Academic Journal
Προβολή σε EDS
Συνδεδεμένο Πλήρες Κείμενο

A mouse model for hemoglobin SC disease recapitulates characteristic human pathologies.

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος: A mouse model for hemoglobin SC disease recapitulates characteristic human pathologies.
Συγγραφείς: Zhai J; Center for Advanced Genome Engineering, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN., Papizan JB; Center for Advanced Genome Engineering, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN., Yao Y; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN., Arnold ED; Center for Advanced Genome Engineering, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN., Yu J; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN., Tran T; Center of Excellence for Leukemia Studies, Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN., Geiger N; Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN., Gollamudi J; Department of Internal Medicine, University of Cincinnati, Cincinnati, OH., Little DR; Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN., Jadeja RN; Department of Biochemistry and Molecular Biology, Medical College of Georgia at Augusta University, Augusta, GA., John J; Center for Bioimage Informatics, St. Jude Children's Research Hospital, Memphis, TN., Khalighifar A; Center for Bioimage Informatics, St. Jude Children's Research Hospital, Memphis, TN., Mayberry K; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN., McEvoy J; Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN., Rooney R; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN., Venkataraman K; Center for Bioimage Informatics, St. Jude Children's Research Hospital, Memphis, TN., Vu HS; Center of Excellence for Leukemia Studies, Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN., Zhang J; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN., Dyer M; Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN., Gallagher PG; Department of Pediatrics, Center for Perinatal Research, Abigail Wexner Research Institute, Nationwide Children's Hospital, The Ohio State University, Columbus, OH., Hyacinth HI; Department of Neurology and Rehabilitation Medicine, University of Cincinnati College of Medicine, Cincinnati, OH., Janke LJ; Comparative Pathology Core, Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN., Martin PM; Department of Biomedical Sciences, School of Graduate Studies, Meharry Medical College, Nashville, TN., Ni M; Division of Molecular Oncology, Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN., Xu J; Center of Excellence for Leukemia Studies, Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN., Yen JS; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN., Zheng Y; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN., Weiss MJ; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN., Pruett-Miller SM; Center for Advanced Genome Engineering, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN.
Πηγή: Blood advances [Blood Adv] 2025 Dec 09; Vol. 9 (23), pp. 6220-6233.
Τύπος έκδοσης: Journal Article
Γλώσσα: English
Στοιχεία περιοδικού: Publisher: American Society of Hematology Country of Publication: United States NLM ID: 101698425 Publication Model: Print Cited Medium: Internet ISSN: 2473-9537 (Electronic) Linking ISSN: 24739529 NLM ISO Abbreviation: Blood Adv Subsets: MEDLINE
Imprint Name(s): Original Publication: Washington, DC : American Society of Hematology, [2016]-
Ιατρικοί όροι (MeSH): Hemoglobin SC Disease*/genetics , Hemoglobin SC Disease*/pathology , Anemia, Sickle Cell*/genetics , Anemia, Sickle Cell*/pathology , Disease Models, Animal*, beta-Globins/genetics ; alpha-Globins/genetics ; Animals ; Mice ; Humans ; Alleles
Περίληψη: Abstract: Sickle cell disease (SCD) is a common, life-threatening group of disorders caused by missense mutations in the β-globin gene (HBB). Mouse models have helped to elucidate the most common form of SCD (hemoglobin SS [HbSS]; homozygous p.Glu6Val) and develop new therapies. In contrast, a lack of animal models has restricted research on the second most common form of SCD (hemoglobin SC [HbSC]; p.Glu6Val/p.Glu6Lys). We used CRISPR genome engineering to generate HbSC alleles in the Townes mouse strain, which harbors human α- and β-globin genes in place of the mouse counterparts. Compared to Townes HbSS mice, HbSC mice exhibited signature pathologies that distinguish HbSC disease in humans.
(© 2025 American Society of Hematology. Published by Elsevier Inc. Licensed under Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0), permitting only noncommercial, nonderivative use with attribution. All other rights reserved.)
Σχόλια: Comment in: Blood Adv. 2025 Dec 9;9(23):6234-6235. doi: 10.1182/bloodadvances.2025018018.. (PMID: 41364450)
References: Blood. 2006 Jul 1;108(1):123-33. (PMID: 16527892)
Am J Hematol. 1982 Aug;13(1):37-51. (PMID: 7137165)
Paediatr Respir Rev. 2014 Mar;15(1):4-12. (PMID: 24361300)
Physiol Rev. 2005 Jan;85(1):179-200. (PMID: 15618480)
Blood. 2025 Jul 3;146(1):13-28. (PMID: 40324066)
Blood. 2006 Aug 15;108(4):1183-8. (PMID: 16638928)
J Mech Behav Biomed Mater. 2015 Aug;48:220-228. (PMID: 25957113)
Haematologica. 2021 Oct 01;106(10):2707-2719. (PMID: 32855279)
Am J Hematol. 2019 May;94(5):575-584. (PMID: 30784099)
J Clin Med. 2020 May 25;9(5):. (PMID: 32466239)
Br J Haematol. 2023 Sep;202(5):e46-e49. (PMID: 37376967)
Nat Rev Dis Primers. 2018 Mar 15;4:18010. (PMID: 29542687)
BMC Hematol. 2017 Sep 15;17:15. (PMID: 28932402)
J Med Screen. 2008;15(1):9-13. (PMID: 18416948)
Blood Adv. 2023 Jul 11;7(13):3312-3319. (PMID: 36799926)
Comp Med. 2015 Jun;65(3):196-201. (PMID: 26141444)
Invest Ophthalmol Vis Sci. 2013 Jul 24;54(7):4974-81. (PMID: 23800770)
Endocrinology. 2016 Aug;157(8):3036-46. (PMID: 27171384)
Curr Opin Hematol. 2021 May 1;28(3):171-176. (PMID: 33631786)
Blood Rev. 2003 Sep;17(3):167-78. (PMID: 12818227)
Proc Natl Acad Sci U S A. 2009 Oct 13;106(41):17413-8. (PMID: 19805084)
Am J Hematol. 2022 Mar 1;97(3):E125-E128. (PMID: 34967959)
Haematologica. 2022 Jan 01;107(1):338-341. (PMID: 34670360)
J Clin Densitom. 2025 Apr-Jun;28(2):101565. (PMID: 39908702)
Science. 1997 Oct 31;278(5339):873-6. (PMID: 9346487)
Am J Hematol. 2023 Jul;98(7):1017-1028. (PMID: 36971592)
Proc Natl Acad Sci U S A. 1982 Dec;79(23):7527-31. (PMID: 6961429)
Science. 1949 Nov 25;110(2865):543-8. (PMID: 15395398)
Biochim Biophys Acta. 1959 Dec;36:402-11. (PMID: 13852872)
Nat Metab. 2022 Dec;4(12):1775-1791. (PMID: 36443523)
N Engl J Med. 2017 Apr 20;376(16):1561-1573. (PMID: 28423290)
Elife. 2022 Aug 15;11:. (PMID: 35969037)
Blood Cells Mol Dis. 2024 Jan;104:102776. (PMID: 37391346)
Blood. 2015 Nov 12;126(20):2320-8. (PMID: 26330244)
Br J Haematol. 2017 Feb;176(4):515-526. (PMID: 27982424)
Blood. 1991 Oct 15;78(8):2104-12. (PMID: 1912587)
Nucleic Acids Res. 2021 Jul 2;49(W1):W388-W396. (PMID: 34019663)
Cells. 2021 Apr 05;10(4):. (PMID: 33916502)
Br J Haematol. 2024 Aug;205(2):653-663. (PMID: 38898714)
Science. 2024 Nov 15;386(6723):eadh9215. (PMID: 39541460)
Br J Haematol. 2005 May;129(4):482-90. (PMID: 15877730)
Haematologica. 2012 Aug;97(8):1136-41. (PMID: 22315500)
PLoS One. 2020 Jan 29;15(1):e0228399. (PMID: 31995624)
EBioMedicine. 2015 Sep 18;2(11):1669-76. (PMID: 26870793)
Arch Osteoporos. 2021 Feb 16;16(1):33. (PMID: 33594610)
Anemia. 2011;2011:248527. (PMID: 21490760)
Blood. 1992 Feb 1;79(3):793-7. (PMID: 1732017)
Lancet. 2013 Jan 12;381(9861):142-51. (PMID: 23103089)
Br J Haematol. 2015 Nov;171(4):631-7. (PMID: 26255986)
Mol Neurodegener. 2025 Jan 20;20(1):8. (PMID: 39833899)
Leukemia. 2022 Oct;36(10):2535-2538. (PMID: 35999261)
Trends Mol Med. 2025 May;31(5):413-423. (PMID: 39643521)
Am J Hematol. 2006 Apr;81(4):236-41. (PMID: 16550513)
Blood Adv. 2019 May 14;3(9):1476-1488. (PMID: 31072833)
Sci Rep. 2019 Jun 17;9(1):8659. (PMID: 31209247)
J Bone Miner Res. 2010 Jul;25(7):1468-86. (PMID: 20533309)
Semin Perinatol. 2015 Apr;39(3):238-51. (PMID: 25979783)
Blood. 2004 Mar 15;103(6):2384-90. (PMID: 14615383)
J Clin Invest. 1985 May;75(5):1608-17. (PMID: 3998150)
Haematologica. 2014 May;99(5):74-5. (PMID: 24633868)
Blood. 2010 Jun 3;115(22):4331-6. (PMID: 20233970)
Blood Cells Mol Dis. 2016 Jan;56(1):9-22. (PMID: 26603718)
Exp Hematol. 2024 Mar;131:104153. (PMID: 38237718)
Blood. 1992 Apr 15;79(8):2154-63. (PMID: 1562742)
Adv Hematol. 2018 Dec 2;2018:6161270. (PMID: 30631363)
Grant Information: P30 CA021765 United States CA NCI NIH HHS; R01 DK111430 United States DK NIDDK NIH HHS; R01 HL156024 United States HL NHLBI NIH HHS; U01 HL163983 United States HL NHLBI NIH HHS
Substance Nomenclature: 0 (beta-Globins)
0 (alpha-Globins)
Entry Date(s): Date Created: 20250827 Date Completed: 20251209 Latest Revision: 20260306
Update Code: 20260306
PubMed Central ID: PMC12745012
DOI: 10.1182/bloodadvances.2025016793
PMID: 40864227
Βάση Δεδομένων: MEDLINE
Περιγραφή
ISSN:2473-9537
DOI:10.1182/bloodadvances.2025016793