Results 121 to 130 of about 8,693 (164)

Galactose tolerance in adults with classical galactosaemia. Considering the gaps. [PDF]

Mol Genet Metab Rep
Shakerdi LA, Thacker CN, Moore K, Sheerin A, Noga M, Rubio-Gozalbo ME, Berry GT, O'Byrne JJ, Saldova R, Treacy EP.   +9 more
europepmc   +1 more source

Cytosolic UDP-Gal biosynthetic machinery is required for dimerization of SLC35A2 in the Golgi membrane and its interaction with B4GalT1. [PDF]

Front Mol Biosci
Wiertelak W, Pavlovskyi A, Olczak M, Maszczak-Seneczko D.   +3 more
europepmc   +1 more source

Diagnostic efficiency of whole exome sequencing in the search for genetic causes of hereditary diseases in Yugra (West Siberia, Russia). [PDF]

Vavilovskii Zhurnal Genet Selektsii
Donnikov MY, Suchko PA, Morozkina AV, Kolbasin LN, Popova EA, Papanov SI, Koshevaya YS, Danilov LG, Eismont YA, Glotov OS, Kovalenko LV.   +10 more
europepmc   +1 more source

The UCSC Genome Browser database: 2026 update. [PDF]

Nucleic Acids Res
Casper J, Speir ML, Raney BJ, Perez G, Nassar LR, Lee CM, Hinrichs AS, Gonzalez JN, Fischer C, Diekhans M, Clawson H, Benet-Pages A, Barber GP, Vaske CJ, van Baren MJ, Wang K, Rodriguez YJP, Jenkins-Kiefer JA, Chalamala M, Haussler D, Kent WJ, Haeussler M.   +21 more
europepmc   +1 more source

Transcriptomic reveals key genes and regulatory pathways in galactomannan biosynthesis in <i>Gleditsia sinensis</i> polysaccharide gum. [PDF]

Front Plant Sci
Zhang Y, Yang T, Wang X, Xu F, Du L, Wu H.   +5 more
europepmc   +1 more source

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Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene

Human Mutation, 2007
Classical galactosemia is an autosomal recessive disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. Our group developed a disease-specific database containing all of the reported sequence variants in GALT (Available at: http://arup.utah.edu/database/galactosemia/GALT_welcome.php; Last accessed: 13 April 2007 ...
Rong Mao, David K Crockett
exaly   +3 more sources

The N314D polymorphism of the GALT gene is not associated with congenital absence of the uterus and vagina [PDF]

Molecular Human Reproduction, 2003
The aetiology of anomalous embryonic and fetal development of the female reproductive tract, ranging from common uterine abnormalities to the somewhat rare congenital absence of the uterus and vagina (CAUV), is unknown. Some have proposed that abnormal galactose metabolism might cause CAUV.
S Klipstein, R H Reindollar, M R Gray
exaly   +3 more sources

Endometriosis is not associated with or linked to the GALT gene

Fertility and Sterility, 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.Association and linkage study.Population material collected for case and family studies in endometriosis.Women ...
Andrei Manolescu, Reynir Geirsson, Hreinn Stefansson   +2 more
exaly   +3 more sources

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene

Human Mutation, 1999
Classical galactosemia is caused by a deficiency in activity of the enzyme galactose-1-phosphate uridyl transferase (GALT), which, in turn, is caused by mutations at the GALT gene. The disorder exhibits considerable allelic heterogeneity and, at the end of 1998, more than 150 different base changes were recorded in 24 different populations and ethnic ...
Juergen Reichardt, Cezary Żekanowski, Giuseppe Novelli   +2 more
exaly   +3 more sources