Sander Pajusalu
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Explore the profile of Sander Pajusalu including associated specialties, affiliations and a list of published articles.
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70
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948
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Recent Articles
11.
Carrington G, Hau A, Kosta S, Dugdale H, Muntoni F, DAmico A, et al.
JCI Insight
. 2023 Oct;
8(21.
PMID: 37788100
Myosin heavy chains encoded by MYH7 and MYH2 are abundant in human skeletal muscle and important for muscle contraction. However, it is unclear how mutations in these genes disrupt myosin...
12.
Lek A, Wong B, Keeler A, Blackwood M, Ma K, Huang S, et al.
N Engl J Med
. 2023 Sep;
389(13):1203-1210.
PMID: 37754285
We treated a 27-year-old patient with Duchenne's muscular dystrophy (DMD) with recombinant adeno-associated virus (rAAV) serotype 9 containing dCas9 (i.e., "dead" Cas9, in which the Cas9 nuclease activity has been...
13.
Roht L, Laidre P, Tooming M, Tonisson N, Noukas M, Nurm M, et al.
Cancers (Basel)
. 2023 Jul;
15(14).
PMID: 37509324
Background: Lynch syndrome (LS) is the most frequent genetically pre-disposed colorectal cancer (CRC) syndrome, accounting for 2-3% of all CRC cases. In Estonia, ~1000 new cases are diagnosed each year....
14.
Ilves N, Pajusalu S, Kahre T, Laugesaar R, Samarina U, Loorits D, et al.
J Child Neurol
. 2023 Jul;
38(6-7):373-388.
PMID: 37427422
Introduction: The aim of this study was to evaluate genetic risk factors in term-born children with antenatal periventricular hemorrhagic infarction (PVHI), presumed antenatal periventricular venous infarction and periventricular hemorrhagic infarction...
15.
Engal E, Oja K, Maroofian R, Geminder O, Le T, Mor E, et al.
medRxiv
. 2023 Jul;
PMID: 37425688
Over two dozen spliceosome proteins are involved in human diseases, also referred to as spliceosomopathies. WBP4 (WW Domain Binding Protein 4) is part of the early spliceosomal complex, and was...
16.
Oja K, Ilisson M, Reinson K, Muru K, Reimand T, Peterson H, et al.
medRxiv
. 2023 Apr;
PMID: 37034709
Introduction: Epilepsy is a common central nervous system disorder characterized by abnormal brain electrical activity. We aimed to compare the metabolic profiles of plasma from patients with epilepsy across different...
17.
Fletcher S, Hall C, Kennedy T, Pajusalu S, Wojcik M, Boora U, et al.
J Clin Invest
. 2023 Feb;
133(7.
PMID: 36795492
Although protein hydroxylation is a relatively poorly characterized posttranslational modification, it has received significant recent attention following seminal work uncovering its role in oxygen sensing and hypoxia biology. Although the...
18.
Tiivoja E, Reinson K, Muru K, Rahn K, Muhu K, Mauring L, et al.
JIMD Rep
. 2022 Nov;
63(6):604-613.
PMID: 36341167
Inherited metabolic disorders (IMD) are a group of hereditary diseases wherein the impairment of a biochemical pathway is intrinsic to the pathophysiology of the disease. Estonia's small population and nationwide...
19.
Janssen B, van den Boogaard M, Lichtenbelt K, Seaby E, Stals K, Ellard S, et al.
Hum Mutat
. 2022 Jul;
43(12):1844-1851.
PMID: 35904126
TATA-binding protein associated factor 4 (TAF4) is a subunit of the Transcription Factor IID (TFIID) complex, a central player in transcription initiation. Other members of this multimeric complex have been...
20.
Mroczek M, Inashkina I, Stavusis J, Zayakin P, Khrunin A, Micule I, et al.
Hum Mutat
. 2022 Jun;
43(10):1347-1353.
PMID: 35731190
The investigated intronic CAPN3 variant NM_000070.3:c.1746-20C>G occurs in the Central and Eastern Europe with a frequency of >1% and there are conflicting interpretations on its pathogenicity. We collected data on...