Article
Biology
Hanzhi Zhang, Ching-Shin Huang, Xinchao Yu, Jonas Lee, Amit Vaish, Qing Chen, Mingyue Zhou, Zhulun Wang, Xiaoshan Min
Summary: The study presents the cryo-EM structure of ABC transporters ABCG5/G8 with Fab fragments from two monoclonal antibodies, providing insights into the transport cycle and potential therapeutic interventions. The high-resolution structure reveals a unique dimer interface and novel epitopes for potential therapeutic interventions.
COMMUNICATIONS BIOLOGY
(2021)
Article
Medicine, General & Internal
Hubert Wolski, Marcin Ozarowski, Grazyna Kurzawinska, Anna Bogacz, Marlena Wolek, Malgorzata Luszczynska, Krzysztof Drews, Aleksandra E. Mrozikiewicz, Przemyslaw L. Mikolajczak, Radoslaw Kujawski, Boguslaw Czerny, Tomasz M. Karpinski, Agnieszka Seremak-Mrozikiewicz
Summary: This study found significantly lower levels of LXRA mRNA and LXRA protein in the placenta of women with late-onset preeclampsia compared to healthy pregnant women. These nuclear receptors may play a role in the development of preeclampsia through disturbances of lipid metabolism.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Biochemistry & Molecular Biology
Anouar Hafiane, Ioanna Gianopoulos, Mary G. Sorci-Thomas, Stella S. Daskalopoulou
Summary: The primary function of HDL is to remove excess cellular free cholesterol and deliver it to the liver. Recent research has focused on the interaction between apoA-I and ABCA1 in HDL formation and its relevance in atherosclerotic cardiovascular disease. Understanding the key steps in HDL formation may have potential therapeutic implications for ASCVD management.
CURRENT OPINION IN LIPIDOLOGY
(2022)
Article
Endocrinology & Metabolism
Miwa Yamazaki, Masanobu Kawai, Saori Kinoshita, Kanako Tachikawa, Tatsuro Nakanishi, Keiichi Ozono, Toshimi Michigami
Summary: The deletion of Pit1 and Pit2 genes in osteoblastic cells resulted in reduced Pi uptake, accelerated mineralization, suppressed expression of osteogenic marker genes, and altered levels of extracellular and intracellular PPi and ATP. This suggests that Pit1 and Pit2 may play a crucial role in regulating skeletal cell function by mediating the availability of extracellular Pi.
Article
Gastroenterology & Hepatology
Paula M. Hertel, Laura N. Bull, Richard J. Thompson, Nathan P. Goodrich, Wen Ye, John C. Magee, Robert H. Squires, Lee M. Bass, James E. Heubi, Grace E. Kim, Sarangarajan Ranganathan, Kathleen B. Schwarz, Molly A. Bozic, Simon P. Horslen, Matthew S. Clifton, Yumirle P. Turmelle, Frederick J. Suchy, Riccardo A. Superina, Kasper S. Wang, Kathleen M. Loomes, Binita M. Kamath, Ronald J. Sokol, Benjamin L. Shneider
Summary: In this study, the analysis of monogenic forms of intrahepatic cholestasis revealed a potential association between BSEP deficiency and a more severe disease course. Symptoms in patients with FIC1 and BSEP deficiencies typically appeared before age 2, while the course of MDR3 deficiency was later and more variable.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
(2021)
Article
Biochemistry & Molecular Biology
Jiaxue Peng, Xiaomei Song, Fuyun Zhu, Chuan Zhang, Jiying Xia, Dezheng Zou, Jinfan Liu, Fei Yin, Li Yin, Hong Guo, Jianhui Liu
Summary: This study found that patients with Crohn's disease (CD) have significantly reduced levels of serum 25(OH)D3, while the protein level of adenosine triphosphate (ATP)-binding cassette efflux transporter G2 (ABCG2) is evidently increased. It was also found that the mRNA and protein levels of ABCG2 are significantly increased in LPS-treated CaCO2 cells. In addition, the protein levels of ABCG2 are significantly increased in TNBS-induced CD model mice. These findings suggest that VD deficiency in patients with CD may be associated with an abnormal increase in ABCG2 expression.
JOURNAL OF NUTRITIONAL BIOCHEMISTRY
(2023)
Article
Veterinary Sciences
Pan Hao, Kai-yue Song, Si-qi Wang, Xiao-jun Huang, Da-wei Yao, De-ji Yang
Summary: The majority of sporadic mammary tumors exhibit characteristics of MSI-Low or MSI-Stable, with genes associated with tumorigenesis more likely to develop microsatellite instability. ABCC9 protein and transcription abnormalities may be associated with ABCC9tetra instability.
FRONTIERS IN VETERINARY SCIENCE
(2022)
Article
Pharmacology & Pharmacy
Uchenna Modestus Ezugwu, Chinedum Charles Onyenekwe, Nkiruka Rose Ukibe, Joseph Eberendu Ahaneku, Christian Ejike Onah, Emmanuel Ifeanyi Obeagu, Paul Isaac Emeje, Joseph Chimezie Awalu, Gabriel Ejike Igbokwe
Summary: This study found significant changes in energy metabolism and expenditure in HIV-infected individuals, leading to negative energy balance. Testing levels of high-energy molecules such as ATP, ADP, GTP, and AMP can predict and manage energy imbalance in HIV-infected individuals.
JOURNAL OF PHARMACEUTICAL RESEARCH INTERNATIONAL
(2021)
Article
Endocrinology & Metabolism
Jaswinder Singh, Vikas Kumar, Ashish Aneja, Jasbir Singh
Summary: This study found that the polymorphism at positions G656A in the ABCA1 gene and G-250A in the LIPC gene are significantly associated with the development of T2DM in the North Indian population. However, the C69T variant of the ABCA1 gene showed no significant association with T2DM. Regression analysis showed that the ABCA1 variant G656A and LIPC variant G-250A are risk factors for T2DM in the North Indian population when adjusted for clinical/demographic variables.
INTERNATIONAL JOURNAL OF DIABETES IN DEVELOPING COUNTRIES
(2022)
Review
Medicine, General & Internal
Jin-Lian Jiang, Xia Liu, Zhong-Qin Pan, Xiao-Ling Jiang, Jun-Hua Shi, Ya Chen, Yu Yi, Wei-Wei Zhong, Kang-Yan Liu, Yi-Huai He
Summary: A patient with UGT1A1 and ABCB11 gene mutations developed aggravated jaundice after surgery, and whole-exon screening confirmed that postoperative cholestasis might be due to the gene mutations. When active medical treatment failed, a liver transplant may be the best option.
WORLD JOURNAL OF CLINICAL CASES
(2023)
Article
Neurosciences
Moe Soeda, Seii Ohka, Daisuke Nishizawa, Junko Hasegawa, Kyoko Nakayama, Yuko Ebata, Ken-ichi Fukuda, Kazutaka Ikeda
Summary: Genetic polymorphisms of SLC17A9 and P2RY12 genes are associated with the development of phantom tooth pain, indicating a role of genes in PTP.
Review
Biophysics
Dixon J. Woodbury, Emily Campbell Whitt, Robert E. Coffman
Summary: TNP-ATP, a fluorescently tagged ATP analog, has been widely used for detecting binding interactions of ATP to proteins and related parameter measurements. However, its use in protein binding studies is limited due to the potential enhancement of binding affinity by the TNP moiety. This review aims to provide a clear perspective on the pros and cons of using TNP-ATP for better experimental design and less ambiguous data in future research.
BIOPHYSICAL REPORTS
(2021)
Article
Cardiac & Cardiovascular Systems
Marianne Benn, Sarah C. W. Marott, Anne Tybjaerg-Hansen, Borge G. Nordestgaard
Summary: High BMI causally increases the risk of both heart failure incidence and mortality.
CARDIOVASCULAR RESEARCH
(2023)
Article
Clinical Neurology
Mie Balling, Borge G. Nordestgaard, Anette Varbo, Anne Langsted, Pia R. Kamstrup, Shoaib Afzal
Summary: This study explored the association between high levels of small dense low-density lipoprotein (sdLDL) and the risk of ischemic stroke in a large prospective study. The findings revealed a robust relationship between elevated sdLDL cholesterol levels and increased risk of ischemic stroke.
ANNALS OF NEUROLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Caroline A. Koch, Emilie W. Kjeldsen, Ruth Frikke-Schmidt
Summary: Due to the increasing environmental focus, plant-based diets are gaining popularity. A systematic review and meta-analysis were conducted to examine the effect of vegetarian and vegan diets on blood lipid levels. The results showed that plant-based diets can reduce total cholesterol, low-density lipoprotein cholesterol, and apolipoprotein B levels.
EUROPEAN HEART JOURNAL
(2023)
Review
Cardiac & Cardiovascular Systems
Ida Juul Rasmussen, Ruth Frikke-Schmidt
Summary: Dementia is a major global challenge, but 40% of cases can be prevented. Prevention measures, such as reducing cardiovascular risk factors, are crucial for reducing the incidence of dementia. Genome-wide association studies can be useful for identifying novel pathogenic pathways and high-risk individuals.
EUROPEAN HEART JOURNAL
(2023)
Article
Public, Environmental & Occupational Health
Liv Tybjaerg Nordestgaard, Mette Christoffersen, Shoaib Afzal, Borge Gronne Nordestgaard, Anne Tybjaerg-Hansen, Ruth Frikke-Schmidt
Summary: Genetic variants in ABCA1 associated with high HDL cholesterol concentrations are also associated with higher risk of AMD, suggesting a role for ABCA1 in AMD pathogenesis.
EUROPEAN JOURNAL OF EPIDEMIOLOGY
(2023)
Article
Hematology
Line Dam Heftdal, Sebastian Rask Hamm, Laura Perez-Alos, Johannes Roth Madsen, Jose Juan Almagro Armenteros, Kamille Fogh, Christoffer Cronwald Kronborg, Anders Pommer Vallentin, Rasmus Bo Hasselbalch, Dina Leth Moller, Cecilie Bo Hansen, Mia Pries-Heje, Anne Ortved Gang, Sisse Rye Ostrowski, Ruth Frikke-Schmidt, Erik Sorensen, Linda Hilsted, Henning Bundgaard, Kasper Iversen, Peter Garred, Susanne Dam Nielsen, Kirsten Gronbaek
Summary: The initial responses to COVID-19 vaccination are impaired in patients with blood cancers. This study examined the immune responses of patients with myeloid and lymphoid malignancies who received three or four doses of the BNT162b2 vaccine, compared to controls. Risk factors for humoral and cellular nonresponse one year after vaccination were also identified.
EUROPEAN JOURNAL OF HAEMATOLOGY
(2023)
Article
Clinical Neurology
Jonas L. Isaksen, Jonas Ghouse, Morten W. Skov, Morten S. Olesen, Anders G. Holst, Adrian Pietersen, Jonas B. Nielsen, Anja Maier, Claus Graff, Thomas A. Gerds, Ruth Frikke-Schmidt, Jorgen K. Kanters
Summary: By examining a large population, this study found that several common ECG markers are associated with Alzheimer's disease and can improve risk prediction.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2023)
Article
Gastroenterology & Hepatology
Helene Gellert-Kristensen, Anne Tybjaerg-Hansen, Borge G. Nordestgaard, Jonas Ghouse, Andreas Fuchs, Jorgen T. Kuhl, Per E. Sigvardsen, Klaus F. Kofoed, Stefan Stender
Summary: Observational epidemiological studies have shown that fatty liver disease is associated with higher all-cause mortality, liver-related mortality, ischemic heart disease-related mortality, and extrahepatic cancer-related mortality. In this genetic study, we found that seven genetic variants associated with fatty liver disease were significantly correlated with liver-related mortality. Using a Mendelian randomization framework, we further demonstrated that hepatic steatosis and elevated plasma ALT, as genetically determined factors, are associated with liver-related mortality.
LIVER INTERNATIONAL
(2023)
Article
Medicine, General & Internal
Jacob Louis Marott, Magnus T. Jensen, Marianne Benn, Martina Chantal de Knegt, James H. O'Keefe, Carl J. Lavie, Peter Schnohr, Berge Gronne Nordestgaard, Gorm Boje Jensen
Summary: This study aimed to test the hypothesis that the increased risk of atrial fibrillation in men compared with women is explained by height. The results showed that the higher risk of atrial fibrillation in men can indeed be explained by differences in height. The study also suggested that height is one of the most important risk factors for atrial fibrillation in both men and women.
MAYO CLINIC PROCEEDINGS
(2023)
Article
Cardiac & Cardiovascular Systems
Katrine L. Rasmussen, Jiao Luo, Borge G. Nordestgaard, Anne Tybjaerg-Hansen, Ruth Frikke-Schmidt
Summary: The structural genetic variations in the APOE gene are associated with vascular diseases. APOE variants with high apoE, triglycerides, and remnant cholesterol are associated with peripheral arterial disease (PAD), while common APOE variants with high LDL cholesterol, triglycerides, and remnant cholesterol are associated with ischemic heart disease (IHD). APOE variants with low apoE are associated with increased risk of ischemic cerebrovascular disease (ICVD).
Article
Cardiac & Cardiovascular Systems
Nawar Dalila, Ruth Frikke-Schmidt, Borge G. Nordestgaard, Anne Tybjaerg-Hansen
Summary: This study found that low levels of thyroid stimulating hormone (TSH) are associated with increased risk of cardiovascular diseases (such as atrial fibrillation, myocardial infarction, stroke) both observationally and genetically. These findings suggest a potential causal relationship.
Review
Peripheral Vascular Disease
Takahito Doi, Anne Langsted, Borge G. Nordestgaard
Summary: East Asia has a significant population and ischemic heart disease is a major cause of death in this region. However, the evidence on lipoproteins and lipoprotein cholesterol with risk of ASCVD mainly comes from White people in Europe and North America, lacking representation of East Asian populations. Understanding the association between lipoproteins and lipoprotein cholesterol with risk of ASCVD in East Asia is important for both East Asian and non-East Asian populations worldwide.
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS
(2023)
Article
Endocrinology & Metabolism
Berit Storgaard Hedegaard, Borge Gronne Nordestgaard, Helle Lynge Kanstrup, Kristian Korsgaard Thomsen, Jan Bech, Lia Evi Bang, Finn Lund Henriksen, Lars Juel Andersen, Thomas Gohr, Linnea Hornbech Larsen, Anne Merete Boas Soja, Frank-Peter Elpert, Tomas Joen Jakobsen, Anette Sjol, Albert Marni Joensen, Ib Christian Klausen, Erik Berg Schmidt, Christian Sorensen Bork
Summary: This study investigated the presence of lipoprotein(a) in individuals referred to Danish lipid clinics and found that elevated lipoprotein(a) played a role in a quarter of individuals who met the diagnosis criteria for clinical familial hypercholesterolemia (FH).
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Oncology
Pooja K. Middha, Xiaoliang Wang, Sabine Behrens, Manjeet K. Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Thomas U. Ahearn, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J. Aronson, Paul L. Auer, Annelie Augustinsson, Thais Baert, Laura E. Beane Freeman, Heiko Becher, Matthias W. Beckmann, Javier Benitez, Stig E. Bojesen, Hiltrud Brauch, Hermann Brenner, Angela Brooks-Wilson, Daniele Campa, Federico Canzian, Angel Carracedo, Jose E. Castelao, Stephen J. Chanock, Georgia Chenevix-Trench, Emilie Cordina-Duverger, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Laure Dossus, Pierre-Antoine Dugue, A. Heather Eliassen, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, Marike Gabrielson, Manuela Gago-Dominguez, Graham G. Giles, Anna Gonzalez-Neira, Felix Grassmann, Anne Grundy, Pascal Guenel, Christopher A. Haiman, Niclas Hakansson, Per Hall, Ute Hamann, Susan E. Hankinson, Elaine F. Harkness, Bernd Holleczek, Reiner Hoppe, John L. Hopper, Richard S. Houlston, Anthony Howell, David J. Hunter, Christian Ingvar, Karolin Isaksson, Helena Jernstroem, Esther M. John, Michael E. Jones, Rudolf Kaaks, Renske Keeman, Cari M. Kitahara, Yon-Dschun Ko, Stella Koutros, Allison W. Kurian, James V. Lacey, Diether Lambrechts, Nicole L. Larson, Susanna Larsson, Loic Le Marchand, Flavio Lejbkowicz, Shuai Li, Martha Linet, Jolanta Lissowska, Maria Elena Martinez, Tabea Maurer, Anna Marie Mulligan, Claire Mulot, Rachel A. Murphy, William G. Newman, Sune F. Nielsen, Borge G. Nordestgaard, Aaron Norman, Katie M. O'Brien, Janet E. Olson, Alpa V. Patel, Ross Prentice, Erika Rees-Punia, Gad Rennert, Valerie Rhenius, Kathryn J. Ruddy, Dale P. Sandler, Christopher G. Scott, Mitul T. Shah, Xiao-Ou Shu, Ann Smeets, Melissa C. Southey, Jennifer Stone, Rulla M. Tamimi, Jack A. Taylor, Lauren R. Teras, Katarzyna Tomczyk, Melissa A. Troester, Therese Truong, Celine M. Vachon, Sophia S. Wang, Clarice R. Weinberg, Hans Wildiers, Walter Willett, Stacey J. Winham, Alicja Wolk, Xiaohong Yang, M. Pilar Zamora, Wei Zheng, Argyrios Ziogas, Alison M. Dunning, Paul D. P. Pharoah, Montserrat Garcia-Closas, Marjanka K. Schmidt, Peter Kraft, Roger L. Milne, Sara Lindstroem, Douglas F. Easton, Jenny Chang-Claude
Summary: A genome-wide study identified two independent SNP-risk factor pairs associated with breast cancer risk and estrogen receptor positive (ER +) breast cancer risk. Overall, gene-environment interactions have a very small contribution to the heritability of breast cancer. At the population level, these interactions do not significantly contribute to risk prediction for breast cancer.
BREAST CANCER RESEARCH
(2023)
Article
Cardiac & Cardiovascular Systems
Jiao Luo, Jesper Qvist Thomassen, Borge G. Nordestgaard, Anne Tybjaerg-Hansen, Ruth Frikke-Schmidt
Summary: This study investigated the associations between neutrophil counts and nine cardiovascular endpoints using observational and genetic approaches. The results showed that high neutrophil counts were associated with an increased risk of all cardiovascular outcomes. Genetic studies also supported this finding. No robust associations were found for other types of leukocytes in the two-sample MR analysis.
EUROPEAN HEART JOURNAL
(2023)