Alexander J M Blakes
Overview
Explore the profile of Alexander J M Blakes including associated specialties, affiliations and a list of published articles.
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8
Citations
28
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Recent Articles
1.
Smith T, Kopajtich R, Demain L, Rea A, Thomas H, Schiff M, et al.
Am J Hum Genet
. 2024 Dec;
112(1):59-74.
PMID: 39701103
The mitochondrial ribosome (mitoribosome) synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA, and 82 mitoribosomal...
2.
Smith T, Kopajtich R, Demain L, Rea A, Thomas H, Schiff M, et al.
medRxiv
. 2024 Oct;
PMID: 39371131
The mitoribosome synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA and 82 mitoribosomal proteins encoded...
3.
Lord J, Oquendo C, Wai H, Holloway J, Martin-Geary A, Blakes A, et al.
Genet Med
. 2024 Sep;
26(12):101249.
PMID: 39243181
Purpose: Identifying pathogenic noncoding variants is challenging. A single protein-altering variant is often identified in a recessive gene in individuals with developmental disorders (DD), but the prevalence of pathogenic noncoding...
4.
Tolonen J, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, et al.
Mov Disord
. 2023 Nov;
39(1):141-151.
PMID: 37964426
Background: The ITPR1 gene encodes the inositol 1,4,5-trisphosphate (IP ) receptor type 1 (IP R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense variants in ITPR1 cause congenital...
5.
Martin-Geary A, Blakes A, Dawes R, Findlay S, Lord J, Walker S, et al.
medRxiv
. 2023 Sep;
PMID: 37745552
Background: Both promoters and untranslated regions (UTRs) have critical regulatory roles, yet variants in these regions are largely excluded from clinical genetic testing due to difficulty in interpreting pathogenicity. The...
6.
Blakes A, Wai H, Davies I, Moledina H, Ruiz A, Thomas T, et al.
Genome Med
. 2022 Jul;
14(1):79.
PMID: 35883178
Background: Genomic variants which disrupt splicing are a major cause of rare genetic diseases. However, variants which lie outside of the canonical splice sites are difficult to interpret clinically. Improving...
7.
Blakes A, English J, Banka S, Basu H
Am J Med Genet A
. 2021 Oct;
188(2):595-599.
PMID: 34611970
Pathogenic variants in glutamate receptor, ionotropic, NMDA-1 (GRIN1) cause an autosomal dominant or recessive neurodevelopmental disorder with global developmental delay, with or without seizures (AD or AR GRIN1-NDD). Here, we...
8.
Blakes A, Gaul E, Lam W, Shannon N, Knapp K, Bicknell L, et al.
Eur J Hum Genet
. 2020 Nov;
29(4):593-603.
PMID: 33223528
ABL1 is a proto-oncogene encoding a nonreceptor tyrosine kinase, best known in the somatic BCR-ABL fusion gene associated with chronic myeloid leukaemia. Recently, germline missense variants in ABL1 have been...