Results 91 to 100 of about 11,911 (175)

Paradoxical regulation of human argininosuccinate synthetase cDNA minigene in opposition to endogenous gene: Evidence for intragenic control sequences [PDF]

, 1989
Human somatic cell variants resistant to the arginine analog, canavanine, express 200-fold increased levels of argininosuccinate synthetase (AS) mRNA as compared to parental cells.
Pogulis, Robert J., Boyce, Frederick M., Freytag, Svend O.   +2 more
core   +1 more source

Identification of a Novel CD8 T Cell Epitope Derived from Plasmodium berghei Protective Liver-Stage Antigen

Frontiers in Immunology, 2018
We recently identified novel Plasmodium berghei (Pb) liver stage (LS) genes that as DNA vaccines significantly reduce Pb LS parasite burden (LPB) in C57Bl/6 (B6) mice through a mechanism mediated, in part, by CD8 T cells.
Alexander Pichugin, Stasya Zarling, Leah Perazzo, Patrick Emmet Duffy, Hidde Lolke Ploegh, Urszula Krzych   +5 more
doaj   +1 more source

Huangkui capsule mitigates diabetic nephropathy via epigenetic therapy effects

Frontiers in Pharmacology
BackgroundHuangkui capsule (HKC), a Chinese herbal medicine derived from Abelmoschus manihot (L.) ethanol extract, has clinical efficacy against diabetic nephropathy (DN).
Yihong Yu, Yihong Yu, Haitao Tang, Nan Li, Haitao Ge, Jie Wu, Harvest F. Gu, Harvest F. Gu   +7 more
doaj   +1 more source

Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria

Biomedicines
Background: Homocystinuria caused by cystathionine β-synthase (CBS) deficiency is the most common congenital disorder related to sulfur amino acid metabolism, manifested by neurological, vascular, and connective tissue involvement.
Xin Liu, Xinhua Liu, Jinfeng Liu, Junhong Guo, Danyao Nie, Jiantao Wang   +5 more
doaj   +1 more source

Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders

Molecular Genetics & Genomic Medicine
Background SYNGAP1 encodes a Ras/Rap GTPase‐activating protein that is predominantly expressed in the brain with the functional roles in regulating synaptic plasticity, spine morphogenesis, and cognition function. Pathogenic variants in SYNGAP1 have been
Wuming Xie, Baoqiong Liao, Mei Shuai, Rutian Liu, Min Hong, Shuwen He   +5 more
doaj   +1 more source

Minigene splicing reporter assay: a high-stake tool for genetic diagnosis in familial hypobetalipoproteinemia

International audienceBackground & aims: Familial hypobetalipoproteinemia 1 (FHBL-SD2) is the most common monogenic form of primary hypocholesterolaemia, related to truncating variants in the APOB gene encoding apolipoprotein B. Due to its high level
Janin, Alexandre, Moulin, Philippe, Marmontel, Oriane, Marrec, Marie, Di Filippo, Mathilde, Cariou, Bertrand, Wargny, Matthieu, Charrière, Sybil, Henry, Zoé, Nony, Séverine   +9 more
core   +1 more source

Minigene analysis of the splicing mutations.

, 2015
(A) CYP27B1WT, CYP27B11215+2T>A and CYP27B11215T>C constructs were transfected into CHO cells for CYP27B1 minigene expression. RNA from transfected cells was reversed-transcribed to cDNA for RT-PCR analysis.
Walaa E. Kattan (764157), Minjing Zou (764158), Huda BinEssa (764160), Özlem Nalbantoğlu (764161), Roua A. Al-Rijjal (764162), Brian Meyer (764163), Erdem Durmaz (764159), Korcan Demir (764156), Yufei Shi (33632), Behzat Özkan (764164)   +9 more
core   +1 more source

Prevention of the dystrophic phenotype in dystrophin/utrophin-deficient muscle following adenovirus-mediated transfer of a utrophin minigene.

, 2000
Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disorder caused by the lack of a subsarcolemmal protein, dystrophin. We have previously shown that the dystrophin-related protein, utrophin is able to compensate for the lack of dystrophin
Karpati, G., Davies, K. E., Wood, MJ, Davies, KE, Gilbert, R, Wood, Matthew, Gilbert, R., Tinsley, JM, Tinsley, J. M., Davies, Kay, Wakefield, PM, Karpati, G, Wakefield, P. M., Wood, M. J. A.   +13 more
core   +1 more source

Complex Minigene Library Vaccination for Discovery of Pre-Erythrocytic Plasmodium T Cell Antigens - Fig 1

, 2016
ELISPOT IFNγ responses in mice immunized with minigene library vaccines alone (A-B), library vaccines followed by sporozoites (C-D) or sporozoites alone (E-F) identify novel responses.
Sean C. Murphy (565383), Arnold Kas (188137), Brad C. Stone (2607832), Jay Shendure (814), James T. Fuller (364248), Zachary P. Billman (565387), Deborah H. Fuller (361966)   +6 more
core   +1 more source

Extensive phenotypic characterization of a new transgenic mouse reveals pleiotropic perturbations in physiology due to mesenchymal hGH minigene expression

, 2017
The human growth hormone (hGH) minigene used for transgene stabilization in mice has been recently identified to be locally expressed in the tissues where transgenes are active and associated with phenotypic alterations.
Roulis, M., Kollias, G., Neff, F., Rozman, J., Rathkolb, B., De Angelis, M.H., Horsch, M., Wu, M., Armaka, M., Adler, T., Fuchs, H., Kaklamanos, A., Karagianni, N., Beckers, J., Wolf, E., Calzada-Wack, J., Gailus-Durner, V., Brachthäuser, L.   +17 more
core   +1 more source