HEREDITARY

作品数：247被引量：462H指数：9
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相关机构：中国人民解放军总医院首都医科大学宣武医院首都医科大学华北煤炭医学院更多>>
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Mitochondrial transplantation:a promising strategy for the treatment of retinal degenerative diseases
《Neural Regeneration Research》2025年第12期3370-3387,共18页Jing Chi Bin Fan Yulin Li Qing Jiao Guang-Yu Li 
supported by the National Natural Science Foundation of China,Nos.8247041526,81570864,82171053(to GYL)。
The retina,a crucial neural tissue,is responsible for transforming light signals into visual information,a process that necessitates a significant amount of energy.Mitochondria,the primary powerhouses of the cell,play...
关键词：age-related macular degeneration Leber’s hereditary optic neuropathy mitochondrial transfer mitochondrial transplantation retinal degenerative diseases 
Hereditary alpha tryptasemia and clinical implications
《World Journal of Clinical Cases》2025年第21期6-15,共10页Ece TüsüzÖnata ÖnerÖzdemir Süreyya Savaşan 
Hereditary alpha tryptasemia was first described in 2016 and is the most common(up to 72%)cause of elevated serum basal tryptase(TPS).The clinical presentation of this condition,which is caused by copy number gains in...
关键词：Tryptasemia Autosomal dominant Hereditary alpha tryptasemia Mast cell Tyrosine kinase protein 
Targeting cholesterol trafficking to mitigate axonal degeneration in hereditary spastic paraplegia
《Neural Regeneration Research》2025年第5期1397-1398,共2页Zhenyu Chen Xue-Jun Li 
supported by the NIH grant(RO1 NS118066);the Blazer Foundation(to XJL)。
Axonal degeneration underlies many debilitating diseases including hereditary spastic paraplegia(HSP),a genetically and clinically diverse group of disorders characterized by spasticity and weakness of the lower extre...
关键词：DEGENERATION DISEASES HEREDITARY 
Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria
《Genes & Diseases》2025年第2期68-71,共4页Yujing Sun Yuan Liu Xiaoli Zhang Ling Jiang 
funded by the National Natural Science Foundation of China Youth Fund (No.82200918);the Natural Science Foundation of Shandong Province Youth Fund (China) (No.ZR2021QC111).
Hereditary hypophosphatemic rickets with hypercalciuria(HHRH)is a rare autosomal recessive disorder characterized by hypophosphatemia,hypercalciuria,and recurrent nephrolithiasis,often resulting in rickets and osteoma...
关键词：calci SLC HEREDITARY 
Diabetes Mellitus Revealing a Rabson-Mendenhall Syndrome: A Case Report
《Open Journal of Endocrine and Metabolic Diseases》2025年第2期23-28,共6页Samia Bentaleb Siham Belmaati Cherkaoui Sana Abourazzak Mustapha Hida 
Rabson-Mendenhall syndrome (RMS) is a rare autosomal recessive inherited disease marked by insulin resistance. Mutations in the insulin receptor gene seem to be the fundamental mechanism behind this type A insulin-res...
关键词：Acanthosis Nigricans Insulin Resistance DIABETES HEREDITARY 
Germline pathogenic variants among high hereditary risk patients with breast and ovarian cancer and unaffected subjects in Lebanese Arab women
《World Journal of Clinical Oncology》2024年第12期1481-1490,共10页Hiba A Moukadem Mohammad A Fakhreddine Nada Assaf Nadine Safi Ahmad Al Masry Monita Al Darazi Rami Mahfouz Nagi S El Saghir 
BACKGROUND The prevalence of germline pathogenic variants in high hereditary risk breast and/or ovarian cancer patients and unaffected subjects referred for testing is an unmet need in low and middle-income countries....
关键词：Breast cancer Ovarian cancer Breast cancer susceptibility gene 1/2 Germline pathogenic variant High hereditary risk 
Diverse phenotype of Méenière’s disease associated with family history,thyroid disorder,migraine and associated disorders
《Journal of Otology》2024年第4期185-192,共8页Ilmari Pyykkö Vinay Jing Zou Artur Vetkas Vinaya Manchaiah 
Objective:To better understand the clinical phenotype of Méenière’s disease(MD),we examined family history,thyroid disorder,migraine,and associated disorders in complaints of people living with MD.Method:We designe...
关键词：Méenière’s disease MIGRAINE THYROID Family history HEREDITARY 
Nanoengineered mitochondria enable ocular mitochondrial disease therapy via the replacement of dysfunctional mitochondria
《Acta Pharmaceutica Sinica B》2024年第12期5435-5450,共16页Yi Wang Nahui Liu Lifan Hu Jingsong Yang Mengmeng Han Tianjiao Zhou Lei Xing Hulin Jiang 
supported by the National Natural Science Foundation of China(82020108029,82304416,82073398,82302367,China);supported by the Natural Science Foundation of Jiangsu Province(BK20231016,BK20231019,China);the China Postdoctoral Science Foundation(grant Number:2022M720173,China);Jiangsu Funding Program for Excellent Postdoctoral Talent(2023,China);the Fundamental Research Funds for the Central Universities(2632023GR20,China);State Key Laboratory of Natural Medicines China Pharmaceutical University(SKLNMZZ202021,China);Double First-class University Projects(CPU2018GY06,China);Double First-Rate construction plan of China Pharmaceutical University(CPU2022QZ18,China)。
Leber’s hereditary optic neuropathy(LHON)is an ocular mitochondrial disease that involves the impairment of mitochondrial complex I,which is an important contributor to blindness among young adults across the globe.H...
关键词：Engineered mitochondria Mitochondrial transfer Mitochondrial disease Leber’s hereditary optic neuropathy Nanoparticle Complex I defect Mitochondrial function IDEBENONE 
Engineering of the AAV-Compatible Hair Cell-Specific Small-Size Myo15 Promoter for Gene Therapy in the Inner Ear
《Research》2024年第4期710-724,共15页Shao Wei Hu Jun Lv Zijing Wang Honghai Tang Hui Wang Fang Wang Daqi Wang Juan Zhang Longlong Zhang Qi Cao Yuxin Chen Ziwen Gao Yu Han Wuqing Wang Geng-lin Li Yilai Shu Huawei Li 
supported by National Science Fund for Distinguished Young Scholars(82225014);the Science and Technology Commission of Shanghai Municipality(21JC1401000);the Ministry of Science and Technology of China(2021YFA1101302,2020YFA0908201);the National Natural Science Foundation of China(82192860,82171148,82201306);the China Postdoctoral Science Foundation(2022M720780);the Shanghai Municipal Health Commission(20224Z0003);the Science and Technology Commission of Shanghai Municipality(21S11905100 and 23J31900100);the Shanghai Municipal Education Commission(2023ZKZD12);the Shanghai Clinical Medical Research Center for Otolaryngology Diseases(20MC1920200);the science and technology innovation program of Hunan Province(2023RC4005);the Shuguang Program(20SG08)supported by Shanghai Municipal Education Commission and Shanghai Education Development Foundation,and Fudan University(yg2022-23).
Adeno-associated virus(AAV)-mediated gene therapy is widely applied to treat numerous hereditary diseases in animal models and humans.The specific expression of AAV-delivered transgenes driven by cell type-specific pr...
关键词：AAV MYO HEREDITARY 
MSC-mediated mitochondrial transfer restores mitochondrial DNA and function in neural progenitor cells of Leber’s hereditary optic neuropathy
《Science China(Life Sciences)》2024年第11期2511-2519,共9页Rui Wang Feixiang Bao Manjiao Lu Xiaoyun Jia Jiahui Xiao Yi Wu Qingjiong Zhang Xingguo Liu 
financially supported by the National Key Research and Development Program of China(2022YFE0210100,2023YFE0210100,2022YFA1103800,2019YFA0904500);the National Natural Science Foundation projects of China(32025010,92157202,32241002,92254301,92357302,32261160376,31970709,32070729,32100619,32170747,32322022,32370782,32371007,32300608,32300620);NSFC/RGC Joint Grant Scheme 2022/2023(N_CUHK 428/22);the Strategic Priority Research Program of the Chinese Academy of Sciences(XDB0480000);the Key Research Program,CAS(ZDBS-ZRKJZ-TLC003);International Cooperation Program,CAS(154144KYSB20200006);CAS Project for Young Scientists in Basic Research(YSBR-075);Guangdong Province Science and Technology Program(2023B0303000023,2023B1111050005,2023A1515030231,2022A1515110493,2023B1212060050,2021A1515012513,2021B1515020096,2022A1515012616,2022A1515110951,2023B1212120009,2024A1515010782,2024B1515040020,2024A1515030120);Guangzhou Science and Technology Program(202102021037,202102020827,202102080066,202206060002,2023A04J0414);Health@InnoHK funding support from the Innovation Technology Commission of the Hong Kong SAR,Basic Research Project of Guangzhou Institutes of Biomedicine and Health,Chinese Academy of Sciences;CAS Youth Innovation Promotion Association(to Y.W and K.C).
Leber’s hereditary optic neuropathy(LHON)is a debilitating mitochondrial disease associated with mutations in mitochondrial DNA(mtDNA).Unfortunately,the available treatment options for LHON patients are limited due t...
关键词：MITOCHONDRIA mitochondrial DNA mitochondrial diseases induced pluripotent stem cells stem cells METABOLISM energy mesenchymal stem cells 
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