Results 71 to 80 of about 2,622 (152)

Efficient CRISPR/Cas9-Mediated Gene Editing of Pklr in Human Hematopoietic Progenitors and Stem Cells for the Gene Therapy of Pyruvate Kinase Deficiency

Blood, 2018
Abstract Pyruvate kinase deficiency (PKD) is the most common erythroid inherited enzymatic defect causing chronic nonspherocytic hemolytic anemia. PKD is an autosomal recessive disorder caused by mutations in the PKLR gene, which led in a total or partial reduction of the activity of the erythroid pyruvate kinase (RPK) protein.
Oscar Quintana Bustamante, Sara Fañanas-Baquero, Daniel P. Dever, Alberquilla Omaira, Joab Camarena, Rebeca Sanchez-Dominguez, Matias Morin, Val Fernandez, Miguel Angel Moreno-Pelayo, Juan A. Bueren, Matthew Porteus, Jose C Segovia   +11 more
openaire   +1 more source

Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency

Blood, 2003
We established the molecular basis for pyruvate kinase (PK) deficiency in a white male patient with severe nonspherocytic hemolytic anemia. The paternal allele exhibited the commonPKLR cDNA sequence (c.) 1529G>A mutation, known to be associated with PK deficiency.
van Wijk, R, van Solinge, W, Nerlov, C, Beutler, E, Gelbart, T, Rijksen, G, Nielsen, F   +6 more
openaire   +3 more sources

The CIMP-high phenotype is associated with energy metabolism alterations in colon adenocarcinoma

BMC Medical Genetics, 2019
Background CpG island methylator phenotype (CIMP) is found in 15–20% of malignant colorectal tumors and is characterized by strong CpG hypermethylation over the genome. The molecular mechanisms of this phenomenon are not still fully understood.
Maria S. Fedorova, George S. Krasnov, Elena N. Lukyanova, Andrew R. Zaretsky, Alexey A. Dmitriev, Nataliya V. Melnikova, Alexey A. Moskalev, Sergey L. Kharitonov, Elena A. Pudova, Zulfiya G. Guvatova, Anastasiya A. Kobelyatskaya, Irina A. Ishina, Elena N. Slavnova, Anastasia V. Lipatova, Maria A. Chernichenko, Dmitry V. Sidorov, Anatoly Y. Popov, Marina V. Kiseleva, Andrey D. Kaprin, Anastasiya V. Snezhkina, Anna V. Kudryavtseva   +20 more
doaj   +1 more source

Case report: Modified transplantation for pediatric patients with pyruvate kinase deficiency

Frontiers in Immunology
Pyruvate kinase deficiency (PKD) is an autosomal recessive genetic disease caused by mutations in the PKLR gene. To date, the clinical manifestations of PKD are heterogeneous, ranging from fetal anemia, neonatal jaundice, and severe chronic hemolytic ...
Yuhui Pang, Xiaoyu Qi, Jiayue Qin, Xiaoran Zhai, Rongxiao Wang, Jianzhu Cao, Na Zhang, Jinxia Liu, Jianying Li, Weihai Wu, Shanshan Wei, Jingjing Zhang, Shaofei Zhang, Yaochen Zhang, Yan Yue   +14 more
doaj   +1 more source

Case Report: A research on a case of hereditary spherocytosis with idiopathic pulmonary hemosiderosis

Frontiers in Pediatrics
BackgroundTo share the experience of diagnosis and treatment on hereditary spherocytosis (HS) with idiopathic pulmonary hemosiderosis (IPH).MethodsThe clinical data of HS with IPH in a child were retrospectively analyzed based on relevant references ...
Wen xiang Li, Jing Yang, Ting Dong, Deng yan Wu, Li na Ma, Hui min Wu   +5 more
doaj   +1 more source

[Erythropyruvate kinase deficiency caused by a new mutation of PKLR gene: a case report]. [PDF]

Zhonghua Xue Ye Xue Za Zhi, 2020
Wang Y, Zhang ZH, Hao CL.
europepmc   +1 more source

Non-synonymous PKLR Gene Mutation [PDF]

, 2020
openaire   +1 more source

PKLR Gene [PDF]

, 2020
openaire   +1 more source

Case Report: Importance of high-throughput genetic investigations in the differential diagnosis of unexplained erythrocytosis

Pathology and Oncology Research
IntroductionPolycythemia indicates the pathological increase in the number of red blood cells and the rise of hematocrit values. Polyglobulia can be of primary or secondary origin, with the most common primary polycythemia being a myeloproliferative ...
Zsófia Flóra Nagy, György Pfliegler, János Kósa, Kristóf Árvai, Ildikó Istenes, Attila Doros, Botond Timár, Péter Lakatos, Judit Demeter   +8 more
doaj   +1 more source

PKLR Gene Product [PDF]

, 2020
openaire   +1 more source