Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 534 Records) |
Query Trace: LDLR[original query] |
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Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia. Circulation. Genomic and precision medicine 2023 9 e004103. Shirin Ibrahim, Jeroen van Rooij, Annemieke J M H Verkerk, Jard de Vries, Linda Zuurbier, Joep Defesche, Jorge Peter, Willemijn A M Schonck, Bahar Sedaghati-Khayat, G Kees Hovingh, André G Uitterlinden, Erik S G Stroes, Laurens F Reeska |
LDLR and PCSK9 3´UTR variants and their putative effects on microRNA molecular interactions in familial hypercholesterolemia: a computational approach. Molecular biology reports 2023 9 . Renata Caroline Costa de Freitas, Raul Hernandes Bortolin, Jessica Bassani Borges, Victor Fernandes de Oliveira, Carolina Dagli-Hernandez, Elisangela da Silva Rodrigues Marçal, Gisele Medeiros Bastos, Rodrigo Marques Gonçalves, Andre Arpad Faludi, Vivian Nogueira Silbiger, André Ducati Luchessi, Rosario Dominguez Crespo Hirata, Mario Hiroyuki Hira |
Effects of LDLR variants rs5928, rs750518671 and rs879254797 on protein structure and functional activity in HepG2 cells transfected with CRISPR/Cas9 constructs. Gene 2023 9 147821. Augusto Akira Mori, Vanessa Barbosa Malaquias, Kennedy Bonjour, Glaucio Monteiro Ferreira, Raul Hernandes Bortolin, Jéssica Bassani Borges, Victor Fernandes de Oliveira, Rodrigo Marques Gonçalves, Andre Arpad Faludi, Gisele Monteiro Bastos, Helena Thurow, Marcelo Ferraz Sampaio, Rozana Mesquita Ciconelli, Adriano Namo Cury, Cristina Moreno Fajardo, Rosario Dominguez Crespo Hirata, Mário Hiroyuki Hira |
Amplified Risk of Intracranial Artery Stenosis/Occlusion Associated With RNF213 p.R4810K in Familial Hypercholesterolemia. JACC. Asia 2023 8 3 (4): 625-633. Kotaro Noda, Yorito Hattori, Mika Hori, Yuriko Nakaoku, Akito Tanaka, Takeshi Yoshimoto, Kunihiro Nishimura, Takanori Yokota, Mariko Harada-Shiba, Masafumi Iha |
Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study. CMAJ open 2023 8 11 (4): E754-E764. Amanda Guerin, Iulia Iatan, Isabelle Ruel, Linda Fri Ngufor, Jacques Gene |
Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing. Journal of clinical medicine 2023 8 12 (15): . Gustavs Latkovskis, Raimonds Rescenko-Krums, Georgijs Nesterovics, Monta Briviba, Vita Saripo, Dainus Gilis, Elizabete Terauda, Ruta Meiere, Gunda Skudrina, Andrejs Erglis, Joana Rita Chora, Mafalda Bourbon, Janis Klovi |
Correlations of PCSK9 and LDLR gene polymorphisms as well as serum PCSK9 levels with atherosclerosis and lipid metabolism in maintenance hemodialysis patients. Journal of clinical pharmacology 2023 8 . Jun Cui, Yuxiang Qiu, Ningsu Kang, Jianxun Lu, Lu Zhe |
Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL-C and LPA genetic scores. Clinical genetics 2023 7 . Gunda Schwaninger, Lukas Forer, Christoph Ebenbichler, Hans Dieplinger, Florian Kronenberg, Johannes Zschocke, Martina Witsch-Baumgartn |
Association between the use of lipid-lowering drugs and the risk of inflammatory bowel disease. European journal of clinical investigation 2023 7 e14067. Xuxu Liu, Zhenyi Lv, Zhihong Xie, Qiang Wang, Wenchao Yao, Jingjing Yu, Qingxu Jing, Xianzhi Meng, Biao Ma, Dongbo Xue, Chenjun H |
Large-Scale CRISPR Screen of LDLR Pathogenic Variants. Research (Washington, D.C.) 2023 7 6 0203. Mengjing Li, Lerong Ma, Yiwu Chen, Jianing Li, Yanbing Wang, Wenni You, Hongming Yuan, Xiaochun Tang, Hongsheng Ouyang, Daxin Pa |
Detrimental effects of PCSK9 loss-of-function in the pediatric host response to sepsis are mediated through independent influence on Angiopoietin-1. Critical care (London, England) 2023 6 27 (1): 250. Mihir R Atreya, Natalie Z Cvijanovich, Julie C Fitzgerald, Scott L Weiss, Michael T Bigham, Parag N Jain, Adam J Schwarz, Riad Lutfi, Jeffrey Nowak, Geoffrey L Allen, Neal J Thomas, Jocelyn R Grunwell, Torrey Baines, Michael Quasney, Bereketeab Haileselassie, Matthew N Alder, Patrick Lahni, Scarlett Ripberger, Adesuwa Ekunwe, Kyle R Campbell, Keith R Walley, Stephen W Standa |
Genetic Testing Enables the Diagnosis of Familial Hypercholesterolemia Underdiagnosed by Clinical Criteria: Analysis of Japanese Early-Onset Coronary Artery Disease Patients. Cardiology research and practice 2023 5 2023 2236422. Hiroshi Miyama, Yoshinori Katsumata, Mizuki Momoi, Genki Ichihara, Taishi Fujisawa, Jin Endo, Takashi Kawakami, Masaharu Kataoka, Shinsuke Yuasa, Motoaki Sano, Kazuki Sato, Keiichi Fuku |
Apolipoprotein E genetic variation, atherogenic index and cardiovascular disease risk assessment in an African population: An analysis of HIV and malaria patients in Ghana. PloS one 2023 5 18 (5): e0284697. Nicholas Ekow Thomford, Akwasi Anyanful, Richmond Owusu Ateko, Dee Blackhurst, Robert Peter Biney, Dennis Boadi, Samuel Badu Nyarko, Martins Ekor, George Boateng Ky |
Post-Traumatic Stress Disorder Is Associated with Elevated Plasma Cholesterol in Female TT Homozygotes of LDLR rs5925. International journal of molecular sciences 2023 5 24 (10): . Jinhua Wang, Kexin Jia, Qiwei Guo, Junyi Liu, Jiajing Cai, Yilin Shen, Guoming Su, Xu Chen, Jia Lin, Dingzhi Fa |
Cholesterol contributes to risk, severity, and machine learning-driven diagnosis of Lyme disease. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2023 5 . Iain S Forrest, Anya J O'Neal, Joao H F Pedra, Ron |
Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing. Gene 2023 5 875 147501. Jéssica Bassani Borges, Victor Fernandes Oliveira, Carolina Dagli-Hernandez, Glaucio Monteiro Ferreira, Thais Kristini Almendros Afonso Barbosa, Elisangela da Silva Rodrigues Marçal, Bruna Los, Vanessa Barbosa Malaquias, Raul Hernandes Bortolin, Renata Caroline Costa Freitas, Augusto Akira Mori, Gisele Medeiros Bastos, Rodrigo Marques Gonçalves, Daniel Branco Araújo, Henry Zatz, Adriana Bertolami, André Arpad Faludi, Marcelo Chiara Bertolami, Amanda Guerra de Moraes Rego Souza, João Ítalo Dias França, Helena Strelow Thurow, Thiago Dominguez Crespo Hirata, Helder Takashi Imoto Nakaya, Cinthia Elim Jannes, Alexandre da Costa Pereira, Vivian Nogueira Silbiger, André Ducati Luchessi, Jéssica Nayara Góes Araújo, Marcelo Arruda Nakazone, Tayanne Silva Carmo, Dorotéia Rossi Silva Souza, Patricia Moriel, Jaqueline Yu Ting Wang, Michel Satya Naslavsky, Renata Gorjão, Tania Cristina Pithon-Curi, Rui Curi, Cristina Moreno Fajardo, Hui-Tzu Lin Wang, Adriana Regina Garófalo, Alvaro Cerda, Marcelo Ferraz Sampaio, Rosario Dominguez Crespo Hirata, Mario Hiroyuki Hira |
Genetically instrumented LDL-cholesterol lowering and multiple disease outcomes: a Mendelian randomisation phenome-wide association study in the UK Biobank. British journal of clinical pharmacology 2023 5 . Kitty Pham, Anwar Mulugeta, Amanda Lumsden, Elina Hypp?n |
Dynamics of the personalities of PCSK9 on missense variants (rs505151 and rs562556) from elderly cohort studies in Brazil. Journal of biomolecular structure & dynamics 2023 4 1-9. Galvão Lopes Vitor, Fernandes de Oliveira Victor, Mendonça Munhoz Dati Livia, Naslavsky Michel Satya, Ferreira Glaucio Monteiro, Hirata Mario Hiroyu |
Identification and Functional Analysis of APOB Variants in a Cohort of Hypercholesterolemic Patients. International journal of molecular sciences 2023 4 24 (8): . Carmen Rodríguez-Jiménez, Gema de la Peña, Javier Sanguino, Sara Poyatos-Peláez, Ana Carazo, Pedro L Martínez-Hernández, Francisco Arrieta, José M Mostaza, Diego Gómez-Coronado, Sonia Rodríguez-Nóv |
Role of low-density lipoprotein receptor rs5925 (1959C>T) gene polymorphism in pathogenesis of dyslipidemia among Egyptian lupus nephritis patients. Archives of rheumatology 2023 3 37 (4): 584-592. Alsabbagh Yumn A, Ahmed Saher A, Salama Heba E, Abd-Elmawla Mai A, Elgendy Hala |
Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia. Circulation. Genomic and precision medicine 2023 3 e003887. Chaudhry Ahsen, Trinder Mark, Vesely Kristin, Cermakova Lubomira, Jackson Linda, Wang Jian, Hegele Robert A, Brunham Liam |
Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION. International journal of molecular sciences 2023 3 24 (5): . Nazarenko Maria S, Sleptcov Aleksei A, Zarubin Aleksei A, Salakhov Ramil R, Shevchenko Alexander I, Tmoyan Narek A, Elisaphenko Eugeny A, Zubkova Ekaterina S, Zheltysheva Nina V, Ezhov Marat V, Kukharchuk Valery V, Parfyonova Yelena V, Zakian Suren M, Zakharova Irina |
Transcript-aware analysis of rare predicted loss-of-function variants in the UK Biobank elucidate new isoform-trait associations. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2023 12 29 247-260. Rachel A Hoffing, Aimee M Deaton, Aaron M Holleman, Lynne Krohn, Philip J LoGerfo, Mollie E Plekan, Sebastian Akle Serrano, Paul Nioi, Lucas D Wa |
Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population. Journal of human genetics 2023 12 . Li Shan Chen, Cheng Wei Yu, Wei Jiun Li, Wen Chi Hsieh, Yi Ping |
Unravelling the genetic background of individuals with a clinical Familial Hypercholesterolemia phenotype. Journal of lipid research 2023 12 100490. Ana Margarida Medeiros, Ana Catarina Alves, Beatriz Miranda, Joana Rita Chora, Mafalda Bourbon, |
Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning. Vavilovskii zhurnal genetiki i selektsii 2023 10 27 (5): 522-529. D E Ivanoshchuk, A B Kolker, O V Timoshchenko, S E Semaev, E V Shakhtshneid |
Genetic backgrounds and diagnosis of familial hypercholesterolemia. Clinical genetics 2023 10 . Joanna Rogozik, Renata G?ówczy?ska, Marcin Grabows |
Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease. Atherosclerosis 2023 10 117327. Nella Junna, Sanni Ruotsalainen, Pietari Ripatti, FinnGen, Samuli Ripatti, Elisabeth Wid |
Rare copy-number variants as modulators of common disease susceptibility. Genome medicine 2024 1 16 (1): 5. Chiara Auwerx, Maarja Jõeloo, Marie C Sadler, Nicolò Tesio, Sven Ojavee, Charlie J Clark, Reedik Mägi, , Alexandre Reymond, Zoltán Kutal |
Genetic Determinants of Selenium Availability, Selenium-Response, and Risk of Polycystic Ovary Syndrome. Biological trace element research 2024 1 . Priya Sharma, Preeti Khetarp |
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- Page last updated:Apr 16, 2024
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