Zobrazeno 1 - 10
of 229
pro vyhledávání: '"Hemizygous"'
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-7 (2023)
Abstract Background Sandhoff disease (SD) is a rare neurological disease with high clinical heterogeneity. SD in juvenile form is much rarer and it is often misdiagnosed in clinics. Therein, it is necessary to provide more cases and review the litera
Externí odkaz:
https://doaj.org/article/670e69ae02824337a9f14ab53db2a456
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
The neurological complications of coronavirus disease 2019 (COVID-19) can range from simple tremors and dystonia to features of encephalopathy. Toll-like receptor 7 (TLR7) belongs to a family of innate immune receptors responsible for viral RNA detec
Externí odkaz:
https://doaj.org/article/e7764d1fcc2f43a6a98f9c92704c992b
Autor:
Irina A. Leneva, Daria I. Smirnova, Nadezhda P. Kartashova, Anastasiia V. Gracheva, Anna V. Ivanina, Ekaterina A. Glubokova, Ekaterina R. Korchevaya, Andrey A. Pancratov, Galina V. Trunova, Varvara A. Khokhlova, Oksana A. Svitich, Vitaly V. Zverev, Evgeny B. Faizuloev
Publikováno v:
Вопросы вирусологии, Vol 67, Iss 5, Pp 439-449 (2022)
Introduction. The variability of SARS-CoV-2 appeared to be higher than expected, the emergence of new variants raises concerns. The aim of the work was to compare the pathogenicity of the Wuhan and BA.1.1/Omicron variants in BALB/c mice and Syrian
Externí odkaz:
https://doaj.org/article/a4755c02985b4bf8808db15e4200e28d
Autor:
Mohan Liu, Siyu Dai, Jiying Zhang, Yihong Yang, Ying Shen, Hongqian Liu, Yanting Yang, Chuan Jiang, Erpo Tian
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionA previous study suggested that loss of CFAP47 function is involved in multiple morphological abnormalities of the sperm flagella (MMAF) in humans and mice. However, the comprehensive role of CFAP47 in spermatogenesis is largely unknown.M
Externí odkaz:
https://doaj.org/article/c0e7bddf999a428886aaa53e076a053a
Autor:
Haowei Bai, Yanwei Sha, Yueqiu Tan, Peng Li, Yuxiang Zhang, Junwei Xu, Shuai Xu, Zhiyong Ji, Xiaobo Wang, Wei Chen, Jianxiong Zhang, Chencheng Yao, Zheng Li, Erlei Zhi
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2023)
IntroductionOligoasthenoteratozoospermia (OAT) is a major cause of infertility in males. Only a few pathogenic genes of OAT have been clearly identified till now. A large number of OAT-affected cases remain largely unknown.MethodsHere, Whole-exome se
Externí odkaz:
https://doaj.org/article/5376b7806d9f47009e67b2ed3662fc5a
Autor:
Jinbo Huang, Meili Ge, Yingqi Shao, Min Wang, Peng Jin, Jiali Huo, Xingxin Li, Jing Zhang, Neng Nie, Yizhou Zheng
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-5 (2021)
Abstract Background X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia (CSA), and is associated with the mutations in the 5-aminolevulinate synthase 2 (ALAS2). The genetic basis of more than 40% of CSA cas
Externí odkaz:
https://doaj.org/article/dd44672fbdf34fa2b9a4b50ed3357966
Autor:
Justus Marquetand, Peter Freisinger, Tobias Lindig, Sebastian Euler, Michael Gasser, Dietrich Overkamp
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-5 (2020)
Abstract Background Acute hyperammonemia without signs of common causes in the elderly might be challenging to identify. We report the oldest case known to date of a female patient with late onset ornithine carbamyltransferase deficiency (OTC), which
Externí odkaz:
https://doaj.org/article/fdf5edc993a04f568a085e461dec7356
Autor:
Jianlong Zhuang, Chunnuan Chen, Yu’e Chen, Shuhong Zeng, Yuying Jiang, Yuanbai Wang, Xinying Chen, Yingjun Xie, Gaoxiong Wang
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Oculofaciocardiodental (OFCD) syndrome is an X-linked dominant syndrome caused by BCOR variants, which manifests only in females and presumed leading to male lethality. Herein, we aim to present a prenatal diagnosis for OFCD syndrome asso
Externí odkaz:
https://doaj.org/article/4c7ac7ca45104a0e9d7cb16cf0907bb7
Publikováno v:
Pakistan Journal of Medical Research, Vol 60, Iss 2 (2021)
Background: Fragile XE (FRAXE) is an X-linked recessive condition that affects 1 in 50,000 of new born males with intellectual disability (ID). It is characterized by mild Intellectual disability (ID), speech delay cognitive impairment, and in some c
Externí odkaz:
https://doaj.org/article/00db3f978905459a8538f5761ac1fced
Publikováno v:
Annals of Cardiac Anaesthesia, Vol 23, Iss 4, Pp 512-514 (2020)
Azygos or hemizygous continuation of inferior vena cava (IVC) is diagnosed in the presence of intrahepatic interruption of IVC. We report a case of a 4-year-old, male child presenting with a history of poor weight gain. A detailed evaluation of the c
Externí odkaz:
https://doaj.org/article/0e7524bd93f0470fa8f53ae7d5f56ad6