Results 131 to 140 of about 8,693 (164)

Gene expression analysis of isolated salmonid GALT leucocytes in response to PAMPs and recombinant cytokines [PDF]

Fish and Shellfish Immunology, 2018
Increased knowledge of the immune response of the intestine, a physiologically critical organ involved in absorption, secretion and homeostasis in a non-sterile environment, is needed to better understand the mechanisms involved in the induction of long-lasting immunity and, subsequently, the development of efficacious gastrointestinal immunization ...
Christopher Secombes, Tiehui Wang, Ahmed Attaya   +2 more
exaly   +5 more sources

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Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination

Human Genetics, 1981
A new born male and a three-year-old female with various dysmorphic features were both found to have to have a supernumerary chromosome. Clinical and cytogenetic findings confirmed the existence of a pure de novo 9p tetrasomy in the first case and a pure de novo 9p trisomy in the second case.
P, Eydoux, C, Junien, S, Despoisse, J, Chassevent, C, Bibring, C, Gregori   +5 more
openaire   +2 more sources

Detection of common mutations in the GALT gene through ARMS

Gene, 2012
Type I galactosemia is an inborn error resulting from mutations on both alleles of the GALT gene, which leads to the absence or deficiency of galactose-1-phosphate uridyltranseferase (GALT), the second of three enzymes catalyzing the conversion of galactose into glucose.
Umair, Mahmood, Muhammad, Imran, Salma Iqbal, Naik, Huma Arshad, Cheema, Anjum, Saeed, Muhammad, Arshad, Saqib, Mahmood   +6 more
openaire   +2 more sources

The GALT rush: High carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population

Molecular Genetics and Metabolism, 2011
Classic galactosemia is an autosomal recessive disorder of galactose metabolism manifesting in the first weeks of life following exposure to a milk-based diet. Despite the benefit of avoidance of lactose, many patients suffer from long-term complications including neurological deficits and ovarian failure.
Nurit, Goldstein, Yoram, Cohen, Ben, Pode-Shakked, Ekaterina, Sigalov, Bela, Vilensky, Leah, Peleg, Yair, Anikster   +6 more
openaire   +2 more sources

Mutational analysis of the GALT gene in Filipino patients.

The Kobe journal of medical sciences, 2013
Classic galactosemia is an inherited metabolic disorder due to mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. This study describes the results of the GALT gene analysis of four unrelated Filipino patients with Classic Galactosemia. DNA extracted from dried blood spots and peripheral blood of the patients, age one month to two and
Estrada, Sylvia C., Canson, Daffodil M., Silao, Catherine Lynn T.   +2 more
openaire   +3 more sources

A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family

Clinica Chimica Acta, 2017
Classic Galactosemia (OMIM 230400) is an autosomal recessive disorder of galactose metabolism caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. This disease caused by the inability to metabolize galactose is potentially life-threatening but its pathophysiology has not been clearly defined.
M. De Lucca, C. Barba, L. Casique
openaire   +2 more sources

Galactosemia: deletion in the 5′ upstream region of the GALT gene reduces promoter efficiency

Human Genetics, 2001
Galactosemia is a metabolic disorder caused by a defect in the galactose-1-phosphate uridyltransferase (GALT) enzyme. In previous studies, we have shown that the presence of a deletion in the 5' upstream (promoter) region of the GALT gene is associated with the Duarte (D2) allele. In the present study, by using a promoter fusion assay we provide direct
M, Trbusek, H, Francová, L, Kozák
openaire   +2 more sources

Presence of a deletion in the 5′ upstream region of the GALT gene in Duarte (D2) alleles

Journal of Medical Genetics, 1999
Editor—Galactosaemia is an autosomal recessively inherited metabolic disorder caused by a defect in the galactose-1-phosphate uridyltransferase (GALT) enzyme. Absence or severe reduction of GALT activity results in classical galactosaemia (G/G) while an approximately half reduction of enzyme activity leads to the Duarte variant of galactosaemia (D/D ...
L, Kozák, H, Francová, A, Pijácková, J, Macku, S, Stastná, K, Peskovová, O, Martincová, J, Krijt   +7 more
openaire   +2 more sources

Demonstration of gene dosage effects for AK3 and GALT in fibroblasts from a fetus with 9p trisomy

Human Genetics, 1983
After prenatal detection of a de novo unbalanced translocation 46,XX,18p+, fetal fibroblasts were obtained for further studies. 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 (
P, Steinbach, R, Benz
openaire   +2 more sources

Combination of enzyme analysis, allele‐specific PCR and sequencing to detect mutations in the GALT gene

Journal of Inherited Metabolic Disease, 2007
SummaryNewborn screening can identify patients with classical galactosaemia, and their diagnosis needs to be confirmed with assay of the activity of galactose‐1‐phosphate uridyltransferase (GALT). Unfortunately, in many cases the results can be ambiguous and further testing is required.
F R O, Calderon, L, Nelson, P, Dobrowolski, I, Sinitsyna, A, Phansalkar, N, Longo, M, Pasquali, R, Mao   +7 more
openaire   +2 more sources