Results 81 to 90 of about 2,622 (152)

PKLR Gene Mutation [PDF]

, 2020
openaire   +1 more source

Identification of glycolysis-related gene signatures for prognosis and therapeutic targeting in idiopathic pulmonary fibrosis

Frontiers in Pharmacology
BackgroundGlycolysis plays a crucial role in fibrosis, but the specific genes involved in glycolysis in idiopathic pulmonary fibrosis (IPF) are not well understood.MethodsThree IPF gene expression datasets were obtained from the Gene Expression Omnibus ...
Han Gao, Zhongyi Sun, Xingxing Hu, Weiwei Song, Yuan Liu, Menglin Zou, Menglin Zou, Minghui Zhu, Zhenshun Cheng, Zhenshun Cheng, Zhenshun Cheng   +10 more
doaj   +1 more source

In-silico approach for the identification of mirror repeats within Glucagon, Sox17, Gapdh and PKLR diabetic genes of Rattus norvegicus

International Journal of Applied Sciences and Biotechnology
Repetitive sequences are immensely distributed in the genomes of all viruses, bacteria, plants and animals. Repetitive sequences throughout the genome in both coding and non-coding regions are a major source of endogenous DNA damage, due to the propensity of many of them to form alternative non-B DNA structures that can interfere with replication ...
null Babli, Parveen Kumar
openaire   +1 more source

[Identification and characterization of PKLR gene mutation in two patients with erythrocyte pyruvate kinase deficiency]. [PDF]

Zhonghua Xue Ye Xue Za Zhi, 2017
Huang ZD, Shi J, Shao YQ, Nie N, Zhang J, Huang JB, Li XX, Ge ML, Zheng YZ.   +8 more
europepmc   +1 more source

Variants of the PKLR gene are associated with rates of hospitalization in Angolan children with sickle cell anemia

Background: Sickle cell anemia (SCA), caused by the c.20 A > T (p.Glu6Val) mutation in the HBB gene, is one of the most prevalent hereditary diseases in Sub-Saharan Africa. Patients with the HbSS genotype exhibit variable phenotypic expressions and disease severity, often reflected in hospitalization rates.
Manco, Licínio, Santos, Brígida, Faustino, Paula, Ginete, Catarina, Brito, Miguel, Arez, Ana Paula   +5 more
openaire   +1 more source

Compound heterozygosity in PKLR gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency. [PDF]

Haematologica, 2019
Bagla S, Bhambhani K, Gadgeel M, Buck S, Jin JP, Ravindranath Y.   +5 more
europepmc   +1 more source

The application of next-generation sequencing technology in congenital haemolytic anaemia: a systematic review and meta-analysis. [PDF]

Clin Exp Med
Xie S, Zhong Y.
europepmc   +1 more source

A single-center study: three years of experience with whole-exome sequencing in diagnosing pediatric hematological disorders. [PDF]

Ital J Pediatr
Salah S, Mobarak A, Alshanbari SN, Bukhari AA, Alsobhi F, Farahat SAA, Masmali HM.   +6 more
europepmc   +1 more source

SNH-119014, a novel pyruvate kinase activator, enhances ATP production and reduces oxidative stress in erythroid cells from patients with β-thalassemia major. [PDF]

Front Pharmacol
Huang Q, Huang Y, Pan L, Liu R, Lai Y.
europepmc   +1 more source

Artemether ameliorates type 1 diabetic liver injury alongside the associated defects in mitochondrial ultrastructure and central carbon metabolism. [PDF]

PLoS One
Fu Q, Li J, Gu X, Zhang Y, Han P, Yu X, Shao M, Sun H, Cai Y.   +8 more
europepmc   +1 more source