Article
Oncology
Emily J. Anstadt, Brian Chu, Nikhil Yegya-Raman, Xiaoyan Han, Abigail Doucette, Kendra Poirier, Jahan J. Mohiuddin, Amit Maity, Andrea Facciabene, Ravi K. Amaravadi, Giorgos C. Karakousis, Justine Cohen, Tara C. Mitchell, Lynn M. Schuchter, John N. Lukens
Summary: This study suggests that moderate colitis is associated with improved overall survival in patients with stage IV melanoma treated with single-agent anti-CTLA4 therapy, but not in those receiving dual-agent therapy. This correlation is independent of whether immune checkpoint blockade therapy is permanently discontinued.
Article
Rheumatology
Jens Rathmann, Pavlos Stamatis, Goran Jonsson, Martin Englund, Marten Segelmark, David Jayne, Aladdin J. Mohammad
Summary: Respiratory tract infections are positively associated with the development of MPO-ANCA vasculitis, but not with PR3-ANCA vasculitis. Prior infection is associated with higher disease activity at the time of AAV diagnosis, but does not have a significant impact on disease characteristics, comorbidities or outcome.
Article
Biology
Balewgizie S. Tegegne, M. Abdullah Said, Alireza Ani, Arie M. van Roon, Sonia Shah, Eco J. C. de Geus, Pim van der Harst, Harriette Riese, Ilja M. Nolte, Harold Snieder
Summary: This study identified 17 genetic variants associated with HRV traits, including 8 previously unreported loci. Additionally, lower HRV was associated with increased mortality risk. However, genetically predicted HRV was not associated with mortality.
COMMUNICATIONS BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Lei Xu, Qi-Xin Wu, Xue Li, Yu-Jing Fang, Ruo-Lin Zhou, Meng-Meng Che, Ting Ma, Cai-Xia Zhang
Summary: This study found a significant inverse association between serum FMN and colorectal cancer risk, while serum riboflavin or vitamin B-2 sum was not associated with colorectal cancer risk. Individuals with a lower PLP level or an adequate folate level could be more sensitive to the protective role of vitamin B-2.
Article
Biochemistry & Molecular Biology
Tomasz Budlewski, Joanna Sarnik, Grzegorz Galita, Grzegorz Dragan, Olga Brzezinska, Marta Poplawska, Tomasz Poplawski, Joanna Makowska
Summary: The polymorphisms of PADI4, PTPN22, and STAT4 genes have been detected in the Polish population, which are also known risk factors for rheumatoid arthritis (RA) in various other populations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Anne Tuengler, Sandra Van der Auwera, Katharina Wittfeld, Stefan Frenzel, Jan Terock, Nele Roeder, Georg Homuth, Henry Voelzke, Robin Buelow, Hans Joergen Grabe, Deborah Janowitz
Summary: The study found that increased BMI was associated with decreased brain parameters, particularly in the orbitofrontal cortex and anterior cingulate-medial prefrontal cortex. Genetic predisposition for BMI did not have an effect on brain parameters. The interaction between genetic score for BMI and brain parameters did not affect BMI at baseline. These results suggest that metabolic mechanisms may underlie the relationship between obesity and altered brain structure.
SCIENTIFIC REPORTS
(2021)
Article
Surgery
Timm Heinbokel, Markus Quante, Jasper Iske, Yeqi Nian, Ryoichi Maenosono, Koichiro Minami, Yang Liu, Haruhito Azuma, Abdallah Elkhal, Stefan G. Tullius
Summary: Elderly organ transplant recipients have shown reduced effectiveness of CTLA4-Ig treatment compared to young recipients, likely due to decreased CD28 expression in CD4(+)T cells and altered regulation of regulatory T cells (Tregs) with aging. These differences may have unique clinical implications for immunosuppression in elderly transplant recipients.
AMERICAN JOURNAL OF TRANSPLANTATION
(2021)
Article
Clinical Neurology
Ernst Mayerhofer, Rainer Malik, Livia Parodi, Stephen Burgess, Andreas Harloff, Martin Dichgans, Jonathan Rosand, Christopher D. Anderson, Marios K. Georgakis
Summary: Mayerhofer et al. found that genetic factors affecting the response to statins are associated with the risk of intracerebral hemorrhage. The study suggests that statin-induced low lipid levels may increase the risk of intracerebral hemorrhage. These findings provide important insights into the personalized response to statin intake and the role of pharmacological lipid lowering in the pathogenesis of intracerebral hemorrhage.
Article
Genetics & Heredity
Saleh A. Alghamdi, Shahad W. Kattan, Eman A. Toraih, Majed G. Alrowaili, Manal S. Fawzy, Rami M. Elshazli
Summary: The study revealed a significant protective effect of the AIRE (rs2075876) variant against SLE, while the CTLA4 (rs231775) variant was not associated with an increased risk of the disease.
Article
Endocrinology & Metabolism
Latoya A. Stewart, Gabrielle K. Steinl, Bernice L. Huang, Catherine McManus, James A. Lee, Jennifer H. Kuo, Marcella D. Walker
Summary: In a retrospective cross-sectional study comparing cardiac conduction in patients with primary hyperparathyroidism (PHPT) or thyroid disease (TD), it was found that PHPT patients had shorter QTc intervals compared to TD controls. However, there was no significant difference in the prevalence of arrhythmia between the two groups.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Orthopedics
J. Zhou, C. Liu, Y. Sun, M. Francis, M. S. Ryu, A. Grider, K. Ye
Summary: Genetically determined copper and zinc status were positively associated with osteoarthritis, particularly increasing the risk of localized OA, while an increase in calcium levels decreased the risk of localized OA.
OSTEOARTHRITIS AND CARTILAGE
(2021)
Article
Geriatrics & Gerontology
Niki Mourtzi, Mariosk Georgakis, Eva Ntanasi, Alexandros Hatzimanolis, Alfredo Ramirez, Stephanie Heilmann-Heimbach, Benjamin Grenier-Boley, Jeanc Lambert, Mary Yannakoulia, Mary Kosmidis, Efthimios Dardiotis, Giorgos Hadjigeorgiou, Paraskevi Sakka, Nikolaos Scarmeas
Summary: This study found a potential causal effect of IL-6 signaling on frailty, with downregulation of IL-6 levels associated with a reduced risk of frailty. The results support the critical role of IL-6 pathway in frailty pathogenesis.
Article
Immunology
Deanna J. Friedman-Klabanoff, Meagan C. Fitzpatrick, Meagan E. Deming, Vaidehi Agrawal, Sandra Sitar, Torin Schaafsma, Elizabeth Brown, Kathleen M. Neuzil, Ruanne Barnabas, Miriam K. Laufer
Summary: In this study, increased exposure to SARS-CoV-2 within household or healthcare settings led to a higher risk of infection, but higher community incidence did not. This highlights the importance of interventions to reduce transmission in close contact settings.
JOURNAL OF INFECTIOUS DISEASES
(2022)
Article
Ecology
Frederik Mortier, Stefano Masier, Dries Bonte
Summary: Genetic diversity has differing effects on population size and spread rate in benign and challenging habitats, with no impact on population size in benign habitats but an increase in challenging habitats. However, genetic diversity does increase population spread rates in benign habitats. Populations with low genetic diversity show higher variance in spread, particularly in challenging habitats. This challenges the common view that genetic bottleneck limits invasion success in challenging environments.
Article
Nutrition & Dietetics
Muhammed Tunc, Pinar Soysal, Ozge Pasin, Lee Smith, Masoud Rahmati, Veliye Yigitalp, Sevnaz Sahin, Moustapha Drame
Summary: The aim of this study was to investigate the relationship between serum magnesium levels and insomnia and excessive daytime sleepiness (EDS) in older adults. It found that hypomagnesemia was associated with a higher prevalence of EDS but not insomnia in older outpatients. Other health conditions such as hypertension and diabetes mellitus were also more common in the hypomagnesemia group. These findings suggest that hypomagnesemia should be considered when evaluating older adults with EDS.
Correction
Biochemistry & Molecular Biology
Ilaria Palmisano, Paola Bagnato, Angela Palmigiano, Giulio Innamorati, Giuseppe Rotondo, Domenico Altimare, Consuelo Venturi, Elena V. Sviderskaya, Rosanna Piccirillo, Massimiliano Coppola, Valeria Marigo, Barbara Incerti, Andrea Ballabio, Enrico M. Surace, Carlo Tacchetti, Dorothy C. Bennett, Maria Vittoria Schiaffino
HUMAN MOLECULAR GENETICS
(2017)
Letter
Dermatology
Jaskaren S. Kohli, Elena Tolomio, Simona Frigerio, Andrea Maurichi, Monica Rodolfo, Dorothy C. Bennett
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2017)
Article
Genetics & Heredity
Claire J. Cairney, Lauren S. Godwin, Alan E. Bilsland, Sharon Burns, Katrina H. Stevenson, Lynn McGarry, John Revie, Jon D. Moore, Ceri M. Wiggins, Rebecca S. Collinson, Clare Mudd, Elpida Tsonou, Mahito Sadaie, Dorothy C. Bennett, Masashi Narita, Christopher J. Torrance, W. Nicol Keith
Article
Oncology
Barbara Hernando, Viki B. Swope, Steven Guard, Renny J. Starner, Kevin Choi, Ayesha Anwar, Pamela Cassidy, Sancy Leachman, Ana Luisa Kadekaro, Dorothy C. Bennett, Zalfa A. Abdel-Malek
PIGMENT CELL & MELANOMA RESEARCH
(2019)
Article
Clinical Neurology
Emma J. Norton, Leslie R. Bridges, Lawrence C. Kenyon, Margaret M. Esiri, Dorothy C. Bennett, Atticus H. Hainsworth
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2019)
Review
Biochemistry & Molecular Biology
Vassilis Gorgoulis, Peter D. Adams, Andrea Alimonti, Dorothy C. Bennett, Oliver Bischof, Cleo Bishop, Judith Campisi, Manuel Collado, Konstantinos Evangelou, Gerardo Ferbeyre, Jesus Gil, Eiji Hara, Valery Krizhanovsky, Diana Jurk, Andrea B. Maier, Masashi Narita, Laura Niedernhofer, Joao F. Passos, Paul D. Robbins, Clemens A. Schmitt, John Sedivy, Konstantinos Vougas, Thomas von Zglinicki, Daohong Zhou, Manuel Serrano, Marco Demaria
Article
Oncology
Andrea Maurichi, Rosalba Miceli, Hanna Eriksson, Julia Newton-Bishop, Jeremie Nsengimana, May Chan, Andrew J. Hayes, Kara Heelan, David Adams, Roberto Patuzzo, Francesco Barretta, Gianfranco Gallino, Catherine Harwood, Daniele Bergamaschi, Dorothy Bennett, Konstantinos Lasithiotakis, Paola Ghiorzo, Bruna Dalmasso, Ausilia Manganoni, Francesca Consoli, Ilaria Mattavelli, Consuelo Barbieri, Andrea Leva, Umberto Cortinovis, Vittoria Espeli, Cristina Mangas, Pietro Quaglino, Simone Ribero, Paolo Broganelli, Giovanni Pellacani, Caterina Longo, Corrado Del Forno, Lorenzo Borgognoni, Serena Sestini, Nicola Pimpinelli, Sara Fortunato, Alessandra Chiarugi, Paolo Nardini, Elena Morittu, Antonio Florita, Mara Cossa, Barbara Valeri, Massimo Milione, Giancarlo Pruneri, Odysseas Zoras, Andrea Anichini, Roberta Mortarini, Mario Santinami
JOURNAL OF CLINICAL ONCOLOGY
(2020)
Letter
Oncology
Andrea Maurichi, Rosalba Miceli, Hanna Eriksson, Julia Newton-Bishop, Jeremie Nsengimana, May Chan, Andrew J. Hayes, Kara Heelan, David Adams, Roberto Patuzzo, Francesco Barretta, Gianfranco Gallino, Catherine Harwood, Daniele Bergamaschi, Dorothy Bennett, Konstantinos Lasithiotakis, Paola Ghiorzo, Bruna Dalmasso, Ausilia Manganoni, Francesca Consoli, Ilaria Mattavelli, Consuelo Barbieri, Andrea Leva, Umberto Cortinovis, Vittoria Espeli, Cristina Mangas, Pietro Quaglino, Simone Ribero, Paolo Broganelli, Giovanni Pellacani, Caterina Longo, Corrado Del Forno, Lorenzo Borgognoni, Serena Sestini, Nicola Pimpinelli, Sara Fortunato, Alessandra Chiarugi, Paolo Nardini, Elena Morittu, Antonio Florita, Mara Cossa, Barbara Valeri, Massimo Milione, Giancarlo Pruneri, Odysseas Zoras, Andrea Anichini, Roberta Mortarini, Mario Santinami
JOURNAL OF CLINICAL ONCOLOGY
(2020)
Article
Oncology
Andrea Maurichi, Rosalba Miceli, Roberto Patuzzo, Francesco Barretta, Gianfranco Gallino, Ilaria Mattavelli, Consuelo Barbieri, Andrea Leva, Umberto Cortinovis, Elena Tolomio, Milena Sant, Gianpiero Castelli, Leonardo Zichichi, Giovanni Pellacani, Ignazio Stanganelli, Marco Simonacci, Ausilia Manganoni, Corrado Del Forno, Gioachino Caresana, Catherine Harwood, Daniele Bergamaschi, Konstantinos Lasithiotakis, Dorothy Bennett, Vittoria Espeli, Cristina Mangas, Sandra Leoni Parvex, Barbara Valeri, Mara Cossa, Marta Barisella, Alessandro Pellegrinelli, Claudia Miranda, Andrea Anichini, Roberta Mortarini, Odysseas Zoras, Mario Santinami
JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK
(2020)
Article
Cell Biology
Linh Le, Iliana E. Escobar, Tina Ho, Ariel J. Lefkovith, Emily Latteri, Kirk D. Haltaufderhyde, Megan K. Dennis, Lynn Plowright, Elena Sviderskaya, Dorothy C. Bennett, Elena Oancea, Michael S. Marks
MOLECULAR BIOLOGY OF THE CELL
(2020)
Article
Oncology
Idoya Martinez-Vicente, Marta Abrisqueta, Cecilia Herraiz, Julia Sires-Campos, Maria Castejon-Grinan, Dorothy C. Bennett, Conchi Olivares, Jose Carlos Garcia-Borron, Celia Jimenez-Cervantes
Article
Cell Biology
Shanna L. Bowman, Linh Le, Yueyao Zhu, Dawn C. Harper, Anand Sitaram, Alexander C. Theos, Elena Sviderskaya, Dorothy C. Bennett, Graca Raposo-Benedetti, David J. Owen, Megan K. Dennis, Michael S. Marks
Summary: The vSNARE VAMP7 is sorted into transport carriers in complex with the tSNARE STX13, with sorting requiring recognition by either AP-3 delta or pallidin subunit of BLOC-1, but not both. This mechanism allows for redundant recognition of sorting determinants on a SNARE complex by an AP-3-BLOC-1 super-complex.
JOURNAL OF CELL BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Julia Sires-Campos, Ana Lambertos, Cedric Delevoye, Graca Raposo, Dorothy C. Bennett, Elena Sviderskaya, Celia Jimenez-Cervantes, Conchi Olivares, Jose Carlos Garcia-Borron
Summary: The absence of MGRN1 leads to cell-autonomous stimulation of pigment production in melanocytes by increasing tyrosinase activity through neutralizing melanosomal pH. Regulating melanosomal pH may involve several key genes such as subunits of V-ATPase and Mucolipin 3.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2022)
Article
Multidisciplinary Sciences
Jiyoung Lee, Yeonjoo Kim, Paris Ataliotis, Hyung-Goo Kim, Dae-Won Kim, Dorothy C. Bennett, Nigel A. Brown, Lawrence C. Layman, Soo-Hyun Kim
Summary: WDR11 is an important gene associated with Kallmann syndrome and plays a role in reproductive system development. Its molecular mechanism is not fully understood. In this study, we found that WDR11 is required for the development of primordial germ cells (PGCs) by regulating both canonical and noncanonical Hedgehog signaling pathways. Loss of WDR11 affects PGC motility and proliferation through the noncanonical pathway, and also modulates the growth of somatic cells surrounding PGCs through the canonical pathway. We further discovered that WDR11 regulates ciliogenesis and interacts with IFT20 to regulate anterograde intraflagellar transport.
SCIENTIFIC REPORTS
(2023)
Article
Biology
Julia K. Soo, Joanna T. Castle, Dorothy C. Bennett
Summary: This study reports the discovery of a synthetic peptide that can selectively kill human melanoma cells while being less toxic to normal cells. The peptide is derived from the target-binding site of the melanoma suppressor protein p16 and can induce apoptosis through a different pathway. The peptide also shows varying toxicity to other types of cancer cells.