Výsledky vyhledávání - "Gene deletion mutation"

Akademický článek

Combination of Hepatitis B Virus Pre-S2 Gene Deletion Mutation and Tumor-Node-Metastasis Stage Predicts Higher Hepatocellular Carcinoma Recurrence after Curative Surgical Resection

Autor: Long-Bin Jeng, Tsai-Chung Li, Wen-Ling Chan, Chiao-Fang Teng

Publikováno v: Biomedicines, Vol 11, Iss 3, p 923 (2023)

Hepatocellular carcinoma (HCC) is one of the most frequent and life-threatening human cancers worldwide. Despite curative resection surgery, the high recurrence rate of HCC leads to poor patient survival. Chronic hepatitis B virus (HBV) infection is

Externí odkaz: https://doaj.org/article/2d0a6b63b2a74b9d89c3de6a065b5522

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Akademický článek

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Successful Live Birth Following Natural Cycle Oocyte Retrieval in a Woman with Primary Infertility and Atypical Primary Ovarian Insufficiency with a DNAH1 Gene Deletion Mutation

Autor: Ancong Wang, Dong-Yi Zhu, Shan Huang, Xiang-Hong Zhai, Feng-Xia Wu, Xiangyu Zhao, Min Liu

Publikováno v: Genetic Testing and Molecular Biomarkers. 25:668-673

Background: Dynein, axonemal, heavy chain 1 (DNAH1) gene mutations have been found to be related to primary ciliary dyskinesia (PCD) and the DNAH1 gene is associated with abnormal flagellar morphol...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::61df3dd0a92a78ed8fe0c22c0d1116a9
https://doi.org/10.1089/gtmb.2020.0303

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Akademický článek

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Normal peripheral blood neutrophil numbers accompanying ELANE whole gene deletion mutation

Autor: Sioban Keel, Marshall S. Horwitz, Mercy Y. Laurino

Publikováno v: Blood Advances. 3:2470-2473

Key Points The patient reported here, along with collective observations in the literature, suggest that ELANE deletion does not cause neutropenia. Potential therapeutic genome editing involving knockout of the mutant ELANE allele is therefore not ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a364cfa51f6366e1de65b5451e662177
https://doi.org/10.1182/bloodadvances.2019000498

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A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency

Autor: Lifang Dai, Changhong Ding, Fang Fang

Publikováno v: Brain and Development. 41:205-209

Background Aromatic l -amino acid decarboxylase (AADC) deficiency (OMIM # 608643 ) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3da174924079a2767a3d5a8390bbd283
https://doi.org/10.1016/j.braindev.2018.08.003

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Severe obesity, hypogonadotropic hypogonadism and a WDR11 gene mutation

Autor: Jian-mei Yang, Xiaohui Guo, Difei Lu, Junqing Zhang

Publikováno v: QJM: An International Journal of Medicine. 115:160-161

Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease characterized by gonadotropin- releasing hormone (GnRH) deficiency. A number of variants were proved to be the pathogenesis gene of CHH, and a proportion of the patients of CHH

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c50d95936684b29a37753d851d6d34e0
https://doi.org/10.1093/qjmed/hcab279

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A Rare Chinese Family with Genetic and Clinical Expression of Danon Disease: Case Reports

Autor: Shuchao Pang, Lijun Gan, Ning Zhai, Qinglei Wang, Shuai Wang, Yinghua Cui, Bo Yan

Publikováno v: Cardiology and Cardiovascular Medicine.

Danon disease is a rare X-linked dominant disorder caused by the lysosome- associated membrane protein 2 (LAMP2) gene. It is characterized by the triad of hypertrophic cardiomyopathy (HCM), myopathy, and intellectual disability. Genetic analysis was

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::42d700ab7facd39d5f8c35994e82f4b1
https://doi.org/10.26502/fccm.92920198

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Mutation spectrum of Chinese patients with Bartter syndrome

Autor: Yanxia Gao, Leping Shao, Yi Lin, Yue Han, Qing Sun, Shujuan Wang

Publikováno v: Oncotarget

// Yue Han 1, 2 , Yi Lin 3 , Qing Sun 4 , Shujuan Wang 2 , Yanxia Gao 5 and Leping Shao 1, 2 1 Central Laboratory, Affiliated Hospital, Qingdao University, Qingdao 266003, P.R. China 2 Department of Nephrology, Affiliated Hospital, Qingdao University

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::624f4216efd19755097283f622c81283
https://doi.org/10.18632/oncotarget.21355

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Splicing Characterization of

Autor: Chunli Wang, Yuan Han, Jiaran Zhou, Bixia Zheng, Wei Zhou, Huaying Bao, Zhanjun Jia, Aihua Zhang, Songming Huang, Guixia Ding, Fei Zhao

Publikováno v: Frontiers in Genetics, Vol 11 (2020)
Frontiers in Genetics

ObjectiveType III Bartter syndrome (BS) is caused by loss-of-function mutations in the gene encoding basolateral chloride channel ClC-Kb (CLCNKB), and is characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism. Here, we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3f9e0c92756f217d704ca9a403c574f
https://pubmed.ncbi.nlm.nih.gov/32153641

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