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Gulten Tuncel
Rare Disease Research Group, DESAM Institue, Near East University, Nicosia 99138, Cyprus

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Journal article
Published: 21 June 2021 in Genes
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Joubert syndrome (OMIM #213300) is a rare neurodevelopmental disease characterized by abnormal breathing patterns, intellectual impairment, ocular findings, renal cysts, and hepatic fibrosis. It is classified as a ciliopathy disease, where cilia function or structure in various organs are affected. Here, we report a 17-year-old male whose main clinical findings are oculomotor apraxia and truncal ataxia. Magnetic resonance imaging revealed the characteristic molar tooth sign of Joubert syndrome. He also has obsessive–compulsive disorder concomitantly, which is not a known feature of Joubert syndrome. Molecular genetic analysis revealed a homozygous c.2106G>A (p.(Thr702=)) variation in the Abelson helper integration 1 (AHI1) gene and another homozygous c.1739C>T (p.Thr580Ile) variation in the coiled-coil and C2 domain-containing protein 1A (CC2D1A) gene. Even though certain AHI1 variations were previously associated with Joubert syndrome (JS), c.2106G>A (p.(Thr702=)) was only reported in one patient in trans with another known pathogenic JS variant. The CC2D1A c.1739C>T (p.Thr580Ile) variation, on the other hand, has been reported to cause autosomal recessive nonsyndromic mental retardation, but there are conflicting interpretations about its pathogenicity. Overall, to our knowledge, this is the first patient representing a severe ciliopathy phenotype caused by a homozygous synonymous AHI1 variation. Further investigations should be performed to determine any involvement of the CC2D1A gene in ciliopathy phenotypes such as Joubert syndrome.

ACS Style

Gulten Tuncel; Bahar Kaymakamzade; Yeliz Engindereli; Sehime Temel; Mahmut Ergoren. A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype. Genes 2021, 12, 945 .

AMA Style

Gulten Tuncel, Bahar Kaymakamzade, Yeliz Engindereli, Sehime Temel, Mahmut Ergoren. A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype. Genes. 2021; 12 (6):945.

Chicago/Turabian Style

Gulten Tuncel; Bahar Kaymakamzade; Yeliz Engindereli; Sehime Temel; Mahmut Ergoren. 2021. "A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype." Genes 12, no. 6: 945.

Journal article
Published: 09 November 2020
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Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is responsible for the current pandemics of coronavirus disease. This virus is able to attack the cells of the airway epithelium by binding to the transmembrane angiotensin I converting enzyme 2 (ACE2). In the current study, we experimented a food supplement containing alpha-cyclodextrin and hydroxytyrosol as active compounds for the improvement of the defenses against the SARS-CoV-2. Hydroxytyrosol has anti-viral properties and is able to reduce the serum lipids in mice fed with high-cholesterol diet, and α-cyclodextrin has the ability to deplete sphingolipids and phospholipids from the cellular membranes. The aim of the present preliminary open non-controlled interventional study was to evaluate the efficacy of alpha-cyclodextrin and hydroxytyrosol in improving defenses against SARS-CoV-2. Fifty healthy volunteers at a higher risk of SARS-CoV-2 infection from Northern Cyprus and six positive individuals for SARS-CoV-2 by RT-qPCR assay were enrolled in this study. The in silico prediction analysis was performed using the bioinformatic tool D3DOCKING to evaluate the interactions of hydroxytyrosol and alpha-cyclodextrin with proteins involved in the biological cycle of SARS-CoV-2 in the humans. The 50 volunteers did not become positive in 15 days for SARS-CoV-2 RT-qPCR assay after the administration of the compound for two weeks, despite they were at higher risk of infection than the general population. Interestingly, in the cohort of six positive patients, two patients were administered with the spray and became negative after five days of spray administration, despite the viral load was higher in the treated subjects than the patients that did not take the compound and that became negative after ten days. In addition, we have identified the presence of possible direct interactions among hydroxytyrosol and alpha-cyclodextrin with the viral protein Spike and the human proteins ACE2 and TMPRSS2. We preliminary reported on the results of the possible role of alpha-cyclodextrin and hydroxytyrosol in improving defenses against SARS-CoV-2. The next step would be the administration of the compound on a larger cohort in a controlled study and see whether there is a reduced infection rate of SARS-CoV-2 in the treated subjects than in the non-treated individuals. (www.actabiomedica.it)

ACS Style

Mahmut Cerkez Ergoren; Stefano Paolacci; Elena Manara; Astrit Dautaj; Kristjana Dhuli; Kyrylo Anpilogov; Giorgio Camilleri; Huseyin Kaya Suer; Murat Sayan; Gulten Tuncel; Nazife Sultanoglu; Marco Farronato; Gianluca Martino Tartaglia; Munis Dundar; Giampietro Farronato; Irfan Suat Gunsel; Matteo Bertelli; Tamer Sanlidag. A pilot study on the preventative potential of alpha-cyclodextrin and hydroxytyrosol against SARS-CoV-2 transmission. 2020, 91, e2020022 .

AMA Style

Mahmut Cerkez Ergoren, Stefano Paolacci, Elena Manara, Astrit Dautaj, Kristjana Dhuli, Kyrylo Anpilogov, Giorgio Camilleri, Huseyin Kaya Suer, Murat Sayan, Gulten Tuncel, Nazife Sultanoglu, Marco Farronato, Gianluca Martino Tartaglia, Munis Dundar, Giampietro Farronato, Irfan Suat Gunsel, Matteo Bertelli, Tamer Sanlidag. A pilot study on the preventative potential of alpha-cyclodextrin and hydroxytyrosol against SARS-CoV-2 transmission. . 2020; 91 (Suppl 13):e2020022.

Chicago/Turabian Style

Mahmut Cerkez Ergoren; Stefano Paolacci; Elena Manara; Astrit Dautaj; Kristjana Dhuli; Kyrylo Anpilogov; Giorgio Camilleri; Huseyin Kaya Suer; Murat Sayan; Gulten Tuncel; Nazife Sultanoglu; Marco Farronato; Gianluca Martino Tartaglia; Munis Dundar; Giampietro Farronato; Irfan Suat Gunsel; Matteo Bertelli; Tamer Sanlidag. 2020. "A pilot study on the preventative potential of alpha-cyclodextrin and hydroxytyrosol against SARS-CoV-2 transmission." 91, no. Suppl 13: e2020022.