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Items: 1 to 20 of 247

1.
Post-GWAS Validation of Target Genes Associated with HbF and HbA2 Levels
Cristian Antonio Caria, Valeria Faà, Susanna Porcu, Maria Franca Marongiu, Daniela Poddie, Lucia Perseu, Alessandra Meloni, Simona Vaccargiu, Maria Serafina Ristaldi
Cells. 2024 Jul; 13(14): 1185. Published online 2024 Jul 12. doi: 10.3390/cells13141185
PMCID:
PMC11274989
AbstractArticlePDF–1.6M
2.
HBB as a Novel Biomarker for the Diagnosis and Monitoring of Lung Cancer Regulates Cell Proliferation via ERK1/2 Pathway
Xinxin Xu, Hua Cai, Jingjing Peng, Hongli Liu, Fuying Chu
Technol Cancer Res Treat. 2024; 23: 15330338241249032. Published online 2024 Apr 28. doi: 10.1177/15330338241249032
PMCID:
PMC11057351
AbstractArticlePDF–1.2M
3.
Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families
Xiuqin Bao, Danqing Qin, Jicheng Wang, Jing Chen, Cuize Yao, Jie Liang, Kailing Liang, Yixia Wang, Yousheng Wang, Li Du, Aihua Yin
Hum Genomics. 2023; 17: 111. Published online 2023 Dec 8. doi: 10.1186/s40246-023-00559-4
PMCID:
PMC10704694
AbstractArticlePDF–1.2M
4.
Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp HBB deletion
Xunde Wang, Julia Z Xu, Anna Conrey, Laurel Mendelsohn, Daniel Shriner, Mehdi Pirooznia, Swee Lay Thein
J Med Genet. Author manuscript; available in PMC 2023 Dec 2.
Published in final edited form as: J Med Genet. 2020 Aug; 57(8): 567–570. Published online 2020 Jan 30. doi: 10.1136/jmedgenet-2019-106698
PMCID:
PMC10692763
AbstractArticlePDF–404K
5.
CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells
J. Boutin, J. Rosier, D. Cappellen, F. Prat, J. Toutain, P. Pennamen, J. Bouron, C. Rooryck, J. P. Merlio, I. Lamrissi-Garcia, G. Cullot, S. Amintas, V. Guyonnet-Duperat, C. Ged, J. M. Blouin, E. Richard, S. Dabernat, F. Moreau-Gaudry, A. Bedel
Nat Commun. 2021; 12: 4922. Published online 2021 Aug 13. doi: 10.1038/s41467-021-25190-6
PMCID:
PMC8363739
AbstractArticlePDF–2.0M
6.
Evolutionary history of sickle-cell mutation: implications for global genetic medicine
Kevin Esoh, Ambroise Wonkam
Hum Mol Genet. 2021 Mar 1; 30(R1): R119–R128. Published online 2021 Jan 18. doi: 10.1093/hmg/ddab004
PMCID:
PMC8117455
AbstractArticlePDF–778K
7.
Effects of α subunit substitutions on the oxidation of βCys93 and the stability of sickle cell hemoglobin
Wayne Hicks, Fantao Meng, Tigist Kassa, Abdu I. Alayash
Redox Rep. 2020; 25(1): 95–103. Published online 2020 Oct 15. doi: 10.1080/13510002.2020.1834250
PMCID:
PMC7594797
AbstractArticlePDF–1.7M
8.
Allosteric control of hemoglobin S fiber formation by oxygen and its relation to the pathophysiology of sickle cell disease
Eric R. Henry, Troy Cellmer, Emily B. Dunkelberger, Belhu Metaferia, James Hofrichter, Quan Li, David Ostrowski, Rodolfo Ghirlando, John M. Louis, Stéphane Moutereau, Frédéric Galactéros, Swee Lay Thein, Pablo Bartolucci, William A. Eaton
Proc Natl Acad Sci U S A. 2020 Jun 30; 117(26): 15018–15027. Published online 2020 Jun 11. doi: 10.1073/pnas.1922004117
PMCID:
PMC7334536
AbstractArticlePDF–1.2M
9.
The Homozygous Hemoglobin EE Variant Is Associated with Poorer Riboflavin Status in Cambodian Women of Reproductive Age
Brock A Williams, Kelsey M Cochrane, Jordie A J Fischer, Abeer M Aljaadi, Liadhan McAnena, Mary Ward, Helene McNulty, Hou Kroeun, Tim J Green, Kyly C Whitfield, Crystal D Karakochuk
J Nutr. 2020 Jul; 150(7): 1943–1950. Published online 2020 May 20. doi: 10.1093/jn/nxaa119
PMCID:
PMC7330481
AbstractArticlePDF–251K
10.
Hb S/β-Thalassemia in the REDS-III Brazil Sickle Cell Disease Cohort: Clinical, Laboratory and Molecular Characteristics
André R. Belisário, Anna B. Carneiro-Proietti, Ester Cerdeira Sabino, Aderson Araújo, Paula Loureiro, Cláudia Máximo, Miriam V. Flor-Park, Daniela DOW Rodrigues, Mina Cintho Ozahata, Christopher McClure, Rosimere Afonso Mota, Isabel C. Gomes Moura, Brian Custer, Shannon Kelly
Hemoglobin. Author manuscript; available in PMC 2021 Mar 16.
Published in final edited form as: Hemoglobin. 2020 Jan; 44(1): 1–9. Published online 2020 Mar 16. doi: 10.1080/03630269.2020.1731530
PMCID:
PMC7225056
AbstractArticlePDF–428K
11.
Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations
Madeline H. Kowalski, Huijun Qian, Ziyi Hou, Jonathan D. Rosen, Amanda L. Tapia, Yue Shan, Deepti Jain, Maria Argos, Donna K. Arnett, Christy Avery, Kathleen C. Barnes, Lewis C. Becker, Stephanie A. Bien, Joshua C. Bis, John Blangero, Eric Boerwinkle, Donald W. Bowden, Steve Buyske, Jianwen Cai, Michael H. Cho, Seung Hoan Choi, Hélène Choquet, L. Adrienne Cupples, Mary Cushman, Michelle Daya, Paul S. de Vries, Patrick T. Ellinor, Nauder Faraday, Myriam Fornage, Stacey Gabriel, Santhi K. Ganesh, Misa Graff, Namrata Gupta, Jiang He, Susan R. Heckbert, Bertha Hidalgo, Chani J. Hodonsky, Marguerite R. Irvin, Andrew D. Johnson, Eric Jorgenson, Robert Kaplan, Sharon L. R. Kardia, Tanika N. Kelly, Charles Kooperberg, Jessica A. Lasky-Su, Ruth J. F. Loos, Steven A. Lubitz, Rasika A. Mathias, Caitlin P. McHugh, Courtney Montgomery, Jee-Young Moon, Alanna C. Morrison, Nicholette D. Palmer, Nathan Pankratz, George J. Papanicolaou, Juan M. Peralta, Patricia A. Peyser, Stephen S. Rich, Jerome I. Rotter, Edwin K. Silverman, Jennifer A. Smith, Nicholas L. Smith, Kent D. Taylor, Timothy A. Thornton, Hemant K. Tiwari, Russell P. Tracy, Tao Wang, Scott T. Weiss, Lu-Chen Weng, Kerri L. Wiggins, James G. Wilson, Lisa R. Yanek, Sebastian Zöllner, Kari E. North, Paul L. Auer, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology & Hemostasis Working Group, Laura M. Raffield, Alexander P. Reiner, Yun Li
PLoS Genet. 2019 Dec; 15(12): e1008500. Published online 2019 Dec 23. doi: 10.1371/journal.pgen.1008500
PMCID:
PMC6953885
AbstractArticlePDF–1.0M
12.
Identification of the four most common β‐globin gene mutations in Greek β‐thalassemic patients and carriers by PCR‐SSCP: advantages and limitations of the method
Konstantinos V. Kakavas, Argiris Noulas, Christos Chalkias, Christos Hadjichristodoulou, Ioannis Georgiou, Elena Georgatsou, Sophia Bonanou
J Clin Lab Anal. 2006; 20(1): 1–7. Published online 2006 Feb 8. doi: 10.1002/jcla.20091
PMCID:
PMC6807422
AbstractArticlePDF–251K
13.
Effect of N(Epsilon)-(carboxymethyl)lysine on Laboratory Parameters and Its Association with βS Haplotype in Children with Sickle Cell Anemia
Uche Samuel Ndidi, Corynne Stephanie Ahouefa Adanho, Rayra Pereira Santiago, Sètondji Cocou Modeste Alexandre Yahouédéhou, Sânzio Silva Santana, Vitor Valério Mafili, Thassila Nogueira Pitanga, Cleverson Alves Fonseca, Junia Raquel Dutra Ferreira, Elisângela Vitoria Adorno, Isa Menezes Lyra, Adekunle D. Adekile, Cynara Gomes Barbosa, Marilda Souza Goncalves
Dis Markers. 2019; 2019: 1580485. Published online 2019 Sep 15. doi: 10.1155/2019/1580485
PMCID:
PMC6766128
AbstractArticlePDF–805K
14.
Scanning of β‐globin gene for identification of β‐thalassemia mutation in Romanian population
R. Talmaci, J. Traeger‐Synodinos, E. Kanavakis, D. Coriu, D. Colita, L. Gavrila
J Cell Mol Med. 2004 Apr; 8(2): 232–240. Published online 2007 May 1. doi: 10.1111/j.1582-4934.2004.tb00278.x
PMCID:
PMC6740280
AbstractArticlePDF–772K
15.
Human Hemoglobin Subunit Beta Functions as a Pleiotropic Regulator of RIG-I/MDA5-Mediated Antiviral Innate Immune Responses
Qian Yang, Si-Yu Bai, Lian-Feng Li, Su Li, Yuexiu Zhang, Muhammad Munir, Hua-Ji Qiu
J Virol. 2019 Aug 15; 93(16): e00718-19. Prepublished online 2019 Jun 5. Published online 2019 Jul 30. doi: 10.1128/JVI.00718-19
PMCID:
PMC6675906
AbstractArticlePDF–5.5M
16.
Computational Analysis of Protein Structure Changes as a Result of Nondeletion Insertion Mutations in Human β-Globin Gene Suggests Possible Cause of β-Thalassemia
Talal Qadah, Mohammad Sarwar Jamal
Biomed Res Int. 2019; 2019: 9210841. Published online 2019 May 29. doi: 10.1155/2019/9210841
PMCID:
PMC6582885
AbstractArticlePDF–3.0M
17.
Fannin-Lubbock-I [α2β2119(GLY>ASP)], a rare mutation in the beta-globin gene, has been detected for the first time in a Hindu Brahmin family in West Bengal, India
Jayasri Basak, Deboshree M. Bhattacharyya, Ashis Mukhopadhyay
Cell Mol Biol Lett. 2014 Jun; 19(2): 277–283. Published online 2014 May 6. doi: 10.2478/s11658-014-0192-6
PMCID:
PMC6275635
SummaryPDF–1.8M
18.
Hemoglobin E protects against acute Plasmodium vivax infections in a Kachin population at the China-Myanmar border
Zeshuai Deng, Qing Li, Haoan Yi, Yanjie Zhang, Fang Yang, Hong Li, Lan Luo, Limei Ma, Zhaoqing Yang, Yongshu He, Liwang Cui
J Infect. Author manuscript; available in PMC 2019 Nov 1.
Published in final edited form as: J Infect. 2018 Nov; 77(5): 435–439. Published online 2018 Jun 28. doi: 10.1016/j.jinf.2018.06.005
PMCID:
PMC6202144
AbstractArticlePDF–418K
19.
Association of Sickle Cell Trait With Ischemic Stroke Among African Americans: A Meta-analysis
Hyacinth I. Hyacinth, Cara L. Carty, Samantha R. Seals, Marguerite R. Irvin, Rakhi P. Naik, Gregory L. Burke, Neil A. Zakai, James G. Wilson, Nora Franceschini, Cheryl A. Winkler, Victor A. David, Jeffrey B. Kopp, Suzanne E. Judd, Robert J. Adams, W. T. Longstreth, Jr, Leonard Egede, Daniel T. Lackland, Herman Taylor, JoAnn E. Manson, Virginia Howard, Matthew Allison, Beatrice E. Gee, Adolfo Correa, Monika M. Safford, Donna K. Arnett, George Howard, Alexander P. Reiner, Mary Cushman
JAMA Neurol. 2018 Jul; 75(7): 802–807. Published online 2018 Apr 23. doi: 10.1001/jamaneurol.2018.0571
PMCID:
PMC6145767
AbstractArticle
20.
Non-conventional role of haemoglobin beta in breast malignancy
Marco Ponzetti, Mattia Capulli, Adriano Angelucci, Luca Ventura, Simona Delle Monache, Cinzia Mercurio, Alessia Calgani, Patrizia Sanità, Anna Teti, Nadia Rucci
Br J Cancer. 2017 Sep 26; 117(7): 994–1006. Published online 2017 Aug 3. doi: 10.1038/bjc.2017.247
PMCID:
PMC5625664
AbstractArticlePDF–2.8M

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