نتایج جستجو برای: bcl11a

تعداد نتایج: 301  

2016
Nasrin Heydari Laleh Shariati Hossein Khanahmad Zahra Hejazi Mansoureh Shahbazi Mansoor Salehi

OBJECTIVES β-thalassemia is one of the most common genetic disorders in the world. As one of the promising treatment strategies, fetal hemoglobin (Hb F) can be induced. The present study was an attempt to reactivate the γ-globin gene by introducing a gene construct containing KLF1 binding sites to the K562 cell line. MATERIALS AND METHODS A plasmid containing a 192 bp sequence with two repeat...

Journal: :Blood 2011
John J Farrell Richard M Sherva Zhi-Yi Chen Hong-Yuan Luo Benjamin F Chu Shau Yin Ha Chi Kong Li Anselm C W Lee Rever C H Li Chi Keung Li Hui Leung Yuen Jason C C So Edmond S K Ma Li Chong Chan Vivian Chan Paola Sebastiani Lindsay A Farrer Clinton T Baldwin Martin H Steinberg David H K Chui

Fetal hemoglobin (HbF) is regulated as a multigenic trait. By genome-wide association study, we confirmed that HBS1L-MYB intergenic polymorphisms (HMIP) and BCL11A polymorphisms are highly associated with HbF in Chinese β-thalassemia heterozygotes. In this population, the variance in HbF resulting from the HMIP is 13.5%; that resulting from the BCL11A polymorphism is 6.4%. To identify the funct...

Journal: :Blood 2013
Elizabeth R Macari Emily K Schaeffer Rachel J West Christopher H Lowrey

UNLABELLED Although increased fetal hemoglobin (HbF) levels have proven benefit for people with β-hemoglobinopathies, all current HbF-inducing agents have limitations. We previously reported that drugs that activate the NRF2 antioxidant response signaling pathway increase HbF in primary human erythroid cells. In an attempt to increase HbF levels achieved with NRF2 activators, in the present stu...

Journal: :Proceedings of the National Academy of Sciences 2013

Journal: :Annals of the New York Academy of Sciences 2016

Journal: :Blood 2013
Y Terry Lee Jaira F de Vasconcellos Joan Yuan Colleen Byrnes Seung-Jae Noh Emily R Meier Ki Soon Kim Antoinette Rabel Megha Kaushal Stefan A Muljo Jeffery L Miller

Reactivation of fetal hemoglobin (HbF) holds therapeutic potential for sickle cell disease and β-thalassemias. In human erythroid cells and hematopoietic organs, LIN28B and its targeted let-7 microRNA family, demonstrate regulated expression during the fetal-to-adult developmental transition. To explore the effects of LIN28B in human erythroid cell development, lentiviral transduction was used ...

2011
Antonio Cao Paolo Moi Renzo Galanello

β-thalassemias are heterogeneous hereditary anemias characterized by a reduced output of β-globin chains. The disease is most frequent in the temperate regions of the world, where it represents an important health problem. In the last decades, several programs, aimed at controlling the birth rate of thalassemia newborns by screening and prenatal diagnosis of populations with high risk of β-thal...

Journal: :JCI insight 2016
Hani Bagheri Chansonette Badduke Ying Qiao Rita Colnaghi Iga Abramowicz Diana Alcantara Christopher Dunham Jiadi Wen Robert S Wildin Malgorzata J M Nowaczyk Jennifer Eichmeyer Anna Lehman Bruno Maranda Sally Martell Xianghong Shan Suzanne M E Lewis Mark O'Driscoll Cheryl Y Gregory-Evans Evica Rajcan-Separovic

The 2p15p16.1 microdeletion syndrome has a core phenotype consisting of intellectual disability, microcephaly, hypotonia, delayed growth, common craniofacial features, and digital anomalies. So far, more than 20 cases of 2p15p16.1 microdeletion syndrome have been reported in the literature; however, the size of the deletions and their breakpoints vary, making it difficult to identify the candid...

2014
Siana Nkya Mtatiro Tarjinder Singh Helen Rooks Josephine Mgaya Harvest Mariki Deogratius Soka Bruno Mmbando Evarist Msaki Iris Kolder Swee Lay Thein Stephan Menzel Sharon E. Cox Julie Makani Jeffrey C. Barrett

BACKGROUND Fetal hemoglobin (HbF) is an important modulator of sickle cell disease (SCD). HbF has previously been shown to be affected by variants at three loci on chromosomes 2, 6 and 11, but it is likely that additional loci remain to be discovered. METHODS AND FINDINGS We conducted a genome-wide association study (GWAS) in 1,213 SCA (HbSS/HbSβ0) patients in Tanzania. Genotyping was done wi...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید