Results 71 to 80 of about 74,517 (259)

Genetics Influences Telomere Length in Parkinson's Disease: A Study in Monozygotic Discordant Twins

Movement Disorders, EarlyView.
Abstract Background Parkinson's disease (PD) results from complex interactions among environmental, genetic, and aging factors. Telomeres, which ensure chromosome stability, naturally shorten with cell division, contributing to aging and cellular senescence.
Letizia Straniero, Valeria Rimoldi, Emanuele Cereda, Giulia Soldà, Daniela Calandrella, Stefano Duga, Samanta Mazzetti, Graziella Cappelletti, Ioannis U. Isaias, Gianni Pezzoli, Rosanna Asselta   +10 more
wiley   +1 more source

Use of 3D chaos game representation to quantify DNA sequence similarity with applications for hierarchical clustering [PDF]

Journal of Theoretical Biology, Vol.596, 111972, 2025
A 3D chaos game is shown to be a useful way for encoding DNA sequences. Since matching subsequences in DNA converge in space in 3D chaos game encoding, a DNA sequence's 3D chaos game representation can be used to compare DNA sequences without prior alignment and without truncating or padding any of the sequences.
arxiv   +1 more source

Control of Globin Gene Transcription [PDF]

Annual Review of Cell Biology, 1990
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Evans, Todd, Felsenfeld, Gary, Reitman, Marc   +2 more
openaire   +4 more sources

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

ATF4 Regulates MYB to Increase γ-Globin in Response to Loss of β-Globin

Cell Reports, 2020
Summary: β-Hemoglobinopathies can trigger rapid production of red blood cells in a process known as stress erythropoiesis. Cellular stress prompts differentiating erythroid precursors to express high levels of fetal γ-globin.
Mandy Y. Boontanrart, Markus S. Schröder, Gautier M. Stehli, Marija Banović, Stacia K. Wyman, Rachel J. Lew, Matteo Bordi, Benjamin G. Gowen, Mark A. DeWitt, Jacob E. Corn   +9 more
doaj  

siRNA-mediated reduction of α-globin results in phenotypic improvements in β-thalassemic cells

Haematologica, 2008
β-thalassemia is an inherited hemoglobinopathy caused by defective synthesis of the β-globin chain of hemoglobin, leading to imbalanced globin chain synthesis.
Hsiao Phin Joanna Voon, Hady Wardan, Jim Vadolas   +2 more
doaj   +1 more source

Mild dyserythropoiesis and β-like globin gene expression imbalance due to the loss of histone chaperone ASF1B

Human Genomics, 2020
The expression of the human β-like globin genes follows a well-orchestrated developmental pattern, undergoing two essential switches, the first one during the first weeks of gestation (ε to γ), and the second one during the perinatal period (γ to β). The
Petros Papadopoulos, Athanassia Kafasi, Iris M. De Cuyper, Vilma Barroca, Daniel Lewandowski, Zahra Kadri, Martijn Veldthuis, Jeffrey Berghuis, Nynke Gillemans, Celina María Benavente Cuesta, Frank G. Grosveld, Rob van Zwieten, Sjaak Philipsen, Muriel Vernet, Laura Gutiérrez, George P. Patrinos   +15 more
doaj   +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

Variation in RNA-Seq transcriptome profiles of peripheral whole blood from healthy individuals with and without globin depletion. [PDF]

PLoS ONE, 2014
BackgroundThe molecular profile of circulating blood can reflect physiological and pathological events occurring in other tissues and organs of the body and delivers a comprehensive view of the status of the immune system.
Heesun Shin, Casey P Shannon, Nick Fishbane, Jian Ruan, Mi Zhou, Robert Balshaw, Janet E Wilson-McManus, Raymond T Ng, Bruce M McManus, Scott J Tebbutt, PROOF Centre of Excellence Team   +10 more
doaj   +1 more source

Modeling truncated hemoglobin vibrational dynamics [PDF]

arXiv, 2004
We present a study on the near equilibrium dynamics of two small proteins in the family of truncated hemoglobins, developed under the framework of a Gaussian network approach. Effective beta carbon atoms are taken into account besides C-alphas for all residues but glycines in the coarse-graining procedure, without leading to an increase in the degrees ...
arxiv