Birute Burnyte
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Explore the profile of Birute Burnyte including associated specialties, affiliations and a list of published articles.
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Articles
41
Citations
171
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Recent Articles
1.
Valancius D, Burnyte B, Masaitiene R, Morkuniene A, Klimasauskiene A
Neurol Genet
. 2024 Nov;
10(6):e200217.
PMID: 39611137
Objectives: To describe a novel familial variant of superoxide dismutase 1 (SOD1)-associated amyotrophic lateral sclerosis (ALS) in a Lithuanian family, highlighting its variable progression and implications for treatment inclusion criteria....
2.
Mackay D, Gazdagh G, Monk D, Brioude F, Giabicani E, Krzyzewska I, et al.
Clin Epigenetics
. 2024 Aug;
16(1):99.
PMID: 39090763
Background: Imprinting disorders are rare diseases resulting from altered expression of imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated through differential DNA methylation. A subgroup of patients with imprinting disorders...
3.
Wilson M, Kentache T, Althoff C, Schulz C, de Bettignies G, Cabrera G, et al.
Cell
. 2024 Jun;
187(14):3784.
PMID: 38870945
No abstract available.
4.
Wilson M, Kentache T, Althoff C, Schulz C, de Bettignies G, Cabrera G, et al.
Cell
. 2024 May;
187(14):3585-3601.e22.
PMID: 38821050
Dolichol is a lipid critical for N-glycosylation as a carrier for activated sugars and nascent oligosaccharides. It is commonly thought to be directly produced from polyprenol by the enzyme SRD5A3....
5.
Lan M, Lin T, Lace B, Utkus A, Burnyte B, Grigalioniene K, et al.
Cells
. 2024 Apr;
13(8.
PMID: 38667309
Variants of mitochondrial DNA (mtDNA) have been identified as risk factors for the development of Parkinson's disease (PD). However, the underlying pathogenetic mechanisms remain unclear. Cybrid models carrying various genotypes...
6.
Altunoglu U, Palencia-Campos A, Gunes N, Turgut G, Nevado J, Lapunzina P, et al.
J Med Genet
. 2024 Mar;
61(7):633-644.
PMID: 38531627
Background: Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in or ....
7.
Jokubaitis M, Lengvenis G, Burnyte B, Audronyte E, Ryliskiene K
Front Neurol
. 2024 Feb;
15:1359994.
PMID: 38405404
This case study describes a 57-year-old woman with a six-year history of recurrent episodes characterized by visual, sensory, speech disturbances, hemiparesis and severe one-sided headaches accompanied by fever and altered...
8.
Asadauskaite G, Vilimiene R, Augustinavicius V, Burnyte B
Front Neurol
. 2023 Dec;
14:1290960.
PMID: 38146440
Background: Missense gene variants lead to a disruption in protein homeostasis causing a spectrum of progressive degenerative diseases. Myopathy is the most frequent manifestation characterized by slowly progressing weakness of...
9.
Lenz D, Schlieben L, Shimura M, Bianzano A, Smirnov D, Kopajtich R, et al.
Hepatology
. 2023 Nov;
79(5):1075-1087.
PMID: 37976411
Background And Aims: Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, the main causes are viral infections (12%-16%) and inherited metabolic diseases (14%-28%). Yet, in up to...
10.
Kemezyte A, Gegieckiene R, Burnyte B
BMC Pediatr
. 2023 Oct;
23(1):539.
PMID: 37891508
Background: Marfan syndrome is a genetic connective tissue disorder affecting skeletal, ocular, and cardiovascular organ systems. Previous research found that pathogenic variants clustered in exons 24-32 of fibrillin-1 (FBN1) gene...