Genetics Research
rs1043424
Asparagine 521 → Threonine
Gene: PINK1 — PTEN Induced Kinase 1
Chr 1:20650507
1p36.12
Non Coding Transcript Variant
Population Frequencies12
African
A 0.73481C 0.26519AA 0.541757AC/CA 0.386103CC 0.07214pop=66,288
African American
A 0.73469C 0.26531AA 0.541036AC/CA 0.387298CC 0.071665pop=63,992
African Others
A 0.7382C 0.2618AA 0.561847AC/CA 0.352787CC 0.085366pop=2,296
Asian
A 0.65525C 0.34475AA 0.430743AC/CA 0.449018CC 0.120239pop=11,710
East Asian
A 0.637C 0.363AA 0.401449AC/CA 0.471014CC 0.127536pop=8,280
European
A 0.730281C 0.269719AA 0.534234AC/CA 0.392093CC 0.073672pop=517,290
Latin American 1
A 0.74191C 0.25809AA 0.550313AC/CA 0.383199CC 0.066488pop=11,190
Latin American 2
A 0.76128C 0.23872AA 0.579649AC/CA 0.363269CC 0.057082pop=21,758
Other
A 0.72983C 0.27017AA 0.535984AC/CA 0.387682CC 0.076333pop=37,572
Other Asian
A 0.6994C 0.3006AA 0.501458AC/CA 0.395918CC 0.102624pop=3,430
South Asian
A 0.6337C 0.3663AA 0.41225AC/CA 0.442874CC 0.144876pop=8,490
Studies41
Unread Studies41 ▼
1
… N521T (rs1043424), both common. MLPA analysis identified three patients with PRKNCNVs. … Q115L reduces PINK1 kinase activity, while rs3738136 and rs1043424 showed only minor …
2
The occurrence of Parkinson's disease (PD) is influenced by a combination of genetic and environmental factors. Genetic variants of PARK2 (PRKN), PARK6 (PINK1), ZNF746, and their …
3
Neurological disorders are now the leading cause of global disease burden, with Parkinson’s disease (PD) ranked as the 11th most significant contributor to disability and premature …
4
A large body of evidence indicates that women with polycystic ovary syndrome (PCOS) have a higher risk of developing Hashimoto’s thyroiditis (HT) than healthy individuals. Given the …
5
Болезнь Паркинсона–это нейродегенеративное заболевание, лишь в 5% случаев имеющее известную генетическую обусловленность. Анализ клинического экзома пациента …
6
Both polycystic ovary syndrome (PCOS) and Hashimoto’s thyroiditis (HT) are common endocrinopathies, affecting 5-20% of the female population of reproductive age (1, 2), with a …
7
… We found that: (i) the PINK1 rs1043424 C allele is significantly associated with the age of … A replication study in GRN/C9orf72 negative FTLD patients confirmed that the rs1043424 C …
8
Differential antipsychotic treatment outcomes continue to contribute to the global burden of age-related central nervous system (CNS) disorders. Amplifying this problem, a …
9
Early‐onset Parkinson's disease (EOPD) refers to that of patients who have been diagnosed or had onset of motor symptoms before age 50, accounting for 4% of …
10
… Any C allele carriers of PINK1 rs1043424 showed longer mPFS in uni- and multivariable analysis (P adj < .001). No significant interaction was found with gender, tumor location and …
11
Parkinson’s disease (PD) is a common neurodegenerative disorder characterized by bradykinesia, resting tremor, and muscle rigidity. To date, approximately 50 genes have been …
12
Late‐onset Alzheimer's disease ( LOAD ) accounts for 95% of all Alzheimer's cases and is genetically complex in nature. Overlapping clinical and neuropathological features …
13
Autosomal dominant early-onset Alzheimer&# 39; s disease (EOAD) is genetically heterogeneous and has been associated with mutations in 3 different genes, coding for amyloid …
14
Chronic inflammation is implicated in pancreatic cancer carcinogenesis. Advanced glycation end-products (AGEs) can perpetuate inflammation by binding to the receptor for advanced …
15
Late-onset Alzheimer’s disease (LOAD) accounts for 95% of all Alzheimer’s cases and is genetically complex in nature. Overlapping clinical and neuropathological features …
16
To investigate the role of genetic variants of the HSPA9 (mortalin gene) in the risk of Parkinson's disease (PD) and Alzheimer's disease (AD) as well as their genetic …
17
Leprosy is a chronic infectious and neurological disease caused by Mycobacterium leprae, an unculturable pathogen with massive genomic decay and dependence on host metabolism…
18
Parkinson's disease (PD) is a progressive neurological disorder characterised by a large number of motor and non-motor features that can impact on function to a variable …
19
Parkinson disease-15 (PARK15), or parkinsonian-pyramidal syndrome, is caused by mutations in the FBXO7 gene. Although FBXO7 function is implicated in various cellular …
20
to further investigate GCase activity, associated lysosomal and proteasomal factors at baseline and after ambroxol administration in fibroblasts from sporadic PD patients, with …
21
PD is an emerging class of autosomal mitochondrial diseases account for a rapidly growing clinical group. Until recently, it was thought that primary mtDNA mutations were …
22
Szeretettel köszöntjük a 2016. évi helyi Tudományos Diákköri Konferencián, mely jó szokás szerint a négy egészségügyi kar együttes szervezésében valósul meg. Korábbi …
23
Springer-Verlag Berlin Heidelberg 2014 updated Psychiatric Genetics Consortium (PGC) data sets confirmed our …
24
Several association studies have implicated the PARK2 gene that encodes parkin – the key molecule orchestrating the mitochondrial quality control system – as a candidate …
25
Glioblastoma multiforme (GBM) is the most aggressive and malignant subtype of human brain tumors. While a family clustering of GBM has long been acknowledged, relevant …
26
Parkinson's disease (PD) is a severely debilitating neurodegenerative disorder that results in motor circuit dysregulation and ultimately, causes impairment of movement. …
27
… Furthermore, our results are consistent with the recent genome-wide association study (GWAS) on PSP that did not find any associations with SNPs rs1043424, rs662, rs7493 or any …
28
Recent studies delineate substantial genetic components in Parkinson's disease (PD). However, very few studies were performed in Sub-Saharan African populations. Here, we explore …
29
Rare mutations in PARK loci genes cause Parkinson's disease (PD) in some families and isolated populations. We investigated the association of common variants in PARK loci and …
30
Ubiquitin carboxyl-terminal hydrolase L1 (UCHL1; OMIM* 191342) is a gene with nine coding exons, spanning 10kb at chromosome 4p14. The role of the 212 amino acid protein coded …
31
This study investigated genetic causes of Parkinson's disease (PD) and parkinsonism in southern Sweden. The extensive Lister Family with parkinsonism caused by duplications and …
32
… Those SNPs we were able to validate using novel data mining approaches presented in this manuscript are as follows: rs1043424 in PINK1, rs2198622 in CYP4F2 and rs2069456 in …
33
The relative contribution of simple mutations and copy number variations (CNVs) in SNCA, PARK2, PINK1, PARK7, and LRRK2 to the genetic etiology of Parkinson disease (PD) is still …
34
Some minor histocompatibility antigens (mHags) are expressed exclusively on patient hematopoietic and malignant cells, and this unique set of antigens enables specific targeting of …
35
Mutations in five PARK genes (SNCA, PARKIN, DJ-1, PINK1, and LRRK2) are well-established genetic causes of Parkinson disease (PD). Recently, G2385R substitution in LRRK2 has …
36
Mutations in the PINK1 gene have been shown to cause autosomal recessive Parkinson's disease (PD) and/or early onset sporadic PD in Italy, Spain, North America, Ireland, and Asia. …
37
Mutations in the PINK1 gene (PARK6), a putative serine‐threonine kinase, cause autosomal recessive Parkinson's disease. PINK1 functions as a protein kinase and confers protective …
38
… Thr521 is a frequent polymorphism, present in approximately 34 to 39% of control chromosomes (SNP database ID: rs1043424, and data from Valente and colleagues9). …
39
… N521T (rs1043424). MLPA analysis identified 4 patients with PRKN CNVs. Three carriers … Q115L, reduces PINK1 kinase activity, while rs3738136 and rs1043424 showed only minor …
40
Genetic and environmental factors play an important role in the development and progression of Parkinson’s Disease(PD). In this study, it was aimed to evaluate the genetic test results …
41
Parkinson’s disease (PD) is a complex neurodegenerative disorder influenced by both genetic and environmental factors, yet data on PD-associated common variants in …
Curated Studies0 ▼
These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.
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Unused Studies0 ▼
No unused studies.