Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 266 Records) |
| Query Trace: Hypercholesterolemia and LDLR[original query] |
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| LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients. Gene 2022 12 853 147084. Barbosa Thais Kristini Almendros, Hirata Rosario Dominguez Crespo, Ferreira Glaucio Monteiro, Borges Jéssica Bassani, Oliveira Victor Fernandes de, Gorjão Renata, Marçal Elisangela Rodrigues da Silva, Gonçalves Rodrigo Marques, Faludi André Arpad, Freitas Renata Caroline Costa de, Dagli-Hernandez Carolina, Bortolin Raul Hernandes, Bastos Gisele Medeiros, Pithon-Curi Tania Cristina, Nader Helena Bonciani, Hirata Mario Hiroyu |
| Analysis of Clinical and Biochemical Characteristics of Patients With Genetically Confirmed Familial Hypercholesterolemia in Russian North Western District Residents. Kardiologiia 2022 12 62 (11): 33-39. Korneva V A, Zacharova F M, Mandelstam M Yu, Bogoslovskaya T Yu, Orlov A V, Vasilyev V B, Kuznetsova T |
| [Analysis of clinical phenotypes and variants of LDLR gene in two Chinese patients with familial hypercholesterolemia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 12 39 (12): 1344-1348. Wang Kexin, Sun Tao, Zhang Xiaoping, Zhang Yahui, Gao Hai, Ren Yanlong, Li Xiaoy |
| Improvement of Definite Diagnosis of Familial Hypercholesterolemia Using an Expanding Genetic Analysis. JACC. Asia 2022 11 1 (1): 82-89. Cao Ye-Xuan, Sun Di, Liu Hui-Hui, Jin Jing-Lu, Li Sha, Guo Yuan-Lin, Wu Na-Qiong, Zhu Cheng-Gang, Liu Geng, Dong Qian, Sun Jing, Chen Xie-Hui, Li Jian-J |
| Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia. iScience 2022 11 25 (11): 105334. Du Zhiyong, Li Fan, Li Linyi, Wang Yu, Li Jianping, Yang Ya, Jiang Long, Wang Luya, Qin Yanw |
| An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention. HGG advances 2022 10 3 (4): 100118. Jørsboe Emil, Andersen Mette K, Skotte Line, Stæger Frederik F, Færgeman Nils J, Hanghøj Kristian, Santander Cindy G, Senftleber Ninna K, Diaz Lars J, Overvad Maria, Waples Ryan K, Geller Frank, Bjerregaard Peter, Melbye Mads, Larsen Christina V L, Feenstra Bjarke, Anders Koch , Jørgensen Marit E, Grarup Niels, Moltke Ida, Albrechtsen Anders, Hansen Torb |
| Impact of variants of uncertain significance of LDL receptor on phenotypes of familial hypercholesterolemia. Journal of clinical lipidology 2022 Sep . Tada Hayato, Kojima Nobuko, Yamagami Kan, Nomura Akihiro, Nohara Atsushi, Usui Soichiro, Sakata Kenji, Hayashi Kenshi, Fujino Noboru, Takamura Masayuki, Kawashiri Masa-A |
| Gene Sequencing Identifies Perturbation in Nitric Oxide Signaling as a Nonlipid Molecular Subtype of Coronary Artery Disease. Circulation. Genomic and precision medicine 2022 Oct 101161CIRCGEN121003598. Khera Amit V, Wang Minxian, Chaffin Mark, Emdin Connor A, Samani Nilesh J, Schunkert Heribert, Watkins Hugh, McPherson Ruth, Erdmann Jeanette, Elosua Roberto, Boerwinkle Eric, Ardissino Diego, Butterworth Adam S, Di Angelantonio Emanuele, Naheed Aliya, Danesh John, Chowdhury Rajiv, Krumholz Harlan M, Sheu Wayne H-H, Rich Stephen S, Rotter Jerome I, Chen Yii-der Ida, Gabriel Stacey, Lander Eric S, Saleheen Danish, Kathiresan Sek |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Clinical Evaluation of Patients with Genetically Confirmed Familial Hypercholesterolemia. Journal of clinical medicine 2023 2 12 (3): . Aparicio Andrea, Villazón Francisco, Suárez-Gutiérrez Lorena, Gómez Juan, Martínez-Faedo Ceferino, Méndez-Torre Edelmiro, Avanzas Pablo, Álvarez-Velasco Rut, Cuesta-Llavona Elías, García-Lago Claudia, Neuhalfen David, Coto Eliecer, Lorca Rebe |
| 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 |
| Association of CELSR2, APOB100, ABCG5/8, LDLR, and APOE polymorphisms and their genetic risks with lipids among the Thai subjects. Saudi journal of biological sciences 2023 1 30 (2): 103554. Nuinoon Manit, Saiphak Wutthichai, Nawaka Nantiya, Rattanawan Chutima, Pussadhamma Burabha, Jeenduang Nutjar |
| Targeted sequencing of a gene panel in patients with Familial Hypercholesterolemia from Southern Poland. Polish archives of internal medicine 2023 1 . Toto?-?ura?ska Justyna, Wo?kow Pawe?, Kapusta Maria, Wójcik Ma?gorzata, Starzyk Jerzy, Kawalec Ewa, Idzior-Walu? Barbara, Walu?-Miarka Ma?gorza |
| Novel protein-truncating variant in the APOB gene may protect from coronary artery disease and adverse cardiovascular events. Atherosclerosis plus 2023 1 49 42-46. Mango Gabriele, Osti Nicola, Udali Silvia, Vareschi Anna, Malerba Giovanni, Giorgetti Alejandro, Pizzolo Francesca, Friso Simonetta, Girelli Domenico, Olivieri Oliviero, Castagna Annalisa, Martinelli Nico |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 01, 2023
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