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Derek J Blake

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Articles 58
Citations 2685
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Recent Articles
1.
Nakagawa T, Honda T, Yuasa T, Nishiuchi G, Sato M, Tokunaga A, et al.
Invest Ophthalmol Vis Sci . 2025 Mar; 66(3):16. PMID: 40048186
Purpose: Fuchs endothelial corneal dystrophy (FECD) is a progressive corneal disorder characterized by excessive extracellular matrix (ECM) accumulation and corneal endothelial cell death. CTG trinucleotide repeat expansion in the transcription...
2.
Howard L, Ishikawa Y, Katayama T, Park S, Hill M, Blake D, et al.
Commun Biol . 2024 Nov; 7(1):1495. PMID: 39532995
The generation of a self-formed, ectodermal, autonomous multi-zone (SEAM) from human induced pluripotent stem cells (hiPSCs) offers a unique perspective to study the dynamics of ocular cell differentiation over time....
3.
Esapa C, McIlhinney R, Waite A, Benson M, Mirzayan J, Piko H, et al.
Front Mol Biosci . 2024 Jan; 10:1279700. PMID: 38161385
Fukutin-related protein (FKRP, MIM ID 606596) variants cause a range of muscular dystrophies associated with hypo-glycosylation of the matrix receptor, α-dystroglycan. These disorders are almost exclusively caused by homozygous or...
4.
Stathopoulou K, Schnittger J, Raabe J, Fleischer F, Mangels N, Piasecki A, et al.
FEBS J . 2022 Feb; 289(15):4622-4645. PMID: 35176204
Four-and-a-half LIM domains protein 2 (FHL2) is an anti-hypertrophic adaptor protein that regulates cardiac myocyte signalling and function. Herein, we identified cardiomyopathy-associated 5 (CMYA5) as a novel FHL2 interaction partner...
5.
Sanders B, DAndrea D, Collins M, Rees E, Steward T, Zhu Y, et al.
Nat Commun . 2022 Jan; 13(1):27. PMID: 35031607
Coordinated programs of gene expression drive brain development. It is unclear which transcriptional programs, in which cell-types, are affected in neuropsychiatric disorders such as schizophrenia. Here we integrate human genetics...
6.
Nurm K, Sepp M, Castany-Pladevall C, Creus-Muncunill J, Tuvikene J, Sirp A, et al.
eNeuro . 2021 Sep; 8(5). PMID: 34518368
Huntington's disease (HD) is an inherited neurodegenerative disorder with onset of characteristic motor symptoms at midlife, preceded by subtle cognitive and behavioral disturbances. Transcriptional dysregulation emerges early in the disease...
7.
Cameron D, Blake D, Bray N, Hill M
Mol Neuropsychiatry . 2019 Jun; 5(2):109-114. PMID: 31192223
Loss of function mutations in are the first experiment-wide significant findings to emerge from exome sequencing studies of schizophrenia. Although is known to encode a histone methyltransferase, the consequences of...
8.
Lamb R, Rohrer J, Real R, Lubbe S, Waite A, Blake D, et al.
Cold Spring Harb Mol Case Stud . 2019 Jun; 5(3). PMID: 31160356
Mutations in the TANK-binding kinase 1 () gene have recently been shown to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The phenotype is highly variable and has been...
9.
Okumura N, Hayashi R, Nakano M, Yoshii K, Tashiro K, Sato T, et al.
Invest Ophthalmol Vis Sci . 2019 Feb; 60(2):779-786. PMID: 30811544
Purpose: CTG trinucleotide repeat (TNR) expansion is frequently found in transcription factor 4 (TCF4) in Fuchs' endothelial corneal dystrophy (FECD), though the effect of TNR expansion on FECD pathophysiology remains...
10.
Chapman R, Tinsley C, Hill M, Forrest M, Tansey K, Pardinas A, et al.
Schizophr Bull . 2019 Jan; 45(6):1267-1278. PMID: 30597088
Genome-wide association studies have linked common variation in ZNF804A with an increased risk of schizophrenia. However, little is known about the biology of ZNF804A and its role in schizophrenia. Here,...