairment of which leads to classic Galactosemia, a rare genetic disease. "
|2.||Ovarian Neoplasms (Ovarian Cancer)
08/15/1994 - "This study examines galactose-1-phosphate uridyl transferase (GALT) activity in women with a family history of ovarian cancer (FOC) to determine if low GALT activity occurs in women who are at risk for but in whom ovarian cancer has not yet developed. "
09/01/2012 - "Duarte galactose-1-phosphate uridyl transferase genotypes are not associated with ovarian cancer risk."
07/01/2003 - "The N314D polymorphism of galactose-1-phosphate uridyl transferase does not modify the risk of ovarian cancer."
03/01/1995 - "It has been suggested that aspects of lactose consumption and metabolism favoring a relatively high tissue level of galactose-1-phosphate may predispose women to ovarian cancer. "
09/11/1998 - "Mutation of galactose-1-phosphate uridyl transferase and its association with ovarian cancer and endometriosis."
11/01/1984 - "Gene dose studies for galactose-1-phosphate uridyl transferase (GALT) were performed on the patient, his mother (the balanced translocation carrier), a 3-year-old 47,XY + 9p male control, a 30-year-old woman with mosaic trisomy 9p, a newborn female control infant with complete trisomy 9, and age-matched chromosomally normal control individuals. "
01/01/1983 - "Chromosome banding suggested that the fetus might have trisomy of the short arm of chromosome 9. This tentative diagnosis could be confirmed by demonstration of gene dosage effects for galactose-1-phosphate uridyl transferase (GALT, EC 184.108.40.206) and nucleoside triphosphate adenylate kinase (AK3, EC 220.127.116.11) both known to be controlled by genes assigned to 9p. "
03/01/1993 - "Erythrocyte galactose-1-phosphate (Gal-1-P) levels do not correspond to cataract formation unless many times higher than normal. "
07/01/2008 - "51 patients with idiopathic presenile cataracts and 172 healthy cataract-free subjects were genotyped to determine their galactose-1-phosphate uridyl transferase (GALT) and LPH status. "
01/01/1984 - "Two different metabolites are potentially toxic: galactitol is responsible for the cataracts while galactose-1-phosphate causes the rest of the pathology. "
01/01/1982 - "A case of cataract formation during the lactating period associated with galactose-1-phosphate uridyl transferase deficiency."
07/01/2008 - "High lactase activity genotypes and mutations in galactose-1-phosphate uridyl transferase have a synergistic effect on presenile cataract formation."
05/01/2006 - "The linkage between endometriosis and galactose-1-phosphate uridyl transferase gene (GALT) mutations is controversial. "
05/01/2006 - "No association of endometriosis with galactose-1-phosphate uridyl transferase mutations in a Chinese population."
11/01/2001 - "To investigate a possible association between the carrier frequency of the N314D mutation in the galactose-1-phosphate uridyl transferase (GALT) gene and endometriosis and linkage to the short arm of chromosome 9, where the GALT gene resides. "
10/01/1999 - "We conclude that the galactose-1-phosphate uridyl transferase N314D polymorphism is unlikely to be associated with endometriosis in the UK population."
10/01/1999 - "An association between the N314D polymorphism of galactose-1-phosphate uridyl transferase and endometriosis has recently been reported in a North American population. "
|1.||UDPglucose-Hexose-1-Phosphate Uridylyltransferase (Galactose 1 P Uridyltransferase)
|2.||trisomy Chromosome 9
|9.||Uridine Diphosphate Galactose (UDP Galactose)
|10.||UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)