Results 11 to 20 of about 8,693 (164)

Analysis of common mutation for GALT gene in newborns with galacatosemia Nineveh governorate

مجلة مركز بحوث التقنيات الاحيائية, 2014
Iraq contains many diseases that have never been counted or examined, including diseases related to food, which has deteriorated in recent years, and has rapid and direct impact especially on the children category, one of these diseases is galactosemia.
Owayes M Alhassani, Akeel H. Alassie, Saad G. Saleh   +2 more
doaj   +3 more sources

Functional correction by antisense therapy of a splicing mutation in the GALT gene. [PDF]

Eur J Hum Genet, 2015
In recent years, antisense therapy has emerged as an increasingly important therapeutic approach to tackle several genetic disorders, including inborn errors of metabolism. Intronic mutations activating cryptic splice sites are particularly amenable to antisense therapy, as the canonical splice sites remain intact, thus retaining the potential for ...
Coelho AI, Lourenço S, Trabuco M, Silva MJ, Oliveira A, Gaspar A, Diogo L, Tavares de Almeida I, Vicente JB, Vicente JB, Rivera I.   +10 more
europepmc   +4 more sources

Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified. [PDF]

Medicina (Kaunas), 2020
Galactosemia is a rare autosomal recessive genetic disorder that causes impaired metabolism of the carbohydrate galactose. This leads to severe liver and kidney insufficiency, central nervous system damage and long-term complications in newborns. We present two clinical cases of classical galactosemia diagnosed at the Lithuanian University of Health ...
Rokaitė R, Traberg R, Dženkaitis M, Kučinskienė R, Labanauskas L.   +4 more
europepmc   +4 more sources

Phenotype-Genotype Discrepancy Due to a 5.5-kb Deletion in the GALT Gene. [PDF]

JIMD Rep, 2012
Classical galactosemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the galactose-1-phosphate uridyltransferase (GALT). More than 200 mutations have been described in the GALT gene. A 5.5-kb GALT deletion, first described in patients of Ashkenazi Jewish ancestry, may lead either to an erroneous genotype assignment of ...
González-del Angel A, Velázquez-Aragón J, Alcántara-Ortigoza MA, Vela-Amieva M, Hernández-Martínez N.   +4 more
europepmc   +4 more sources

Determination of The GALT Gene in Galactosemic Cataract Patients in Azerbaijan

Journal of Advanced Zoology, 2023
Galactosemia is one of the genetic diseases that can be treated thanks to early detection by genetic screening test. Galactosemia is a hereditary metabolic disease. This disease is heterogeneous and controlled by GALT, GALK, GALE and GALM genes. The presented article is dedicated to galactosemic disease among Azerbaijani patients as a result of GALT ...
null L. S. Huseynova, null A. H. Ansarova   +1 more
openaire   +1 more source

Galactose-1-phosphate uridyltransferase (GalT), an in vivo-induced antigen of Actinobacillus pleuropneumoniae serovar 5b strain L20, provided immunoprotection against serovar 1 strain MS71. [PDF]

PLoS ONE, 2018
GALT is an important antigen of Actinobacillus pleuropneumoniae (APP), which was shown to provide partial protection against APP infection in a previous study in our lab.
Fei Zhang, Qin Zhao, Keji Quan, Zhuang Zhu, Yusheng Yang, Xintian Wen, Yung-Fu Chang, Xiaobo Huang, Rui Wu, Yiping Wen, Qigui Yan, Yong Huang, Xiaoping Ma, Xinfeng Han, Sanjie Cao   +14 more
doaj   +1 more source

CRISPR-Cas9 multiplex genome editing of the hydroxyproline-O-galactosyltransferase gene family alters arabinogalactan-protein glycosylation and function in Arabidopsis

BMC Plant Biology, 2021
Background Arabinogalactan-proteins (AGPs) are a class of hydroxyproline-rich proteins (HRGPs) that are heavily glycosylated (> 90%) with type II arabinogalactans (AGs). AGPs are implicated in various plant growth and development processes including cell
Yuan Zhang, Michael A. Held, Dasmeet Kaur, Allan M. Showalter   +3 more
doaj   +1 more source

B cell immune profiles in dysbiotic vermiform appendixes of pancreatic cancer patients

Frontiers in Immunology, 2023
Pancreatic ductal adenocarcinoma (PDAC) remains one of the deadliest solid tumors and is resistant to immunotherapy. B cells play an essential role in PDAC progression and immune responses, both locally and systemically.
Eveline E. Vietsch, Eveline E. Vietsch, Diba Latifi, Maaike Verheij, Elise W.A. van der Oost, Roeland F. de Wilde, Roel Haen, Anne Loes van den Boom, Anne Loes van den Boom, Bas Groot Koerkamp, Pascal G. Doornebosch, Victorien M.T. van Verschuer, Ariadne H.A.G. Ooms, Ariadne H.A.G. Ooms, Farzana Mohammad, Marcella Willemsen, Joachim G.J.V. Aerts, Ricki T. Krog, Noel F.C.C. de Miranda, Thierry P.P. van den Bosch, Yvonne M. Mueller, Peter D. Katsikis, Casper H.J. van Eijck   +22 more
doaj   +1 more source

Comparative Evaluation on Sperm Parameter of Transgenic Pigs with General Pigs

Journal of Animal Reproduction and Biotechnology, 2017
Pig has been known to be one of the most feasible animals as a bioreactor to produce pharmaceuticals in milk and as a mediator in xenotransplantation research.
Sang Hyoun Park, Gunsup Lee, Joo Yung Lee, Kyung Woon Kim, Sung-June Byun, Sun A Ock, Seongsoo Hwang, Hyeon Yang, Jae-Seok Woo, Keon Bong Oh   +9 more
doaj   +1 more source

Functional characterization of hydroxyproline-O-galactosyltransferases for Arabidopsis arabinogalactan-protein synthesis

BMC Plant Biology, 2021
Background Arabinogalactan-proteins (AGPs) are structurally complex hydroxyproline-rich cell wall glycoproteins ubiquitous in the plant kingdom. AGPs biosynthesis involves a series of post-translational modifications including the addition of type II ...
Dasmeet Kaur, Michael A. Held, Mountain R. Smith, Allan M. Showalter   +3 more
doaj   +1 more source