Zobrazeno 1 - 10
of 378
pro vyhledávání: '"rare mutation"'
Autor:
Xiaoyue DU, Bo SHEN
Publikováno v:
Zhongliu Fangzhi Yanjiu, Vol 51, Iss 9, Pp 727-736 (2024)
With the development of precision medicine and genetic testing technologies, the treatment mode of non-small cell lung cancer (NSCLC) has shifted from the previous simple model to a complex personalized therapeutic strategy. Precise genetic typing ha
Externí odkaz:
https://doaj.org/article/b2b8e212a8f94cd88e89a5c2f91e23d4
Autor:
Christopher J. Allender, Candice L. Wike, W. Tanner Porter, Dean Ellis, Darrin Lemmer, Stephanie J. K. Pond, David M. Engelthaler
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-7 (2024)
Abstract Background Detecting very minor (
Externí odkaz:
https://doaj.org/article/4278e808bab44eafa0d115ae34326ad2
Publikováno v:
Central European Journal of Immunology, Vol 48, Iss 2, Pp 158-162 (2023)
Steroid resistance is a common condition occurring in children with nephrotic syndrome. Until now, over 50 genes involved in steroid-resistant nephrotic syndrome (SRNS) pathogenesis have been identified, among which the most prevalent are NPHS1, NPHS
Externí odkaz:
https://doaj.org/article/9d94ebe7808a4333b985f6a76cfa6f29
Autor:
Sylvia Cherninkova, Boryana Zaharova, Kunka Kamenarova, Kalina Mihova, Slavena Atemin, Tihomir Todorov, Vasil Haykin, Alexander Oscar, Ivailo Tournev, Radka Kaneva, Albena Todorova
Publikováno v:
Biotechnology & Biotechnological Equipment, Vol 37, Iss 1 (2023)
AbstractLeber’s hereditary optic neuropathy (LHON) is a rare maternally inherited disease caused by mutations in mitochondrial DNA (mtDNA) genes encoding subunits of complex I in the mitochondrial respiratory chain. The most common mutations causin
Externí odkaz:
https://doaj.org/article/4ca00a1855a9411e9a9c632f17e2074f
Autor:
Bin Tang, Jicheng Wang, Danqinq Qin, Cuize Yao, Keyi Chen, Lihua Liang, Huiying Chai, Hao Guo, Li Du
Publikováno v:
Hematology, Vol 28, Iss 1 (2023)
ABSTRACTBackground Hb Chapel Hill [Alpha2 74(EF3) Asp > Gly] results from an GAC > GGC substitution at codon 74 of the HBA1 or HBA2 genes. Hb Chapel Hill has not been reported since 1986.Methods A heterozygous mutation, HBA2: c.224A > G, was identifi
Externí odkaz:
https://doaj.org/article/11f22212c1d4452e9f2e36fc663a3d7b
Publikováno v:
Case Reports in Orthopedic Research, Vol 5, Iss 3, Pp 108-114 (2023)
Osteogenesis imperfecta (OI) refers to a group of genetic disorders with the typical clinical presentation of increased bone fragility. More than 90% of OI cases have an underlying genetic mutation in the collagen genes COL1A1 or COL1A2. However, the
Externí odkaz:
https://doaj.org/article/afc35413a662472f9f6cd78ec38fac87
Publikováno v:
Journal of Personalized Medicine, Vol 13, Iss 9, p 1392 (2023)
Schizophrenia (SCZ) is a complex psychiatric disorder with high heritability; identifying risk genes is essential for deciphering the disorder’s pathogenesis and developing novel treatments. Using whole-exome sequencing, we screened for mutations w
Externí odkaz:
https://doaj.org/article/a97e97c9c789449f91e9fc494cc2b97d
Autor:
L. Ya. Klimov, T. M. Vdovina, V. A. Pechenkina, T. V. Zhelezniakova, I. N. Zakharova, S. V. Dolbnya, V. A. Kuryaninova, A. V. Kastarnov, D. A. Shmalko, R. O. Tsutsaev, Yu. V. Bykov
Publikováno v:
Медицинский совет, Vol 0, Iss 17, Pp 226-234 (2021)
The article presents the modern views of clinicians and geneticists on one of the most severe genetic disorders of skeletal and connective tissues - osteogenesis imperfecta. The review provided the literature data that showed the incidence rates, gen
Externí odkaz:
https://doaj.org/article/5ab01d0da6fa4436ab18cbc8dae454e9
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Akademický článek
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