Results 51 to 60 of about 806,334 (155)
Transfusion, EarlyView.Abstract Background Although widely studied and reported for more than 30 years, the molecular basis of Rh D‐negativity has remained unexplored in several regions of the world, including in Indonesia, Southeast Asia. Study Design and Methods A subset of 436 Indonesian blood donors originally typed D‐negative (D–) by routine serological testing was ...
Tonny Wongso +11 more
wiley +1 more source
Tetracycline-inducible SOD1 minigene system.
, 2014 A) Strategy for quantification of SOD1 minigene expression by qRT/PCR. Minigene expression was distinguished from that of the endogenous SOD1 gene using forward or reverser primers homologous to pcDNA4 vector sequence. Spliced mRNA was distinguished from
Timothy A. Vickers (605766) +1 more
core +1 more source
Evaluation of the first automated thyroglobulin assay [PDF]
, 1999 The aim of this study was to investigate technical and analytical performance of the first automated thyroglobulin (Tg) assay (DPC-Immulite(R); Diagnostic Products Corporation, Los Angeles, USA).
Jacob, Karl +3 more
core +1 more source
Frontiers in GeneticsObjective: The objective of this study was to pinpoint pathogenic genes and assess the mutagenic pathogenicity in two pediatric patients with hereditary spherocytosis.Methods: We utilized whole-exome sequencing (WES) for individual analysis (case 1) and ...
Ting Xiong +6 more
doaj +1 more source
Frontiers in Neurology, 2023 IntroductionPure hereditary spastic paraplegia (SPG) type 4 (SPG4) is caused by mutations of SPAST gene. This study aimed to analyze SPAST variants in SPG4 patients to highlight the occurrence of splicing mutations and combine functional studies to ...
Rosangela Ferese +23 more
doaj +1 more source
Transfusion, EarlyView.Abstract Background The increasing diversity of blood donor populations has created new challenges for transfusion services worldwide. The identification of donors lacking relevant high‐prevalence antigens is becoming increasingly important to ensure compatible blood products for alloimmunized patients and to support the development of rare donor ...
Sarah Petermann +7 more
wiley +1 more source
Identification of the RHD novel allele c. 801+2T>G and study of its effect on RhD phenotype in vitro
Zhongguo shuxue zazhi[Objective] To further identify the RhD phenotype and RHD genotype in the individual who have RhD negative phenotype in the primary screening, and to analyze the effect of c. 801+2T>G mutation on RhD phenotype by minigene splicing assay.
JIA Shuangshuang +5 more
doaj +1 more source
RNA‐Guided Engineering of the Chloroplast Genome Enabled by Plastid‐Expressed Guide RNAs
Plant Biotechnology Journal, Volume 24, Issue 10, Page 5498-5509, October 2026.ABSTRACT Our goal is to develop RNA‐guided engineering of the chloroplast genome using the CRISPR/Cas9 system. We designed chloroplast minigenes to obtain properly sized single guide RNAs (sgRNAs) in tobacco chloroplasts. The sgRNA 5′ end is defined by transcription from an rRNA operon promoter, and its 3′ end by processing a downstream tRNA (trnG) or ...
Malihe Mirzaee +3 more
wiley +1 more source
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay. [PDF]
, 2015 BACKGROUND: Cystic fibrosis, caused by mutations of the CFTR gene, is the most common autosomal recessive condition in the European population and there are specific screening programs aimed at investigating healthy carriers.
Giorgi, G +12 more
core +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1851-1865, September 2026.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source