Results 81 to 90 of about 82,601 (269)

Plasmepsins as Antimalarial Drug Targets—Then, Now, and the Future

Medicinal Research Reviews, EarlyView.
ABSTRACT Malaria is a devastating disease caused by Plasmodium parasites. Plasmodium parasites express ten cathepsin D‐like aspartyl proteases, called plasmepsins (PMs). These PMs have diverse roles fulfill diverse functions throughout the parasite's lifecycle, though several exhibit functional redundancies. Among them, PMV, PMIV, and PMX are essential
Brad E. Sleebs
wiley   +1 more source

Unveiling the molecular landscape of δ-thalassemia and δ-globin variants in southern China: novel mutations, gene spectrum, and implications for thalassemia diagnosis

Frontiers in Genetics
Objectivesδ-thalassemia and δ-globin variants are rare hemoglobinopathies. However, co-inheritance of β-thalassemia and δ-globin gene mutations may affect the diagnosis of β-thalassemia carriers when based on the elevated Hb A2.
Youqiong Li, Lihua Ye, Liang Liang, Lihong Zheng, Yongjun Xiao, Zhongchan Lao, Jinping Bai, Xi He, Qixun Fang, Ting Qin   +9 more
doaj   +1 more source

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

Prenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

Structural and functional characterization of CSDA protein complexes involved in the modulation of fetal globin gene expression

, 2009
Impaired switching from fetal hemoglobin (HbF) to adult globin gene expression leads to hereditary persistence of fetal hemoglobin (HPFH) in adult life.
Gaudino, Sara
core  

A pool of nonpolysomal globin mRNAs in globin deficient reticulocytes of the anemic Belgrade rat

, 1982
In anemia of the Belgrade rat ( b b) reticulocytes contain less than half of the normal amount of mRNA for seven adult rat globin chains. cDNA hybridization measurements of the relative sizes of polysomal and nonpolysomal pools of globin mRNAs in these ...
Glišin, V., Maksimović, Vesna M, Crkvenjakov, R.   +2 more
core   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Roles of fetal G gamma-globin promoter elements and the adult beta-globin 3' enhancer in the stage-specific expression of globin genes

, 1990
The human fetal G gamma-globin and adult beta-globin genes are expressed in a tissue- and developmental stage-specific pattern in transgenic mice: the G gamma gene in embryonic cells and the beta gene in fetal and adult erythroid cells.
Costantini, F, Perez-Stable, C
core   +1 more source

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

The murine β-globin locus.

, 2014
The murine β-globin locus is depicted with the β-globin genes represented by triangles and known or putative regulatory sequences, to which DNaseI HSs have been mapped, by vertical arrows.
George Fromm (561951), Jennifer Fields (561953), Brenda Cadiz-Rivera (561950), Christina de Vries (561952), Kathleen E. McGrath (561954), Steven Fiering (561955), Michael Bulger (333920)   +6 more
core   +1 more source

Sickle Cell Disease: Historical Overview and Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide, yet the limited treatment options currently available do not always adequately control the disease and carry significant side effects. At present, the only curative treatment is hematopoietic stem cell (HSC) transplantation, a procedure that carries considerable challenges and numerous ...
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source