GENOTYPE-PHENOTYPE

作品数：20被引量：44H指数：4
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Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients:a rare occurrence?
《Neural Regeneration Research》2025年第1期130-138,共9页Ilaria Martinelli Jessica Mandrioli Andrea Ghezzi Elisabetta Zucchi Giulia Gianferrari Cecilia Simonini Francesco Cavallieri Franco Valzania 
Amyotrophic lateral sclerosis(ALS)is a neuromuscular condition resulting from the progressive degeneration of motor neurons in the cortex,brainstem,and spinal cord.While the typical clinical phenotype of ALS involves ...
关键词：amyotrophic lateral sclerosis(ALS) AUTONOMIC extramotor GENOTYPE-PHENOTYPE multisystem involvement Parkinson’s disease sensory SOD1 superoxide dismutase 1 URINARY vocal cord palsy 
RNF213 in moyamoya disease:Genotype-phenotype association and the underlying mechanism
《Chinese Medical Journal》2024年第21期2552-2560,共9页Jianxun Fang Xinzhuang Yang Jun Ni 
supported by grants from STI2030-Major Project#2021ZD0201100 Task 5#2021ZD0201105;National High Level Hospital Clinical Research Funding(No.2022-PUMCH-D-007).
Moyamoya disease(MMD)is a cerebrovascular disorder characterized by a steno-occlusive internal carotid artery and compensatory vascular network formation.Although the precise pathogenic mechanism remains elusive,genet...
关键词：Moyamoya disease RNF213 POLYMORPHISM p.R4810K 
Genome-scale CRISPRi screening:A powerful tool in engineering microbiology被引量：3
《Engineering Microbiology》2023年第3期65-74,共10页Letian Sun Ping Zheng Jibin Sun Volker F.Wendisch Yu Wang 
supported by the National Key R&D Program of China(2018YFA0901500);the National Natural Science Foundation of China(32222004 and 32270101);the Youth Innovation Promotion Association of Chinese Academy of Sciences(2021177).
Deciphering gene function is fundamental to engineering of microbiology.The clustered regularly interspaced short palindromic repeats(CRISPR)system has been adapted for gene repression across a range of hosts,creating...
关键词：CRISPR interference Genome-scale library Pooled screening Arrayed screening Genotype-phenotype mapping Functional genomics 
Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population:a retrospective genotype-phenotype analysis of 105 patients被引量：1
《World Journal of Pediatrics》2023年第7期674-686,共13页Wei Wang Si-Hao Gao Min Weil Lin-Qing Zhong Wei Liu Shan Jian Juan Xiao Cai-Hui Zhang Jian-Guo Zhang Xiao-Feng Zeng Wei-Bo Xia Zheng-Qing Qiu Hong-Mei Song 
the CAMS Innovation Fund for Medical Sciences(CIFMS 2021-I2M-1-003);the National Key R&DProgramof China(2021YFC2702001,2016YFC0901500);National High Level Hospital Clinical Research Funding(2022-PUMCH-B-079).
Background Progressive pseudorheumatoid dysplasia(PPRD)is a rare genetic disease with autosomal recessive inherit-ance.There was a lack of genotype-phenotype correlation data from the Chinese population.This study aim...
关键词：CCN6 GENETICS MUTATIONS Progressive pseudorheumatoid dysplasia WISP3 
Genotype-phenotype landscape of pituitary adrenocorticotroph hormone adenoma
《China Medical Abstracts(Internal Medicine)》2022年第2期90-91,共2页MIAO Hui 
Objective To explore the pathogenesis of pituitary ACTH adenomas using whole-genome sequencing analysis.Methods Fresh tumor tissues and peripheral blood samples were collected in 9 confirmed cases of pituitary ACTH ad...
关键词：PITUITARY ADENOMA SURGERY 
BnVIR:bridging the genotype-phenotype gap to accelerate mining of candidate variations underlying agronomic traits in Brassica napus被引量：6
《Molecular Plant》2022年第5期779-782,共4页Zhiquan Yang Congyuan Liang LuLu Wei Shengbo Wang Feifan Yin Dongxu Liu Liang Guo Yongming Zhou Qing-Yong Yang 
supported by the National Natural Science Foundation of China(32070559);National Key Research and Development Plan of China(2021YFF1000100,2017YFE0104800);Fundamental Research Funds for the Central University HZAU(2662018PY068)。
Dear Editor,Genetic variations,which range from single nucleotide polymor-phisms(SNPs)and short insertion/deletions(InDels)to large-scale structural variations(SVs),are the basis of phenotypic diversity.Understanding ...
关键词：AGRONOMIC TRAITS INDEL 
Identification of rare PTCH1 nonsense variant causing orofacial cleft in a Chinese family and an up-to-date genotype- phenotype analysis被引量：1
《Genes & Diseases》2021年第5期689-697,共9页Wenjie Zhong Huaxiang Zhao Wenbin Huang Mengqi Zhang Qian Zhang Yue Zhang Chong Chen Zulihumaer Nueraihemaiti Dilifeire Tuerhong Huizhe Huang Gulibaha Maimaitili Feng Chen Jiuxiang Lin 
This study was supported by the National Natural Science Foundation of China(grant numbers:81870747,81860194,and 31771619);Beijing Municipal Natural Science Foundation(grant number:7182184).
The Patched 1(PTCH1)gene encodes a membrane receptor involved in the Hedge-hog(Hh)signaling pathway,an abnormal state of which may result in congenital defects or hu-man tumors.In this study,we conducted whole-exome s...
关键词：Cleft lip with or without palate Clinical genetics Genotype-phenotype analysis PTCH1 Whole-exome sequencing 
Genetic diagnosis of neonatal-onset seizures
《Genes & Diseases》2019年第4期441-447,共7页Xueling Ma Fengzhu Yang Ziyu Hua 
The study was funded by the grant from National Key Clinical Specialist Construction Programs of China-Neonatology(Grant No.2011-873).The funding agency had no role in study design,data collection and analysis,or preparation of the manuscript.
Many seizures in neonates are due to early-onset epilepsy,which is often difficult to diagnose,especially to explore the causes.Recently,the development of next-generation sequencing(NGS)has led to the discovery of a ...
关键词：GENETIC GENOTYPE-PHENOTYPE Molecular diagnosis NEONATE Seizures 
Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system
《Chinese Medical Journal》2019年第2期145-153,共9页Lu-Jiao Li Fang Lyu Yu-Wen Song Ou Wang Yan Jiang Wei-Bo Xia Xiao-Ping Xing Mei Li 
grants from the National Natural Science Foundation of China (No.81570802);Chinese Academy of Medical Sciences Innovative Fund for Medical Sciences (CIFMS;No.2016-I2M-3-003);The National Key Research and Development Program of China (No.2016YFC0901501).
Background:Osteogenesis imperfecta (OI), a heritable bone fragility disorder, is mainly caused by mutations in COL1A1 gene encoding α1 chain of type I collagen.This study aimed to investigate the COL1A1 mutation spec...
关键词：OSTEOGENESIS imperfecta COL1A1 Clinical SCORING system Genotype PHENOTYPE 
Genotype-phenotype analysis of a novel mutation of FBN1 gene in a Chinese Marfan syndrome family
《中国循环杂志》2018年第S01期125-125,共1页Ying Zhang Lin Zhang Peng Fan Kunqi Yang Xianliang Zhou 
Objective causing mutation in a Marfan syndrome(MFS)family with a proband,and to establish genotype-phenotype correlations.Methods Genomic DNA from peripheral blood leukocytes of a Chinese Marfan syndrome familial wer...
关键词：MARFAN syndrome(MFS) FBN1 CHINESE MARFAN SYNDROME FAMILY 
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