HETEROZYGOUS

作品数：70被引量：159H指数：6
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相关机构：安徽省立医院复旦大学中国人民解放军总医院上海交通大学附属第六人民医院更多>>
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Identification of EPOR and JAK2 double heterozygous variants in twin cases with familial erythrocytosis
《Science China(Life Sciences)》2025年第3期880-883,共4页Wenqian Li Guoxiong Han Xiaorui Wang Kuo Shen Youbang Xie 
supported by the Translational Research Grant of NCRCH (2021WWB04);the Clinical Research Center for Blood System Diseases of Qinghai Province (2021-SF-136);the 2022 “Kunlun Yingcai” Advanced Innovation and Entrepreneurship Top-notch Talents Project in Qinghai Province;the National Natural Science Foundation of China(81960027).
Dear Editor,Polycythemia,defined by an elevated red blood cell(RBC)count and increased hemoglobin(Hb)levels,is not typically associated with leukocytosis or thrombocytosis(Lund and Anholm,1957).Familial erythrocytosis...
关键词：elevated typically 
Heterozygous deletion of Cul4b in female mice leads to ovulatory dysfunction and female infertility
《Genes & Diseases》2025年第1期122-125,共4页Yufeng Wang Yuting Liu Wei Jiang Yu Song Yongxin Zou Molin Wang Qiao Liu Gongping Sun Yaoqin Gong Baichun Jiang 
supported by the National Natural Science Foundation of China(No.31970559,82171851,32370652).
It is estimated that infertility impacts 8%-12%of reproductive-aged couples worldwide.Female infertility accounts for 37%of causes among infertile couples,and ovulatory dysfunction is regarded as its most common facto...
关键词：INFERTILITY FEMALE DYSFUNCTION 
Novel heterozygous missense variants in the TOE1 gene linked to pontocerebellar hypoplasia type 7
《Genes & Diseases》2025年第1期151-154,共4页Aijun Yang Xiaoli Kong Qin Wang Runqing Miao Haixiang Ma Anzhuo Chu Zhengtong Wang Jiaqing Lu Bo Liu Bingcheng Mu Runhan Guo Jiayi Li Xiaoxiao Gongye Huabao Xiong Tao Zhong 
supported by grants from the National Natural Science Foundation of China(No.82171810);the Program of Shandong Provincial TCM Sci-Tech Project(M-2023210).
Pontocerebellar hypoplasia type 7(PCH7)(OMIM#614969)stands as a rare and severe neurodegenerative syndrome marked by distinct characteristics,including neurological decline,hypoplasia in the pons and cerebellum,muscle...
关键词：situated RARE pointed 
Pathological features of non-alcoholic steatohepatitis in a pediatric patient with heterozygous familial hypobetalipoproteinemia:A case report
《World Journal of Hepatology》2025年第2期286-292,共7页Kiwako Miyamoto Sonoko Kondo Takeo Kondo Ryou Ishikawa Ryosuke Tani Tomoko Inoue Keiji Matsunaga Tetsuo Minamino Takashi Kusaka 
BACKGROUND Heterozygous familial hypobetalipoproteinemia(FHBL)is a semi-autosomal disorder that is caused mainly by an APOB variant.It is usually asymptomatic and rarely leads to non-alcoholic steatohepatitis(NASH).CA...
关键词：Nonalcoholic steatohepatitis Familial hypobetalipoproteinemia HYPOLIPIDEMIA APOB variant Vitamin E Case report 
Transposable elements shape the landscape of heterozygous structural variation in a bird genome
《Zoological Research》2025年第1期75-86,共12页Bo-Ping Li Na Kang Zao-Xu Xu Hao-Ran Luo Shi-Yu Fan Xiao-Han Ao Xing Li Ya-Peng Han Xiao-Bin Ou Luo-Hao Xu 
supported by the Foundation of Gansu Key Laboratory of Protection and Utilization for Biological Resources and Ecological Restoration in Longdong (LDSWZY202103);Natural Science Foundation of Gansu Province (22JR5RM210)to B.P.L.;Gansu Ziwuling Ecosystem Observation and Research Station (20JR10RA658)。
Avian genomes exhibit compact organization and remarkable chromosomal stability.However,the extent and mechanisms by which structural variation in avian genomes differ from those in other vertebrate lineages are poorl...
关键词：Golden pheasant Structural variation Transposable elements Chromosome evolution 
Haplotype-resolved genome of a heterozygous wild peach reveals the PdaWRKY4-PdaCYP716A1 module mediates resistance to aphids by regulating betulin biosynthesis
《Journal of Integrative Plant Biology》2024年第12期2716-2735,共20页Jun-Xiu Wang Yong Li Xin-Wei Wang Ke Cao Chang-Wen Chen Jin-Long Wu Wei-Chao Fang Geng-Rui Zhu Xue-Jia Chen Dan-Dan Guo Jiao Wang Ya-Lin Zhao Jia-Qi Fan Su-Ning Liu Wen-Qing Li Hang-Ling Bie Qiang Xu Li-Rong Wang 
supported by the National Key Research and Development Program(2023YFE0105400);Central Public-interest Scientific Institution Basal Research Fund(Y2022QC23);the Agricultural Science and Technology Innovation Program(CAAS-ASTIP-2023-ZFRI-01);Natural Science Foundation of Henan(232300421042);the Crop Germplasm Resources Conservation Project(2016NWB041);the National Natural Science Foundation of China(32402492);the National Key Research and Development Program(2019YFD1000200).
Wild species of domesticated crops provide valuable genetic resources for resistance breeding.Prunus davidiana,a wild relative of peach with high heterozygosity and diverse stress tolerance,exhibits high resistance ag...
关键词：allele-specific expression aphid resistance hap-lotype genome PdaWRKY4 PEACH 
Low Concentration of Wenyang Tonglin Decoction Promotes Conjugation and Transfer of Drug-Resistant Plasmids among Heterologous Strains
《Chinese Journal of Integrative Medicine》2024年第8期721-728,共8页WANG Bi-yan BU Hong-shi XIA Li-bo JIANG Xiang-yu TONG Yan-qing 
Supported by the National Natural Science Foundation of China(No.81873070)。
Objective To investigate the effect of low concentration of Wenyang Tonglin Decoction(WTD)on the binding conditions of R45 plasmid conjugative transfer under liquid phase conjugation and its mechanism.Methods Escheric...
关键词：urinary tract infection Chinese medicine drug-resistant plasmid heterozygous strains CONJUGATION transfer 
A novel heterozygous SF1/NR5A1 gene variant causes 46,XY DSD-gonadal dysgenesis with hypergonadotropic hypogonadism without adrenal insufficiency被引量：1
《Genes & Diseases》2024年第4期128-130,共3页Luis Ramos 
the Declaration of Helsinki and the standard investigation protocols of the Institutional Ethical Committee for Investigation in Humans of the INCMNSZ(No.BRE-2614-18-21-1).
Steroidogenic factor 1(SF1/NR5A1;nuclear receptor subfamily 5 group A member 1)is an essential orphan protein involved in gonadal embryogenesis,sex determination,and reproductive endocrinology.
关键词：INSUFFICIENCY determination gonadal 
Chromosomal-level genome and metabolome analyses of highly heterozygous allohexaploid Dendrocalamus brandisii elucidate shoot quality and developmental characteristics被引量：1
《Journal of Integrative Plant Biology》2024年第6期1087-1105,共19页Jutang Jiang Zeyu Zhang Yucong Bai Xiaojing Wang Yuping Dou Ruiman Geng Chongyang Wu Hangxiao Zhang Cunfu Lu Lianfeng Gu Jian Gao 
supported by the National Key Research and Development Program of China(2021YFD2200505,2018YFD0600101);the National Natural Science Foundation of China(32071849)。
Dendrocalamus brandisii(Munro)Kurz is a sympodial bamboo species with inimitable taste and flavorful shoots.Its rapid growth and use as high-quality material make this bamboo species highly valued for both food proces...
关键词：bamboo shoots Dendrocalamus brandisii(Munro)Kurz flavonoid GENOME lignin 
A Heterozygous Phospholamban Variant(p.R14del)Leads to Left Ventricular Involvement and Heart Failure Phenotypes in Arrhythmogenic Right Ventricular Cardiomyopathy
《Phenomics》2024年第1期13-23,共11页Han Mo Xiumeng Hua Mengni Bao Zhe Sun Xiao Chen Mengda Xu Jiangping Song 
the National Natural Science Foundation for Distinguished Young Scholars of China(Grant No.82125004);the Shenzhen Science and Technology Innovation Commission(Grant No.JCYJ20220818103414030);the National Natural Science Foundation of China(Grant No.82300397);the key project of Shenzhen Basic Research Program(Natural Science Foundation of Shenzhen,Grant No.20220241);the Program for Guangdong Introducing Innovative and Enterpreneurial Teams(Grant No.2019ZT08Y481).
This study aimed to determine the prevalence and clinical features of Arrhythmogenic Right Ventricular Cardiomyopathy(ARVC)caused by pathogenic mutations in the Phospholamban(PLN)gene.The study included 170 patients w...
关键词：Arrhythmogenic right ventricular cardiomyopathy PHOSPHOLAMBAN Left ventricular involvement Heart failure Risk stratifcation 
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