Zobrazeno 1 - 10
of 2 339
pro vyhledávání: '"Gene variants"'
Autor:
Mona Fathy, Samar Moemen, Dalia Hamed, Shadia Hussein, Wafaa Ashour, Omar Ashoush, Mona Hegazy, Ahmad Abdelghani, Dalia Abdelfatah, Naglaa El Salawy
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-11 (2024)
Abstract Background As the outbreak of COVID-19 progresses, prognostic markers for the identification of high-risk individuals are urgently needed. The angiotensin system is implicated in the pathogenesis of COVID-19 as ACE2 is the cellular receptor
Externí odkaz:
https://doaj.org/article/566669497d814675881ac60236bf10ba
Autor:
T. A. Ozharovskaia, O. V. Zubkova, O. Popova, A. V. Kovyrshina, P. P. Goldovskaya, I. V. Vavilova, I. V. Dolzhikova, E. I. Ermolova, M. S. Kunda, N. N. Ryzhova, O. L. Voronina, D. N. Shcherbinin, D. V. Shcheblyakov, D. Y. Logunov, A. L. Gintsburg
Publikováno v:
Биопрепараты: Профилактика, диагностика, лечение, Vol 24, Iss 3, Pp 294-311 (2024)
INTRODUCTION. Marburg and Ebola viruses cause severe haemorrhagic fever in humans and primates. Currently, there are no licensed prophylactic vaccines that can simultaneously prevent the spread or reduce the severity of both diseases caused by these
Externí odkaz:
https://doaj.org/article/42d3d9ef80914aaeb81eba3135e5b8a7
Publikováno v:
Гинекология, Vol 26, Iss 3, Pp 249-253 (2024)
Aim. To study the associations of single nucleotide polymorphisms (SNP) of candidate genes associated according to genome-wide association studies (GWAS) with the content of sex hormone binding protein (SHBG) with the occurrence of moderately (G2) an
Externí odkaz:
https://doaj.org/article/8c76f685f7634c8daf3d157500120dca
Publikováno v:
Balkan Journal of Medical Genetics, Vol 27, Iss 1, Pp 59-63 (2024)
The pathogenic variants in the telomerase reverse transcriptase (TERT) gene have been identified in adults with idiopathic pulmonary fibrosis, while their connection to childhood diffuse lung disease has not yet been described. Within this study, we
Externí odkaz:
https://doaj.org/article/1d6423d0963a492ebf38d30578f13827
Autor:
Elena Kondratyeva, Yuliya Melyanovskaya, Victoriya Sherman, Anna Voronkova, Elena Zhekaite, Stanislav Krasovsky, Elena Amelina, Nataliya Kashirskaya, Vera Shadrina, Alexander Polyakov, Tagui Adyan, Olga Sсhagina, Marina Starinova, Elena Enina, Andrey Vasilyev, Andrey Marakhonov, Rena Zinchenko, Sergey Kutsev
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Cystic fibrosis (CF) is a genetically inherited disorder characterized by a wide range of clinical manifestations and genetic variations. This study focuses on the genetic and molecular epidemiology of CF in the Russian population, utilizing data fro
Externí odkaz:
https://doaj.org/article/3de1c0995518492d8d76090a708ea0c4
Publikováno v:
Frontiers in Nephrology, Vol 4 (2024)
Renal hypouricemia (RHUC) is a rare genetic disorder characterized by impaired uric acid reabsorption which leads to persistently low serum uric acid levels. This condition predisposes individuals to complications such as uric acid kidney stones and
Externí odkaz:
https://doaj.org/article/cdac4ee007414b4492000e46c4b1046c
Autor:
Hedyeh Saneifard, Marjan Shakiba, Mohammadreza Alaei, Asieh Mosallanejad, Shirin Ghanefard, Mehrdad Yasaei, Kimia Karimi Toudeshki
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101124- (2024)
Niemann Pick Type C disease is a rare and progressive neurodegenerative lysosomal storage disorder caused by autosomal recessive mutations in the NPC1 and NPC2 genes. It is characterized by the accumulation of multiple lipid species in the endolysoso
Externí odkaz:
https://doaj.org/article/d77ce205b35a4fb19f0cb8bf467c1076
Autor:
Yanxinli Han, Hongyu Sha, Yuan Yang, Zhuowei Yu, Lanqi Zhou, Yi Wang, Fengjie Yang, Liru Qiu, Yu Zhang, Jianhua Zhou
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-8 (2024)
Abstract Background The variants of nucleoporins are extremely rare in hereditary steroid-resistant nephrotic syndrome (SRNS). Most of the patients carrying such variants progress to end stage kidney disease (ESKD) in their childhood. More clinical a
Externí odkaz:
https://doaj.org/article/2811d05cb1414ece8ecd74bc8c6d38ec
Publikováno v:
Journal of Multidisciplinary Healthcare, Vol Volume 17, Pp 1473-1482 (2024)
Jie Jiao,1 Shanfa Yu,2 Guizhen Gu,1 Guoshun Chen,3 Huanling Zhang,3 Yuxin Zheng4 1The Third People’s Hospital of Henan Province (Henan Hospital for Occupational Diseases), Zhengzhou, Henan, People’s Republic of China; 2Henan Medical College, Zhen
Externí odkaz:
https://doaj.org/article/5deee5aabdca420687721dd937e3b879
Autor:
Seyedeh Kosar Mahmoudi, Shadi Tarzemani, Taha Aghajanzadeh, Mohammadreza Kasravi, Behzad Hatami, Mohammad Reza Zali, Kaveh Baghaei
Publikováno v:
European Journal of Medical Research, Vol 29, Iss 1, Pp 1-20 (2024)
Abstract Non-alcoholic fatty liver disease (NAFLD) is one of the leading causes of chronic liver diseases, affecting more than one-quarter of people worldwide. Hepatic steatosis can progress to more severe forms of NAFLD, including NASH and cirrhosis
Externí odkaz:
https://doaj.org/article/42ab7e8a86a94a168ca84cc74c2d3643