Bruce R Conklin
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Explore the profile of Bruce R Conklin including associated specialties, affiliations and a list of published articles.
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127
Citations
9372
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Recent Articles
1.
Dua P, Simon B, Marley C, Feliciano C, Watry H, Steury D, et al.
bioRxiv
. 2025 Jan;
PMID: 39763989
Inactivation of disease alleles by allele-specific editing is a promising approach to treat dominant-negative genetic disorders, provided the causative gene is haplo-sufficient. We previously edited a dominant missense mutation with...
2.
Chu S, Soupene E, Sharma D, Sinha R, McCreary T, Hernandez B, et al.
Cell Rep
. 2025 Jan;
44(1):115141.
PMID: 39754719
The most severe form of α-thalassemia results from loss of all four copies of α-globin. Postnatally, patients face challenges similar to β-thalassemia, including severe anemia and erythrotoxicity due to the...
3.
Filippi K, Risse I, Judge L, Conklin B, Fleischmann B, Hesse M
Stem Cell Res
. 2024 Dec;
82():103626.
PMID: 39662461
BAG3 is a central component of the chaperone-assisted selective autophagy complex and thus important for proteostasis. This function is affected by a point mutation (p.P209L; c.626C>T) in the BAG3 gene,...
4.
Xu D, Besselink S, Ramadoss G, Dierks P, Lubin J, Pattali R, et al.
bioRxiv
. 2024 Dec;
PMID: 39651312
Programmable epigenome editors modify gene expression in mammalian cells by altering the local chromatin environment at target loci without inducing DNA breaks. However, the large size of CRISPR-based epigenome editors...
5.
Perez-Bermejo J, Judge L, Jensen C, Wu K, Watry H, Truong A, et al.
Nat Cardiovasc Res
. 2024 Aug;
2(7):615-628.
PMID: 39195919
Multiple genetic association studies have correlated a common allelic block linked to the BAG3 gene with a decreased incidence of heart failure, but the molecular mechanism remains elusive. In this...
6.
Ramadoss G, Namaganda S, Hamilton J, Sharma R, Chow K, Macklin B, et al.
bioRxiv
. 2024 Jul;
PMID: 38979269
Genome editing is poised to revolutionize treatment of genetic diseases, but poor understanding and control of DNA repair outcomes hinders its therapeutic potential. DNA repair is especially understudied in nondividing...
7.
Yeh L, Ivanov I, Chandler T, Byrum J, Chhun B, Guo S, et al.
Nat Methods
. 2024 Jun;
21(7):1257-1274.
PMID: 38890427
The dry mass and the orientation of biomolecules can be imaged without a label by measuring their permittivity tensor (PT), which describes how biomolecules affect the phase and polarization of...
8.
Chu S, Soupene E, Wienert B, Yin H, Sharma D, McCreary T, et al.
bioRxiv
. 2024 May;
PMID: 38766216
Alpha-thalassemia is an autosomal recessive disease with increasing worldwide prevalence. The molecular basis is due to mutation or deletion of one or more duplicated α-globin genes, and disease severity is...
9.
Sachdev A, Gill K, Sckaff M, Birk A, Aladesuyi Arogundade O, Brown K, et al.
Proc Natl Acad Sci U S A
. 2024 Apr;
121(17):e2307814121.
PMID: 38621131
Efforts to genetically reverse C9orf72 pathology have been hampered by our incomplete understanding of the regulation of this complex locus. We generated five different genomic excisions at the locus in...
10.
Perez-Bermejo J, Reisman S, Ma J, Carrison-Stone D, Cerrito C, Ribeiro A, et al.
Stem Cell Reports
. 2024 Feb;
19(3):426-433.
PMID: 38335963
Science museums play an important role in science education, engaging the public with science concepts and building support for scientific research. Here, we describe Give Heart Cells a Beat, an...