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Author Akbota Aitkulova

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Association of polymorphisms in TP53 and the promoter region of IL10 with gastric cancer in a Kazakh population.

Gulmira Kulmambetova, Ivan Shtefanov, Akbota Aitkulova, Meruyert Imanbekova, Aisha Iskakova, Abay Makishev, Yerlan Ramankulov,

The emerging evidence indicates that single nucleotide polymorphisms (SNPs) of the tumor necrosis factor (TNF), interleukin 10 (IL10), tumor protein p53 (TP53), and cluster of differentiation 14 (CD14) genes may determine individual susceptibility to gastric cancer (GC). We aimed to investigate the associations for polymorphisms of the TNF, IL10, TP53, ... Read more >>

Bosn J Basic Med Sci (Bosnian journal of basic medical sciences)
[2020, 20(4):539-546]

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Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders.

Niccolò E Mencacci, Regina Reynolds, Sonia Garcia Ruiz, Jana Vandrovcova, Paola Forabosco, Alvaro Sánchez-Ferrer, Viola Volpato, , , Michael E Weale, Kailash P Bhatia, Caleb Webber, John Hardy, Juan A Botía, Mina Ryten,

Dystonia is a neurological disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures, often occurring in absence of any structural brain abnormality. Psychiatric comorbidities, including anxiety, depression, obsessive-compulsive disorder and schizophrenia, are frequent in patients with dystonia. While mutations in a fast-growing number of genes have ... Read more >>

Brain (Brain : a journal of neurology)
[2020, 143(9):2771-2787]

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LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson's Disease Cohort from Kazakhstan.

Rauan Kaiyrzhanov, Akbota Aitkulova, Chingiz Shashkin, Nazira Zharkinbekova, Mie Rizig, Elena Zholdybayeva, Zharkyn Jarmukhanov, Vadim Akhmetzhanov, Gulnaz Kaishibayeva, Talgat Khaibullin, Altynay Karimova, Serik Akshulakov, Askhat Bralov, Nurlan Kissamedenov, Zhanar Seidinova, Anjela Taskinbayeva, Aliya Muratbaikyzy, Henry Houlden,

Background:LRRK2 mutations have emerged as the most prevalent and potentially treatable determinants of Parkinson's disease (PD). Peculiar geographic distribution of these mutations has triggered an interest in genotyping PD cohorts of different ethnic backgrounds for LRRK. Objective:Here, we report on the results of LRRK2 screening in the first Central Asian ... Read more >>

Parkinsons Dis (Parkinson's disease)
[2020, 2020:2763838]

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Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score.

Hirotaka Iwaki, Cornelis Blauwendraat, Mary B Makarious, Sara Bandrés-Ciga, Hampton L Leonard, J Raphael Gibbs, Dena G Hernandez, Sonja W Scholz, Faraz Faghri, , Mike A Nalls, Andrew B Singleton,

BACKGROUND:Although the leucine-rich repeat kinase 2 p.G2019S mutation has been demonstrated to be a strong risk factor for PD, factors that contribute to penetrance among carriers, other than aging, have not been well identified. OBJECTIVES:To evaluate whether a cumulative genetic risk identified in the recent genome-wide study is associated with ... Read more >>

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2020, 35(5):774-780]

Cited: 3 times

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Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.

Mike A Nalls, Cornelis Blauwendraat, Costanza L Vallerga, Karl Heilbron, Sara Bandres-Ciga, Diana Chang, Manuela Tan, Demis A Kia, Alastair J Noyce, Angli Xue, Jose Bras, Emily Young, Rainer von Coelln, Javier Simón-Sánchez, Claudia Schulte, Manu Sharma, Lynne Krohn, Lasse Pihlstrøm, Ari Siitonen, Hirotaka Iwaki, Hampton Leonard, Faraz Faghri, J Raphael Gibbs, Dena G Hernandez, Sonja W Scholz, Juan A Botia, Maria Martinez, Jean-Christophe Corvol, Suzanne Lesage, Joseph Jankovic, Lisa M Shulman, Margaret Sutherland, Pentti Tienari, Kari Majamaa, Mathias Toft, Ole A Andreassen, Tushar Bangale, Alexis Brice, Jian Yang, Ziv Gan-Or, Thomas Gasser, Peter Heutink, Joshua M Shulman, Nicholas W Wood, David A Hinds, John A Hardy, Huw R Morris, Jacob Gratten, Peter M Visscher, Robert R Graham, Andrew B Singleton, , , ,

BACKGROUND:Genome-wide association studies (GWAS) in Parkinson's disease have increased the scope of biological knowledge about the disease over the past decade. We aimed to use the largest aggregate of GWAS data to identify novel risk loci and gain further insight into the causes of Parkinson's disease. METHODS:We did a meta-analysis ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2019, 18(12):1091-1102]

Cited: 29 times

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Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's disease.

Hampton Leonard, Cornelis Blauwendraat, Lynne Krohn, Faraz Faghri, Hirotaka Iwaki, Glen Ferguson, Aaron G Day-Williams, David J Stone, Andrew B Singleton, Mike A Nalls, Ziv Gan-Or, ,

BACKGROUND:Classical randomisation of clinical trial patients creates a source of genetic variance that may be contributing to the high failure rate seen in neurodegenerative disease trials. Our objective was to quantify genetic difference between randomised trial arms and determine how imbalance can affect trial outcomes. METHODS:5851 patients with Parkinson's disease ... Read more >>

J Med Genet (Journal of medical genetics)
[2020, 57(5):331-338]

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Parkinson's Disease in Central Asian and Transcaucasian Countries: A Review of Epidemiology, Genetics, Clinical Characteristics, and Access to Care.

Rauan Kaiyrzhanov, Mie Rizig, Akbota Aitkulova, Nazira Zharkinbekova, Chingiz Shashkin, Gulnaz Kaishibayeva, Altynay Karimova, Talgat Khaibullin, Dinara Sadykova, Manizha Ganieva, Khurshidakhon Rasulova, Henry Houlden,

Our understanding of Parkinson's disease (PD) has significantly accelerated over the last few years, but predominant advances have been made in developed, Western countries. Little is known about PD in the Central Asian (CA) and Transcaucasian (TC) countries. Here, we review the clinical characteristics, treatments used, epidemiology, and genetics of ... Read more >>

(Parkinson's disease)
[2019, 2019:2905739]

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Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.

Cornelis Blauwendraat, Xylena Reed, Demis A Kia, Ziv Gan-Or, Suzanne Lesage, Lasse Pihlstrøm, Rita Guerreiro, J Raphael Gibbs, Marya Sabir, Sarah Ahmed, Jinhui Ding, Roy N Alcalay, Sharon Hassin-Baer, Alan M Pittman, Janet Brooks, Connor Edsall, Dena G Hernandez, Sun Ju Chung, Stefano Goldwurm, Mathias Toft, Claudia Schulte, Jose Bras, Nicholas W Wood, Alexis Brice, Huw R Morris, Sonja W Scholz, Mike A Nalls, Andrew B Singleton, Mark R Cookson, ,

Importance:Pathogenic variants in LRRK2 are a relatively common genetic cause of Parkinson disease (PD). Currently, the molecular mechanism underlying disease is unknown, and gain and loss of function (LOF) models of pathogenesis have been postulated. LRRK2 variants are reported to result in enhanced phosphorylation of substrates and increased cell death. ... Read more >>

JAMA Neurol (JAMA neurology)
[2018, 75(11):1416-1422]

Cited: 9 times

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Genetic Risk Factors for Intracranial Aneurysm in the Kazakh Population.

Elena V Zholdybayeva, Yerkin Z Medetov, Akbota M Aitkulova, Yerbol T Makhambetov, Serik K Akshulakov, Assylbek B Kaliyev, Yerkebulan A Talzhanov, Gulmira N Kulmambetova, Aisha N Iskakova, Yerlan M Ramankulov,

An intracranial aneurysm (IA) is a weak or thin area on a blood vessel in the brain that balloons as it fills with blood. Genetic factors can influence the risk of developing an aneurism. The purpose of this study was to explore the relationship between single nucleotide polymorphisms (SNPs) and ... Read more >>

J. Mol. Neurosci. (Journal of molecular neuroscience : MN)
[2018, 66(1):135-145]

Cited: 3 times

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Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population.

Elena V Zholdybayeva, Yerkebulan A Talzhanov, Akbota M Aitkulova, Pavel V Tarlykov, Gulmira N Kulmambetova, Aisha N Iskakova, Aliya U Dzholdasbekova, Olga A Visternichan, Dana Zh Taizhanova, Yerlan M Ramanculov,

After coronary stenting, the risk of developing restenosis is from 20 to 35 %. The aim of the present study is to investigate the association of genetic variation in candidate genes in patients diagnosed with restenosis in the Kazakh population.Four hundred fifty-nine patients were recruited to the study; 91 patients were ... Read more >>

Hum. Genomics (Human genomics)
[2016, 10(1):15]

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Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan.

Aisha N Iskakova, Aliya A Romanova, Akbota M Aitkulova, Nurgul S Sikhayeva, Elena V Zholdybayeva, Erlan M Ramanculov,

Studies of genes involved in the absorption, distribution, metabolism, and excretion (ADME) of drugs are crucial to the development of therapeutics in clinical medicine. Such data provide information that may improve our understanding of individual differences in sensitivity or resistance to certain drugs, thereby helping to avoid adverse drug reactions ... Read more >>

BMC Genet. (BMC genetics)
[2016, 17:23]

Cited: 3 times

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Collagen Type I alpha1 (COL1A1) Gene Polymorphism and Bone Mineral Density in Postmenopausal Kazakh Women.

Akbota Aitkulova, Ainur Akilzhanova, Zhannur Abilova, Zaida Zhumatova, Gulbanu Akilzhanova, Elena Zholdybayeva,

Introduction:Single nucleotide polymorphism (SNP) at the collagen type I alpha 1 gene (COL1A1) rs1800012 has been widely studied and has shown an association with bone mineral density (BMD) and fractures. A minor allele TT of this SNP was found to be greatly overrepresented in individuals with fractures compared to controls, ... Read more >>

(Central Asian journal of global health)
[2014, 3(Suppl):144]

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Estrogen Receptor Gene (ESR1) PVUII and XBAI Polymorphisms and Bone Mineral Density in Kazakh Women.

Ainur Akilzhanova, Zhannur Abilova, Akbota Aitkulova, Zaida Zhumatova, Gulbanu Akilzhanova, Elena Zholdybayeva, Kuvat Momynaliev,

Introduction:Osteoporosis is a common age-related disease that is strongly influenced by genetics. Polymorphisms of the estrogen receptor gene alpha (ESR1) are consistently been associated with bone mineral density (BMD) and fracture.The purpose of this investigation was to evaluate potential association of single nucleotide polymorphism (SNP) variants of the ESR1 gene ... Read more >>

(Central Asian journal of global health)
[2013, 2(Suppl):100]

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