Demystifying the secret mission of enhancers: linking distal regulatory elements to target genes

L Yao, BP Berman, PJ Farnham - Critical reviews in biochemistry …, 2015 - Taylor & Francis
Enhancers are short regulatory sequences bound by sequence-specific transcription factors
and play a major role in the spatiotemporal specificity of gene expression patterns in …

Fetal hemoglobin in sickle cell anemia

MH Steinberg - Blood, The Journal of the American Society of …, 2020 - ashpublications.org
Fetal hemoglobin (HbF) can blunt the pathophysiology, temper the clinical course, and offer
prospects for curative therapy of sickle cell disease. This review focuses on (1) HbF …

Genetic variation and sickle cell disease severity: a systematic review and meta-analysis

JK Kirkham, JH Estepp, MJ Weiss… - JAMA network …, 2023 - jamanetwork.com
Importance Sickle cell disease (SCD) is a monogenic disorder, yet clinical outcomes are
influenced by additional genetic factors. Despite decades of research, the genetics of SCD …

Delivery, use and therapeutic applications of the CRISPR-Cas systems and compositions for targeting disorders and diseases using viral components

F Zhang, L Cong, RAN Fei, M Heidenreich… - US Patent …, 2021 - Google Patents
2020-05-07 First worldwide family litigation filed litigation Critical https://patents. darts-ip.
com/? family= 52105124&utm_source= google_patent&utm_medium …

Concise review: epigenetic regulation of hematopoiesis: biological insights and therapeutic applications

C Antoniani, O Romano, A Miccio - Stem cells translational …, 2017 - academic.oup.com
Hematopoiesis is the process of blood cell formation starting from hematopoietic
stem/progenitor cells (HSPCs). The understanding of regulatory networks involved in …

Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine

P Hariharan, M Gorivale, P Sawant, P Mehta… - Scientific reports, 2021 - nature.com
Hemoglobinopathies though a monogenic disorder, show phenotypic variability. Hence,
understanding the genetics underlying the heritable sub-phenotypes of …

Fetal hemoglobin in sickle cell anemia: The Arab‐Indian haplotype and new therapeutic agents

AH Habara, EM Shaikho… - American journal of …, 2017 - Wiley Online Library
Fetal hemoglobin (HbF) has well‐known tempering effects on the symptoms of sickle cell
disease and its levels vary among patients with different haplotypes of the sickle hemoglobin …

Pharmacological and molecular approaches for the treatment of β‐hemoglobin disorders

N Lohani, N Bhargava, A Munshi… - Journal of cellular …, 2018 - Wiley Online Library
β‐hemoglobin disorders, such as β‐thalassemia and sickle cell anemia are among the most
prevalent inherited genetic disorders worldwide. These disorders are caused by mutations …

Biological impact of α genes, β haplotypes, and G6PD activity in sickle cell anemia at baseline and with hydroxyurea

F Bernaudin, C Arnaud, A Kamdem, I Hau… - Blood …, 2018 - ashpublications.org
Sickle cell anemia (SCA), albeit monogenic, has heterogeneous phenotypic expression,
mainly related to the level of hemoglobin F (HbF). No large cohort studies have ever …

Reduced rate of sickle‐related complications in Brazilian patients carrying HbF‐promoting alleles at the BCL11A and HMIP‐2 loci

FC Leonardo, AF Brugnerotto… - British journal of …, 2016 - Wiley Online Library
The presence of high levels of fetal haemoglobin (HbF) provides well‐validated clinical
benefits to patients with sickle cell anaemia (SCA). Nevertheless it has been difficult to show …