Works matching IS 17558794 AND DT 2023 AND VI 16 AND IP 1

Results: 341

Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01682-w
By:
- Daneshi, Ahmad;
- Garshasbi, Masoud;
- Farhadi, Mohammad;
- Falavarjani, Khalil Ghasemi;
- Vafaee-Shahi, Mohammad;
- Almadani, Navid;
- Zabihi, MohammadSina;
- Ghalavand, Mohammad Amin;
- Falah, Masoumeh
Publication type:
Article
Glycosyltransferase GLT8D1 and GLT8D2 serve as potential prognostic biomarkers correlated with Tumor Immunity in Gastric Cancer.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01559-y
By:
- Xu, Huimei;
- Huang, Ke;
- Lin, Yimin;
- Gong, Hang;
- Ma, Xueni;
- Zhang, Dekui
Publication type:
Article
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01562-3
By:
- Singh, Ashish Kumar;
- Talseth-Palmer, Bente;
- Xavier, Alexandre;
- Scott, Rodney J.;
- Drabløs, Finn;
- Sjursen, Wenche
Publication type:
Article
Evaluation for causal effects of socioeconomic traits on risk of female genital prolapse (FGP): a multivariable Mendelian randomization analysis.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01560-5
By:
- Zhang, Wei;
- Ge, Jing;
- Qu, Zhaohui;
- Wu, Wenjuan;
- Lei, Hua;
- Pan, Huiling;
- Chen, Honggu
Publication type:
Article
Genome-wide DNA methylation profiling of CD4<sup>+</sup> T lymphocytes identifies differentially methylated loci associated with adult primary refractory immune thrombocytopenia.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01557-0
By:
- Du, Hanzhi;
- Tang, Qinghua;
- Yang, Jian;
- Yan, Bin;
- Yang, Lihong;
- Wang, Mengchang
Publication type:
Article
Signature construction and molecular subtype identification based on immune-related genes for better prediction of prognosis in hepatocellular carcinoma.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01558-z
By:
- Sun, Liang;
- Wu, Zhengyi;
- Dong, Cairong;
- Yu, Shian;
- Huang, He;
- Chen, Zhendong;
- Wu, Zhipeng;
- Yin, Xiangbao
Publication type:
Article
Interaction between the expression of hsa_circRPRD1A and hsa_circHERPUD2 and classical coronary risk factors promotes the development of coronary artery disease.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01540-9
By:
- He, Shu;
- Fu, Yahong;
- Li, Chengcheng;
- Gan, Xiongkang;
- Wang, Yanjun;
- Zhou, Hanxiao;
- Jiang, Rongli;
- Zhang, Qian;
- Jia, Qiaowei;
- Chen, Xiumei;
- Jia, En-Zhi
Publication type:
Article
LSM2 is associated with a poor prognosis and promotes cell proliferation, migration, and invasion in skin cutaneous melanoma.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01564-1
By:
- Sun, Xiaofang;
- Zhang, Jianping;
- Hu, Jiayuan;
- Han, Qingdong;
- Ge, Zili
Publication type:
Article
Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review.
Published in:
2023
By:
- Yang, Qi;
- Zhang, Qiang;
- Qin, Zailong;
- Zhang, Shujie;
- Yi, Sheng;
- Yi, Shang;
- Zhang, Qinle;
- Luo, Jingsi
Publication type:
Case Study
Single-cell RNA sequencing reveals sexual diversity in the human bladder and its prospective impacts on bladder cancer and urinary tract infection.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01535-6
By:
- Wu, Ribao;
- Teng, Xiahong;
- Song, Qiong;
- Chen, Shuai;
- Wang, Lihui;
- Liao, Jinling;
- Zou, Chunlin
Publication type:
Article
Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01548-1
By:
- Cai, Meiying;
- Guo, Nan;
- Fu, Meimei;
- Chen, Yuqing;
- Liang, Bin;
- Que, Yanting;
- Ji, Qingqiang;
- Huang, Hailong;
- Xu, Liangpu;
- Lin, Na
Publication type:
Article
NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01556-1
By:
- Tang, Feng;
- Xiao, Yuanyuan;
- Zhou, Cong;
- Zhang, Haixia;
- Wang, Jing;
- Zeng, Yang
Publication type:
Article
Association between circulating fatty acid metabolites and asthma risk: a two-sample bidirectional Mendelian randomization study.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01545-4
By:
- Huang, Tingting;
- Long, Yichen;
- Ou, Yang;
- Li, Jia;
- Huang, Yilin;
- Gao, Jinming
Publication type:
Article
Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01544-5
By:
- Khaled, Boushra;
- Alzahayqa, Mahmoud;
- Jaffal, Ahmad;
- Sallam, Husam;
- Thawabta, Rua'a;
- Mansour, Mamoun;
- Alian, Akram;
- Salah, Zaidoun
Publication type:
Article
A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations.
Published in:
2023
By:
- Lin, Jiansheng;
- Lin, Yanyu;
- Wang, Gaoxiong
Publication type:
Case Study
Exploring the prognostic function of TMB-related prognostic signature in patients with colon cancer.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01555-2
By:
- Zhao, Yan;
- Liang, Xiaolong;
- Duan, Xudong;
- Zhang, Chengli
Publication type:
Article
Comprehensive bioinformatic analysis of the expression and prognostic significance of TSC22D domain family genes in adult acute myeloid leukemia.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01550-7
By:
- Xu, XiaoQiang;
- Sun, Rui;
- Li, YuanZhang;
- Wang, JiaXi;
- Zhang, Meng;
- Xiong, Xia;
- Xie, DanNi;
- Jin, Xin;
- Zhao, MingFeng
Publication type:
Article
Identification of two novel lipid metabolism-related long non-coding RNAs (SNHG17 and LINC00837) as potential signatures for osteosarcoma prognosis and precise treatment.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01553-4
By:
- Tang, Zhifang;
- Feng, Hanzhen;
- Shu, Longjun;
- Guo, Minzheng;
- Qi, Baochuang;
- Pu, Luqiao;
- Shi, Hongxin;
- Ren, Junxiao;
- Li, Chuan
Publication type:
Article
Comprehensive analysis of m6A related gene mutation characteristics and prognosis in colorectal cancer.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01509-8
By:
- Jiang, Tao;
- Xing, Linshuai;
- Zhao, Lipeng;
- Ye, Ziqi;
- Yu, Dong;
- Lin, Shengtao
Publication type:
Article
The identification of a two-gene prognostic model based on cisplatin resistance-related ceRNA network in small cell lung cancer.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01536-5
By:
- Zhang, Yani;
- Zhu, Qizhi;
- Qi, Jian;
- Fu, Meng;
- Xu, Ao;
- Wang, Wei;
- Wang, Hongzhi;
- Nie, Jinfu;
- Hong, Bo
Publication type:
Article
Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01547-2
By:
- Xu, Hui-Hui;
- Zhang, Yang;
- He, Zhe-Hang;
- Di, Xing-Hong;
- Pan, Fei-Yan;
- Shi, Wei-Wu
Publication type:
Article
Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review.
Published in:
2023
By:
- Yang, Qi;
- Zhang, Qiang;
- Qin, Zailong;
- Zhang, Shujie;
- Yi, Sheng;
- Yi, Shang;
- Zhang, Qinle;
- Luo, Jingsi
Publication type:
Case Study
A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01527-6
By:
- Pantou, Malena P.;
- Gourzi, Polyxeni;
- Vlagkouli, Vasiliki;
- Papatheodorou, Efstathios;
- Tsoutsinos, Alexandros;
- Nyktari, Eva;
- Degiannis, Dimitrios;
- Anastasakis, Aris
Publication type:
Article
Implications of Peptidyl Arginine Deiminase 4 gene transcription and polymorphisms in susceptibility to rheumatoid arthritis in an Iranian population.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01532-9
By:
- Bagheri-Hosseinabadi, Zahra;
- Mirzaei, Mohammad Reza;
- Esmaeili, Ozrasadat;
- Asadi, Fatemeh;
- Ahmadinia, Hassan;
- Shamsoddini, Banafshe;
- Abbasifard, Mitra
Publication type:
Article
Gene S-phase kinase associated protein 2 is a novel prognostic marker in human neoplasms.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01561-4
By:
- Li, Guo-Sheng;
- Huang, Tao;
- Zhou, Hua-Fu
Publication type:
Article
Evaluation for causal effects of socioeconomic traits on risk of female genital prolapse (FGP): a multivariable Mendelian randomization analysis.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01560-5
By:
- Zhang, Wei;
- Ge, Jing;
- Qu, Zhaohui;
- Wu, Wenjuan;
- Lei, Hua;
- Pan, Huiling;
- Chen, Honggu
Publication type:
Article
Association between circulating fatty acid metabolites and asthma risk: a two-sample bidirectional Mendelian randomization study.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01545-4
By:
- Huang, Tingting;
- Long, Yichen;
- Ou, Yang;
- Li, Jia;
- Huang, Yilin;
- Gao, Jinming
Publication type:
Article
Correction: Construction of a lipid metabolism-related and immune-associated prognostic score for gastric cancer.
Published in:
2023
By:
- Dai, Jing;
- Li, Qiqing;
- Quan, Jun;
- Zou, Yueyi;
- Liu, Juan;
- Gao, Kai
Publication type:
Correction Notice
Revealing platelet-related subtypes and prognostic signature in pancreatic adenocarcinoma.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01530-x
By:
- Zhao, Jian-Gang;
- Li, Yu-Jie;
- Wu, Yong;
- Zhang, Ke;
- Peng, Lin-Jia;
- Chen, Hao
Publication type:
Article
Identification of genetic mechanisms underlying lipid metabolism-mediated tumor immunity in head and neck squamous cell carcinoma.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01543-6
By:
- Liu, Shaokun;
- Wang, Shuning;
- Wang, Zhenlin
Publication type:
Article
Analysis and validation of aging-related genes in prognosis and immune function of glioblastoma.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01538-3
By:
- Mu, Jianhua;
- Gong, Jianan;
- Shi, Miao;
- Zhang, Yinian
Publication type:
Article
Vitamin D receptor gene polymorphism and polycystic ovary syndrome susceptibility.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01541-8
By:
- Albahlol, Ibrahim A;
- Neamatallah, Mustafa;
- Serria, Mohamed Saad;
- El-Gilany, Abdel-Hady;
- Setate, Yomna A;
- Alkasaby, Nashwa M.;
- Mostafa, Sally Abdallah;
- Abdelaziz, Mahmoud;
- Elazab, Hossam;
- Ammar, Omar A.
Publication type:
Article
Retinoblastoma gene expression profiling based on bioinformatics analysis.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01537-4
By:
- Mao, Jun;
- Lu, Mingzhi;
- Lu, Siduo;
- Xing, Yiqiao;
- Xu, Xuejiao;
- Chen, Ying;
- Xu, Huirong;
- Zuo, Wei;
- Zhou, Jingwen;
- Du, Wei
Publication type:
Article
Identification of key genes and pathways in atherosclerosis using integrated bioinformatics analysis.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01533-8
By:
- Li, Shihuan;
- Li, Suqin;
- Li, Qingjie;
- Zhou, Qiaofeng;
- Liao, Wenli;
- Yu, Liangzhu;
- Ouyang, Changhan;
- Xia, Hongli;
- Liu, Chao;
- Li, Mincai
Publication type:
Article
Identification of potential diagnostic biomarkers of atherosclerosis based on bioinformatics strategy.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01531-w
By:
- Zheng, Zhipeng;
- Yuan, Dong;
- Shen, Cheng;
- Zhang, Zhiyuan;
- Ye, Jun;
- Zhu, Li
Publication type:
Article
A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01529-4
By:
- Durmaz Çelik, Nazlı;
- Erzurumluoğlu, Ebru;
- Özben, Serkan;
- Toprak, Uğur;
- Yorulmaz, Göknur;
- Artan, Sevilhan;
- Özkan, Serhat
Publication type:
Article
The role of hsa_circ_0008945 in juvenile-onset systemic lupus erythematosus.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01524-9
By:
- Wang, Qifan;
- Xu, Baiye;
- Zhang, Qingmei;
- Wang, Haidao;
- Chen, Shulian;
- Chen, Tingting;
- Liang, Shishan
Publication type:
Article
An observational human study investigating the effect of anabolic androgenic steroid use on the transcriptome of skeletal muscle and whole blood using RNA-Seq.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01512-z
By:
- Kolliari-Turner, Alexander;
- Lima, Giscard;
- Wang, Guan;
- Malinsky, Fernanda Rossell;
- Karanikolou, Antonia;
- Eichhorn, Gregor;
- Tanisawa, Kumpei;
- Ospina-Betancurt, Jonathan;
- Hamilton, Blair;
- Kumi, Paulette Y.O.;
- Shurlock, Jonathan;
- Skiadas, Vasileios;
- Twycross-Lewis, Richard;
- Kilduff, Liam;
- Martin, Renan Paulo;
- Ash, Garrett I.;
- Potter, Cynthia;
- Guppy, Fergus M.;
- Seto, Jane T.;
- Fossati, Chiara
Publication type:
Article
Genetic contribution of caspase-8 variants and haplotypes to breast cancer risk and prognosis: a case-control study in Iran.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01484-0
By:
- Afzaljavan, Fahimeh;
- Vahednia, Elham;
- Barati Bagherabad, Matineh;
- Vakili, Fatemeh;
- Moezzi, Atefeh;
- Hosseini, Azar;
- Homaei Shandiz, Fatemeh;
- Kooshyar, Mohammad Mahdi;
- Nassiri, Mohammadreza;
- Pasdar, Alireza
Publication type:
Article
Establishment and verification of prognostic model and ceRNA network analysis for colorectal cancer liver metastasis.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01523-w
By:
- Zhang, Xuan;
- Wu, Tao;
- Zhou, Jinmei;
- Chen, Xiaoqiong;
- Dong, Chao;
- Guo, Zhangyou;
- Yang, Renfang;
- Liang, Rui;
- Feng, Qing;
- Hu, Ruixi;
- Li, Yunfeng;
- Ding, Rong
Publication type:
Article
A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01527-6
By:
- Pantou, Malena P.;
- Gourzi, Polyxeni;
- Vlagkouli, Vasiliki;
- Papatheodorou, Efstathios;
- Tsoutsinos, Alexandros;
- Nyktari, Eva;
- Degiannis, Dimitrios;
- Anastasakis, Aris
Publication type:
Article
A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01527-6
By:
- Pantou, Malena P.;
- Gourzi, Polyxeni;
- Vlagkouli, Vasiliki;
- Papatheodorou, Efstathios;
- Tsoutsinos, Alexandros;
- Nyktari, Eva;
- Degiannis, Dimitrios;
- Anastasakis, Aris
Publication type:
Article
Comprehensive analysis of a cuproptosis-related ceRNA network implicates a potential endocrine therapy resistance mechanism in ER-positive breast cancer.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01511-0
By:
- Zhang, Dongni;
- Lu, Wenping;
- Zhuo, Zhili;
- Wang, Yanan;
- Zhang, Weixuan;
- Zhang, Mengfan
Publication type:
Article
Comprehensive research into prognostic and immune signatures of transcription factor family in breast cancer.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01521-y
By:
- Wu, Qing;
- Zheng, Shiyao;
- Lin, Nan;
- Xie, Xianhe
Publication type:
Article
Causal effects of modifiable risk factors on kidney stones: a bidirectional mendelian randomization study.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01520-z
By:
- Liu, Wen;
- Wang, Miaomiao;
- Liu, Jianyong;
- Yan, Qiuxia;
- Liu, Ming
Publication type:
Article
Construction of a lipid metabolism-related and immune-associated prognostic score for gastric cancer.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01515-w
By:
- Dai, Jing;
- Li, Qiqing;
- Quan, Jun;
- Webb, Gunther;
- Liu, Juan;
- Gao, Kai
Publication type:
Article
Genetic liability to age at first sex and birth in relation to cardiovascular diseases: a Mendelian randomization study.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01496-w
By:
- Chen, Miao;
- Wang, Zhen;
- Xu, Hongfei;
- Chen, Xiaofang;
- Teng, Peng;
- Ma, Liang
Publication type:
Article
Evaluation of the possible association of PDCD-1 and LAG3 gene polymorphisms with hepatocellular carcinoma risk.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01526-7
By:
- Wei, Jiankai;
- Liao, Zhangxiu;
- Tao, Ying;
- Liu, Shuaiting
Publication type:
Article
Placental transcriptome analysis of hypertensive pregnancies identifies distinct gene expression profiles of preeclampsia superimposed on chronic hypertension.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01522-x
By:
- Hesson, Ashley M.;
- Langen, Elizabeth S.;
- Plazyo, Olesya;
- Gudjonsson, Johann E.;
- Ganesh, Santhi K.
Publication type:
Article
Identification and validation of immune-related biomarkers and potential regulators and therapeutic targets for diabetic kidney disease.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01519-6
By:
- Chen, Shengnan;
- Li, Bo;
- Chen, Lei;
- Jiang, Hongli
Publication type:
Article