Results 121 to 130 of about 2,622 (152)

Spectrum of novel mutations in the human PKLR gene in pyruvate kinase‐deficient Indian patients with heterogeneous clinical phenotypes

Clinical Genetics, 2009
Eighteen unrelated pyruvate kinase (PK)‐deficient Indian patients were identified in the past 4 years with varied clinical phenotypes ranging from a mild chronic haemolytic anaemia to a severe transfusion‐dependent disorder. We identified 17 different mutations in the PKLR gene among the 36 mutated alleles.
Roshan Colah, Kanjaksha Ghosh, Prabhakar Kedar   +2 more
exaly   +3 more sources

Computational analysis of non-synonymous single nucleotide polymorphism in the bovine PKLR gene

Journal of Biomolecular Structure and Dynamics, 2023
Pyruvate kinase (PKLR) is a potential candidate gene for milk production traits in cows. The main aim of this work is to investigate the potentially deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) in the PKLR gene by using several computational tools.
Anila Hoda, Xhiliola Bixheku, Mirela Lika (Çekani)   +2 more
openaire   +2 more sources

Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients

Clinical Biochemistry, 2021
Pyruvate kinase deficiency (PKD) is a rare recessive congenital hemolytic anemia caused by mutations in the PKLR gene. The disease shows a marked variability in clinical expression. We studied the molecular features of nine unrelated Argentinian patients with congenital hemolytic anemia associated with erythrocyte pyruvate kinase deficiency.Routine ...
Berenice Milanesio, Carolina Pepe, Lucas A. Defelipe, Silvia Eandi Eberle, Vanesa Avalos Gomez, Alejandro Chaves, Agustina Albero, Fernando Aguirre, Diego Fernandez, Luciana Aizpurua, María Paula Dieuzeide, Adrián Turjanski, Paola Bianchi, Elisa Fermo, Aurora Feliu-Torres   +14 more
openaire   +3 more sources

Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes

Human Genetics, 1994
Two polymorphisms, one in the liver-type pyruvate kinase gene (PKLR) and one in the glucocerebrosidase gene (GBA), both of which are on band q21 of chromosome 1, were found to be tightly linked. Each of three Gaucher disease mutations in 112 chromosomes studied was associated with a unique haplotype.
D, Glenn, T, Gelbart, E, Beutler
openaire   +2 more sources

Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family

Prenatal Diagnosis, 2006
AbstractObjectiveTo provide prenatal diagnosis of pyruvate kinase deficiency by direct DNA analysis in an Indian family.Materials and MethodThis case report describes diagnosis of a novel homozygous mutation in PKLR gene that subsequently helped the family in the next pregnancy.ResultsAdvancement in molecular genetics has resulted in the prenatal ...
Neerja, Gupta, Paola, Bianchi, Elisa, Fermo, Madhulika, Kabra, Prashant, Warang, Prabhakar, Kedar, Nomeeta, Gupta, Roshan, Colah   +7 more
openaire   +2 more sources

A novel PKLR gene mutation identified using advanced molecular techniques

Pediatric Transplantation, 2018
AbstractThis study's purposes were to diagnose intractable hemolytic anemia and to provide guiding treatment for the affected family members. We performed NGS in a panel of 600 genes for blood diseases on a patient with obscure hemolytic anemia and her parents.
Yunyan He, Jianming Luo, Yonghong Lei, Siyuan Jia, Ning Liao   +4 more
openaire   +2 more sources

Transcriptional activation of the PKLR gene by novel erythroid-specific regulatory elements

Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
The pyruvate kinase L/R (PKLR) gene encodes the L- and R-type isoforms of pyruvate kinase, which catalyze the final step of glycolysis in mammals. The L-type isozyme is mainly found in liver cells, whereas the R-type isozyme is produced specifically in erythroid cells.
Yea Woon, Kim, Jin, Kang, AeRi, Kim
openaire   +2 more sources

A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency

Journal of Pediatric Hematology/Oncology, 2019
Pyruvate kinase deficiency (PKD) is the most common glycolytic defect leading to hemolytic anemia. PKD is caused by the mutations in the PKLR gene; however, the detection of a decreased PK activity should be first measured for rapid diagnosis. We report here the case of a 1-year-old girl with mild hemolysis and PKD.
Sultan, Aydin Köker, Yeşim, Oymak, Paola, Bianchi, Salih, Gözmen, Tuba H, Karapinar, Elisa, Fermo, Raziye C, Vergin   +6 more
openaire   +2 more sources

Discovery and characterization of PKLR gene variants from malaria endemic regions

2014
Malaria has subjected a strong selective pressure on the human genome. Several well-known erythrocyte protein variants, including hemoglobin S (causing sickle cell anemia) and functional variants in glucose-6-phosphate dehydrogenase (leading to deficiency in this enzyme) have been associated with protection against severe malarial disease and are ...
openaire   +1 more source

[Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2016
To evaluate the feasibility of genetic and prenatal diagnosis for a family affected with pyruvate kinase deficiency (PKD).Targeted sequence capture and high-throughput sequencing technology was used to detect the exons and exon-intron boundaries of the PKLR gene in a clinically suspected PKD patient.
Dongliang, Li, Jing, Zhang, Baoquan, Jiao, Yanli, Liu, Youjun, Wang, Zhiwei, Wang, Wenjing, Li, Lanfen, Hou, Yu, Sun, Hongmou, Guo, Xiao, Guo   +10 more
openaire   +1 more source