conserved gene telomeric to alpha globin cluster - PMC

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Select item 114147441.

Understanding fundamental principles of enhancer biology at a model locus: Analysing the structure and function of an enhancer cluster at the α‐globin locus

Mira Kassouf, Seren Ford, Joseph Blayney, Doug Higgs

Bioessays. 2023 Oct; 45(10): 2300047. Published online 2023 Jul 5. doi: 10.1002/bies.202300047

PMCID:: PMC11414744

Abstract Article PDF–3.2M

Select item 109698712.

Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management

Joanne Traeger-Synodinos, Christina Vrettou, Christalena Sofocleous, Matteo Zurlo, Alessia Finotti, Roberto Gambari

Int J Mol Sci. 2024 Mar; 25(6): 3400. Published online 2024 Mar 17. doi: 10.3390/ijms25063400

PMCID:: PMC10969871

Abstract Article PDF–1.3M

Select item 99168003.

Alpha-Thalassemia in Southern Italy: Characterization of Five New Deletions Removing the Alpha-Globin Gene Cluster

Giovanna Cardiero, Gennaro Musollino, Romeo Prezioso, Vincenzo Nigro, Giuseppina Lacerra

Int J Mol Sci. 2023 Feb; 24(3): 2577. Published online 2023 Jan 30. doi: 10.3390/ijms24032577

PMCID:: PMC9916800

Abstract Article PDF–1.4M

Select item 110703864.

Ancestry of the major long-range regulatory site of the α-globin genes in the Portuguese population with the common 3.7 kb α-thalassemia deletion

Rita Pena, Pedro Lopes, Gisela Gaspar, Armandina Miranda, Paula Faustino

Mol Biol Rep. 2024; 51(1): 612. Published online 2024 May 5. doi: 10.1007/s11033-024-09530-5

PMCID:: PMC11070386

Abstract Article PDF–1.8M

Select item 110946745.

Interplay between α‐thalassemia and β‐hemoglobinopathies: Translating genotype–phenotype relationships into therapies

Jim Vadolas, Tiwaporn Nualkaew, Hsiao P. J. Voon, Shahla Vilcassim, George Grigoriadis

Hemasphere. 2024 May; 8(5): e78. Published online 2024 May 15. doi: 10.1002/hem3.78

PMCID:: PMC11094674

Abstract Article PDF–1.6M

Select item 102023036.

Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5’ boundary region

Serena Capasso, Giovanna Cardiero, Gennaro Musollino, Romeo Prezioso, Rosario Testa, Sabrina Dembech, Giulio Piluso, Vincenzo Nigro, F. Anna Digilio, Giuseppina Lacerra

PLoS Genet. 2023 May; 19(5): e1010727. Published online 2023 May 22. doi: 10.1371/journal.pgen.1010727

PMCID:: PMC10202303

Abstract Article PDF–2.6M

Select item 82174977.

A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker

Yavor K. Bozhilov, Damien J. Downes, Jelena Telenius, A. Marieke Oudelaar, Emmanuel N. Olivier, Joanne C. Mountford, Jim R. Hughes, Richard J. Gibbons, Douglas R. Higgs

Nat Commun. 2021; 12: 3806. Published online 2021 Jun 21. doi: 10.1038/s41467-021-23980-6

PMCID:: PMC8217497

Abstract Article PDF–2.1M

Select item 44979698.

α-Globin as a molecular target in the treatment of β-thalassemia

Sachith Mettananda, Richard J. Gibbons, Douglas R. Higgs

Blood. 2015 Jun 11; 125(24): 3694–3701. Prepublished online 2015 Apr 13. doi: 10.1182/blood-2015-03-633594

PMCID:: PMC4497969

Abstract Article

Select item 33059819.

ATRX-mediated chromatin association of histone variant macroH2A1 regulates α-globin expression

Kajan Ratnakumar, Luis F. Duarte, Gary LeRoy, Dan Hasson, Daniel Smeets, Chiara Vardabasso, Clemens Bönisch, Tianying Zeng, Bin Xiang, David Y. Zhang, Haitao Li, Xiaowo Wang, Sandra B. Hake, Lothar Schermelleh, Benjamin A. Garcia, Emily Bernstein

Genes Dev. 2012 Mar 1; 26(5): 433–438. doi: 10.1101/gad.179416.111

PMCID:: PMC3305981

Abstract Article PDF–591K

Select item 315760910.

Development and Clinical Implementation of a Combination Deletion PCR and Multiplex Ligation-Dependent Probe Amplification Assay for Detecting Deletions Involving the Human α-Globin Gene Cluster

Benjamin R. Kipp, Samantha E. Roellinger, Patrick A. Lundquist, W. Edward Highsmith, D. Brian Dawson

J Mol Diagn. 2011 Sep; 13(5): 549–557. doi: 10.1016/j.jmoldx.2011.04.001

PMCID:: PMC3157609

Abstract Article PDF–1.8M

Select item 353004311.

The Molecular Basis of α-Thalassemia

Douglas R. Higgs

Cold Spring Harb Perspect Med. 2013 Jan; 3(1): a011718. doi: 10.1101/cshperspect.a011718

PMCID:: PMC3530043

Abstract Article PDF–706K

Select item 279982912.

Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition

Karen M. Lower, Jim R. Hughes, Marco De Gobbi, Shirley Henderson, Vip Viprakasit, Chris Fisher, Anne Goriely, Helena Ayyub, Jackie Sloane-Stanley, Douglas Vernimmen, Cordelia Langford, David Garrick, Richard J. Gibbons, Douglas R. Higgs

Proc Natl Acad Sci U S A. 2009 Dec 22; 106(51): 21771–21776. Published online 2009 Dec 3. doi: 10.1073/pnas.0909331106

PMCID:: PMC2799829

Abstract Article PDF–667K

Select item 852536513.

A Small Key for a Heavy Door: Genetic Therapies for the Treatment of Hemoglobinopathies

Hidde A. Zittersteijn, Cornelis L. Harteveld, Stefanie Klaver-Flores, Arjan C. Lankester, Rob C. Hoeben, Frank J. T. Staal, Manuel A. F. V. Gonçalves

Front Genome Ed. 2020; 2: 617780. Published online 2021 Feb 4. doi: 10.3389/fgeed.2020.617780

PMCID:: PMC8525365

Abstract Article PDF–3.7M

Select item 920381214.

The chromatin remodeller ATRX facilitates diverse nuclear processes, in a stochastic manner, in both heterochromatin and euchromatin

Julia Truch, Damien J. Downes, Caroline Scott, E. Ravza Gür, Jelena M. Telenius, Emmanouela Repapi, Ron Schwessinger, Matthew Gosden, Jill M. Brown, Stephen Taylor, Pak Leng Cheong, Jim R. Hughes, Douglas R. Higgs, Richard J. Gibbons

Nat Commun. 2022; 13: 3485. Published online 2022 Jun 17. doi: 10.1038/s41467-022-31194-7

PMCID:: PMC9203812

Abstract Article PDF–4.3M

Select item 647512815.

Fine-Scale Characterization of Genomic Structural Variation in the Human Genome Reveals Adaptive and Biomedically Relevant Hotspots

Yen-Lung Lin, Omer Gokcumen

Genome Biol Evol. 2019 Apr; 11(4): 1136–1151. Published online 2019 Mar 18. doi: 10.1093/gbe/evz058

PMCID:: PMC6475128

Abstract Article PDF–780K

Select item 5977716.

Identification of a conserved erythroid specific domain of histone acetylation across the α-globin gene cluster

Eduardo Anguita, Colin A. Johnson, William G. Wood, Bryan M. Turner, Douglas R. Higgs

Proc Natl Acad Sci U S A. 2001 Oct 9; 98(21): 12114–12119. Published online 2001 Oct 2. doi: 10.1073/pnas.201413098

PMCID:: PMC59777

Abstract Article PDF–232K

Select item 257280617.

The role of the polycomb complex in silencing α-globin gene expression in nonerythroid cells

David Garrick, Marco De Gobbi, Vasiliki Samara, Michelle Rugless, Michelle Holland, Helena Ayyub, Karen Lower, Jackie Sloane-Stanley, Nicki Gray, Christoph Koch, Ian Dunham, Douglas R. Higgs

Blood. 2008 Nov 1; 112(9): 3889–3899. Prepublished online 2008 Aug 8. doi: 10.1182/blood-2008-06-161901

PMCID:: PMC2572806

Abstract Article

Select item 927714818.

Limitations of mouse models for sickle cell disease conferred by their human globin transgene configurations

Kaitly J. Woodard, Phillip A. Doerfler, Kalin D. Mayberry, Akshay Sharma, Rachel Levine, Jonathan Yen, Virginia Valentine, Lance E. Palmer, Marc Valentine, Mitchell J. Weiss

Dis Model Mech. 2022 Jun 1; 15(6): dmm049463. Published online 2022 Jul 7. doi: 10.1242/dmm.049463