Article
Genetics & Heredity
Meichen Pan, Lianjie Li, Zehao Li, Shu Chen, Zongzhe Li, Yuning Wang, Henghui He, Lihua Lin, Haihao Wang, Qian Liu
Summary: This study investigates the association between the FBN1 gene and non-syndromic AD. Pathogenic variants were found in 12.2% of non-syndromic AD patients. Positive variants were associated with younger age of AD onset. Missense mutations involving cysteine residues and splicing/truncation variants in the FBN1 gene increased the risk of Stanford A AD. Additionally, common SNPs were identified that increased susceptibility to AD and could serve as biomarkers for identifying at-risk patients.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Jian Sang, Tongwu Zhang, Jung Kim, Mengying Li, Angela C. Pesatori, Dario Consonni, Lei Song, Jia Liu, Wei Zhao, Phuc H. Hoang, Dave S. Campbell, James Feng, Monica E. D'Arcy, Naoise Synnott, Yingxi Chen, Zeni Wu, Bin Zhu, Xiaohong R. Yang, Kevin M. Brown, Jiyeon Choi, Jianxin Shi, Maria Teresa Landi
Summary: A new rare deleterious variant (RDV) and two previously reported RDVs were found to be associated with lung cancer risk. Additionally, new candidate susceptibility genes were identified, and enrichment of RDVs in homologous recombination repair and Fanconi anemia pathways was observed in lung cancer cases. These findings improve our understanding of lung cancer heritability and may contribute to risk stratification and prevention strategies.
HUMAN MOLECULAR GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Oktawia Nilsson, Mikaela Lindvall, Laura Obici, Simon Ekstrom, Jens O. Lagerstedt, Rita Del Giudice
Summary: Patients carrying ApoA-I amyloidogenic variants have a higher proportion of small, dense HDL particles, and enhanced cholesterol efflux capabilities due to altered protein structure dynamics.
JOURNAL OF LIPID RESEARCH
(2021)
Article
Endocrinology & Metabolism
Martine Paquette, Julie Amyot, Manon Fantino, Alexis Baass, Sophie Bernard
Summary: This study compared the clinical and biochemical characteristics of individuals with familial chylomicronemia syndrome (FCS), positive multifactorial chylomicronemia syndrome (MCS), and negative MCS. It was found that MCS individuals carrying a rare variant exhibited an intermediate phenotype between FCS and negative MCS subjects. Identification of higher-risk MCS patients for additional treatment is essential.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Martine Paquette, Julie Amyot, Manon Fantino, Alexis Baass, Sophie Bernard
Summary: This study compared the clinical and biochemical characteristics of patients with familial chylomicronemia syndrome (FCS), positive multifactorial chylomicronemia syndrome (MCS), and negative-MCS. It was found that the prevalence of pancreatitis differed significantly among the groups, with rare variants being one of the predictors of pancreatitis in MCS patients.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Neurosciences
Shichan Wang, Xiaoting Zheng, Qianqian Wei, Junyu Lin, Tianmi Yang, Yi Xiao, Qirui Jiang, Chunyu Li, Huifang Shang
Summary: In our study, rare variants of the DNAJC7 gene were identified in ALS patients, indicating a potential correlation with disease onset and progression. However, there was no enrichment of rare damaging variants in ALS patients compared to controls. Further analysis is needed to understand the role of DNAJC7 in the pathogenicity of ALS.
MOLECULAR NEUROBIOLOGY
(2023)
Article
Endocrinology & Metabolism
Neelam Hassan, Celia L. L. Gregson, Haotian Tang, Marc van der Kamp, Paul Leo, Aideen M. McInerney-Leo, Jie Zheng, Maria Luisa Brandi, Jonathan C. Y. Tang, William Fraser, Michael D. Stone, Elin Grundberg, Matthew A. Brown, Emma L. Duncan, Jonathan H. Tobias
Summary: Rare heterozygous loss-of-function variants in the GALNT3 gene may cause osteoporosis without altering phosphate concentration. These findings suggest that GALNT3 may affect bone mineral density through pathways other than FGF23 regulation, providing potential novel drug targets for osteoporosis.
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)
Article
Genetics & Heredity
Brooke Sadler, Jackson Wilborn, Lilian Antunes, Timothy Kuensting, Andrew T. Hale, Stephen R. Gannon, Kevin McCall, Carlos Cruchaga, Matthew Harms, Norine Voisin, Alexandre Reymond, Gerarda Cappuccio, Nicola Burnetti-Pierri, Marco Tartaglia, Marcello Niceta, Chiara Leoni, Giuseppe Zampino, Allison Ashley-Koch, Aintzane Urbizu, Melanie E. Garrett, Karen Soldano, Alfons Macaya, Donald Conrad, Jennifer Strahle, Matthew B. Dobbs, Tychele N. Turner, Chevis N. Shannon, Douglas Brockmeyer, David D. Limbrick, Christina A. Gurnett, Gabe Haller
Summary: The study identified a significant enrichment of rare and de novo non-synonymous variants in chromodomain (CHD) genes among individuals with Chiari I malformation (CM1), suggesting a potential role of these genes in CM1 pathogenesis. Additionally, individuals with CM1 were found to have significantly increased head circumference, with many harboring CHD rare variants exhibiting macrocephaly.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Maryam B. Khadzhieva, Dmitry S. Kolobkov, Darya A. Kashatnikova, Alesya S. Gracheva, Ivan V. Redkin, Artem N. Kuzovlev, Lyubov E. Salnikova
Summary: This study focuses on the host genetics of severe COVID-19, exploring the ideas of the omnigenic model. The findings suggest that there is an excess of rare high-impact variants in severe COVID-19 patients, with the PID + FP gene subsets showing the strongest association with disease severity.
Article
Genetics & Heredity
Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Banos-Pinero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Nemeth, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noemi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor
Summary: Whole genome sequencing is increasingly used for diagnosing patients with rare diseases, with analysis of structural, splice site, and deep intronic variants making a significant contribution to diagnostic yield. Comprehensive analysis of the entire genome is crucial for maximizing the value of clinical genome sequencing.
Article
Ecology
Jianhai Chen, Lijuan Ying, Li Zeng, Chunyu Li, Yangying Jia, Hao Yang, Guang Yang
Summary: This study identified novel compound heterozygous variants related to microcephaly and revealed their potential impacts on the regions of positive selection of the TUBGCP6 gene.
FRONTIERS IN ECOLOGY AND EVOLUTION
(2022)
Article
Immunology
Maryem Ouarhache, Sandrine Marquet, Amanda Farage Frade, Ariela Mota Ferreira, Barbara Ianni, Rafael Ribeiro Almeida, Joao Paulo Silva Nunes, Ludmila Rodrigues Pinto Ferreira, Vagner Oliveira-Carvalho Rigaud, Darlan Candido, Charles Mady, Ricardo Costa Fernandes Zaniratto, Paula Buck, Magali Torres, Frederic Gallardo, Pauline Andrieux, Sergio Bydlowsky, Debora Levy, Laurent Abel, Clareci Silva Cardoso, Omar Ribeiro Santos-Junior, Lea Campos Oliveira, Claudia Di Lorenzo Oliveira, Maria Do Carmo Nunes, Aurelie Cobat, Jorge Kalil, Antonio Luiz Ribeiro, Ester Cerdeira Sabino, Edecio Cunha-Neto, Christophe Chevillard
Summary: This study identified rare pathogenic genetic variants linked to Chagas disease cardiomyopathy in multiple nuclear families, mainly involving mitochondrial or inflammation-related genes. The findings suggest a genetic basis for mitochondrial dysfunction and inflammation in CCC, potentially affecting myocardial susceptibility to IFN-gamma-induced damage and contributing to the cardiomyopathy phenotype in Chagas disease and possibly other inflammatory cardiomyopathies.
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Article
Medicine, Research & Experimental
Gundula Povysil, Guillaume Butler-Laporte, Ning Shang, Chen Wang, Atlas Khan, Manal Alaamery, Tomoko Nakanishi, Sirui Zhou, Vincenzo Forgetta, Robert J. M. Eveleigh, Mathieu Bourgey, Naveed Aziz, Steven J. M. Jones, Bartha Knoppers, Stephen W. Scherer, Lisa J. Strug, Pierre Lepage, Jiannis Ragoussis, Guillaume Bourque, Jahad Alghamdi, Nora Aljawini, Nour Albes, Hani M. Al-Afghani, Bader Alghamdi, Mansour S. Almutairi, Ebrahim Sabri Mahmoud, Leen Abu-Safieh, Hadeel El Bardisy, Fawz S. Al Harthi, Abdulraheem Alshareef, Bandar Ali Suliman, Saleh A. Alqahtani, Abdulaziz Almalik, May M. Alrashed, Salam Massadeh, Vincent Mooser, Mark Lathrop, Mohamed Fawzy, Yaseen M. Arabi, Hamdi Mbarek, Chadi Saad, Wadha Al-Muftah, Junghyun Jung, Serghei Mangul, Radja Badji, Asma Al Thani, Said I. Ismail, Ali G. Gharavi, Malak S. Abedalthagafi, J. Brent Richards, David B. Goldstein, Krzysztof Kiryluk
Summary: The study found no evidence of association between rare pLOF variants in 13 candidate genes and severe COVID-19 outcomes. Only one rare pLOF mutation was identified across these genes among cases with severe COVID-19, and there was no enrichment of pLOFs in severe cases compared to controls or mild COVID-19 cases.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Psychology, Multidisciplinary
Marcus Eckert, Viviane Scherenberg, Clemens Klinke
Summary: Student engagement is crucial for academic success and student well-being. Previous studies have shown that extrinsic rewards are not effective in the long term, but are important for engaging in non-intrinsically rewarding activities. This study investigated the use of reward prediction error, a mechanism that prolongs the effects of extrinsic rewards. The results showed that a classroom-based game incorporating reinforcement and luck significantly increased student engagement and improved math performance, highlighting the importance of gamification in both digital and analog settings.
FRONTIERS IN PSYCHOLOGY
(2023)
Article
Oncology
Angelo Velle, Chiara Pesenti, Tommaso Grassi, Luca Beltrame, Paolo Martini, Marta Jaconi, Federico Agostinis, Enrica Calura, Dionyssios Katsaros, Fulvio Borella, Robert Fruscio, Maurizio D'Incalci, Sergio Marchini, Chiara Romualdi
Summary: In this study, we investigated the expression of isomiRs in different histological subtypes of Stage I epithelial ovarian cancer (EOC) for the first time, aiming to gain new insights into their biological role in tumor growth and progression.
INTERNATIONAL JOURNAL OF CANCER
(2023)
