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2,525 results on '"Genetic factors"'

10. Development and Validation of the Nonalcoholic Fatty Liver Disease Familial Risk Score to Detect Advanced Fibrosis: A Prospective, Multicenter Study

Author

Huang, Daniel Q., Ahlholm, Noora, Luukkonen, Panu K., Porthan, Kimmo, Amangurbanova, Maral, Madamba, Egbert, Bettencourt, Richele, Siddiqi, Harris, Cervantes, Vanessa, Hernandez, Christie, Lopez, Scarlett J., Richards, Lisa, Nemes, Katriina, Isoniemi, Helena, Yki-Järvinen, Hannele, and Loomba, Rohit

Published
2024
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14. Sex differences in neuromuscular disorders

Author

Vinciguerra, Claudia, Iacono, Salvatore, Bevilacqua, Liliana, Landolfi, Annamaria, Piscosquito, Giuseppe, Ginanneschi, Federica, Schirò, Giuseppe, Di Stefano, Vincenzo, Brighina, Filippo, Barone, Paolo, and Balistreri, Carmela Rita

Published
2023
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22. Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinsons disease study.

Author

Westenberger, Ana, Skrahina, Volha, Usnich, Tatiana, Beetz, Christian, Vollstedt, Eva-Juliane, Laabs, Björn-Hergen, Paul, Jefri, Curado, Filipa, Skobalj, Snezana, Gaber, Hanaa, Olmedillas, Maria, Bogdanovic, Xenia, Ameziane, Najim, Schell, Nathalie, Aasly, Jan, Afshari, Mitra, Agarwal, Pinky, Aldred, Jason, Alonso-Frech, Fernando, Anderson, Roderick, Araújo, Rui, Arkadir, David, Avenali, Micol, Balal, Mehmet, Benizri, Sandra, Bette, Sagari, Bhatia, Perminder, Bonello, Michael, Braga-Neto, Pedro, Brauneis, Sarah, Cardoso, Francisco, Cavallieri, Francesco, Classen, Joseph, Cohen, Lisa, Coletta, Della, Crosiers, David, Cullufi, Paskal, Dashtipour, Khashayar, Demirkiran, Meltem, de Carvalho Aguiar, Patricia, De Rosa, Anna, Djaldetti, Ruth, Dogu, Okan, Dos Santos Ghilardi, Maria, Eggers, Carsten, Elibol, Bulent, Ellenbogen, Aaron, Ertan, Sibel, Fabiani, Giorgio, Falkenburger, Björn, Farrow, Simon, Fay-Karmon, Tsviya, Ferencz, Gerald, Fonoff, Erich, Fragoso, Yara, Genç, Gençer, Gorospe, Arantza, Grandas, Francisco, Gruber, Doreen, Gudesblatt, Mark, Gurevich, Tanya, Hagenah, Johann, Hanagasi, Hasmet, Hassin-Baer, Sharon, Hauser, Robert, Hernández-Vara, Jorge, Herting, Birgit, Hinson, Vanessa, Hogg, Elliot, Hu, Michele, Hummelgen, Eduardo, Hussey, Kelly, Infante, Jon, Isaacson, Stuart, Jauma, Serge, Koleva-Alazeh, Natalia, Kuhlenbäumer, Gregor, Kühn, Andrea, Litvan, Irene, López-Manzanares, Lydia, Luxmore, McKenzie, Manandhar, Sujeena, Marcaud, Veronique, Markopoulou, Katerina, Marras, Connie, McKenzie, Mark, Matarazzo, Michele, Merello, Marcelo, Mollenhauer, Brit, Morgan, John, Mullin, Stephen, Musacchio, Thomas, Myers, Bennett, Negrotti, Anna, Nieves, Anette, Nitsan, Zeev, Oskooilar, Nader, Öztop-Çakmak, Özgür, Pal, Gian, and Pavese, Nicola

Subjects
GBA1, LRRK2, Parkinson’s disease, genetic factors, genetic testing, next-generation sequencing, Humans, Parkinson Disease, Male, Female, Middle Aged, Aged, Genetic Testing, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Glucosylceramidase, alpha-Synuclein, Genetic Predisposition to Disease, Ubiquitin-Protein Ligases, Cohort Studies, Protein Kinases, Mutation, Adult
Abstract

Estimates of the spectrum and frequency of pathogenic variants in Parkinsons disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has reached the clinical trial stage, a major obstacle in conducting these trials is that PD patients are largely unaware of their genetic status and, therefore, cannot be recruited. Expanding the number of investigated PD-related genes and including genes related to disorders with overlapping clinical features in large, well-phenotyped PD patient groups is a prerequisite for capturing the full variant spectrum underlying PD and for stratifying and prioritizing patients for gene-targeted clinical trials. The Rostock Parkinsons disease (ROPAD) study is an observational clinical study aiming to determine the frequency and spectrum of genetic variants contributing to PD in a large international cohort. We investigated variants in 50 genes with either an established relevance for PD or possible phenotypic overlap in a group of 12 580 PD patients from 16 countries [62.3% male; 92.0% White; 27.0% positive family history (FH+), median age at onset (AAO) 59 years] using a next-generation sequencing panel. Altogether, in 1864 (14.8%) ROPAD participants (58.1% male; 91.0% White, 35.5% FH+, median AAO 55 years), a PD-relevant genetic test (PDGT) was positive based on GBA1 risk variants (10.4%) or pathogenic/likely pathogenic variants in LRRK2 (2.9%), PRKN (0.9%), SNCA (0.2%) or PINK1 (0.1%) or a combination of two genetic findings in two genes (∼0.2%). Of note, the adjusted positive PDGT fraction, i.e. the fraction of positive PDGTs per country weighted by the fraction of the population of the world that they represent, was 14.5%. Positive PDGTs were identified in 19.9% of patients with an AAO ≤ 50 years, in 19.5% of patients with FH+ and in 26.9% with an AAO ≤ 50 years and FH+. In comparison to the idiopathic PD group (6846 patients with benign variants), the positive PDGT group had a significantly lower AAO (4 years, P = 9 × 10-34). The probability of a positive PDGT decreased by 3% with every additional AAO year (P = 1 × 10-35). Female patients were 22% more likely to have a positive PDGT (P = 3 × 10-4), and for individuals with FH+ this likelihood was 55% higher (P = 1 × 10-14). About 0.8% of the ROPAD participants had positive genetic testing findings in parkinsonism-, dystonia/dyskinesia- or dementia-related genes. In the emerging era of gene-targeted PD clinical trials, our finding that ∼15% of patients harbour potentially actionable genetic variants offers an important prospect to affected individuals and their families and underlines the need for genetic testing in PD patients. Thus, the insights from the ROPAD study allow for data-driven, differential genetic counselling across the spectrum of different AAOs and family histories and promote a possible policy change in the application of genetic testing as a routine part of patient evaluation and care in PD.

Published
2024

36. Genetic Susceptibility to Hepatic Sinusoidal Obstruction Syndrome in Pediatric Patients Undergoing Hematopoietic Stem Cell Transplantation

Author

Ansari, Marc, Petrykey, Kateryna, Rezgui, Mohamed Aziz, Del Vecchio, Veronica, Cortyl, Jacques, Ralph, Reginald-Olivier, Nava, Tiago, Beaulieu, Patrick, St-Onge, Pascal, Jurkovic Mlakar, Simona, Huezo-Diaz Curtis, Patricia, Uppugunduri, Chakradhara Rao S., Lesne, Laurence, Théoret, Yves, Chalandon, Yves, Bartelink, Imke H., Boelens, Jaap-Jan, Bredius, Robbert G.M., Dalle, Jean-Hugues, Lewis, Victor, Kangarloo, Bill S., Peters, Christina, Sinnett, Daniel, Bittencourt, Henrique, and Krajinovic, Maja

Published
2020
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42. Genetic and molecular regulation of fruit development in cucumber.

Author

Zhao, Jianyu, Song, Weiyuan, and Zhang, Xiaolan

Subjects
*FRUIT development, *HORMONE regulation, *GENETIC regulation, *PRESERVATION of fruit, *FRUIT, *CUCUMBERS
Abstract

Summary: Fruit development can be generally classified into a set of biologically sequential stages including fruit initiation, growth, and ripening. Cucumber, a globally important vegetable crop, displays two important features during fruit development: parthenocarpy at fruit initiation and prematurity at harvest for consumption. Therefore, fruit growth plays essential role for cucumber yield and quality formation, and has become the research hot spot in cucumber fruit development. Here, we describe recent advances in molecular mechanisms underlying fruit growth in cucumber, include key players and regulatory networks controlling fruit length variation, fruit neck elongation, and locule development. We also provide insights into future directions for scientific research and breeding strategies in cucumber. [ABSTRACT FROM AUTHOR]

Published
2024
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43. Colonic diverticular disease revisited.

Author

de Silva, Arjuna Priyadarsin, Nuwanshika, Nilushi, Dassanayake, Uditha, Niriella, Madunil Anuk, Ranasinghe, Poornima, and de Silva, H. Janaka

Abstract

Introduction: Diverticular disease, including diverticulosis and diverticulitis, presents a significant health concern globally, with increasing prevalence in Western societies and emerging trends in Asia. The incidence of diverticulitis, is on the rise, leading to significant morbidity and healthcare costs. Areas Covered: A literature search was conducted using the PubMed database, and studies published between 1995 and 2024 were selected based on their relevance to the overall understanding of disease. This review investigates the clinical spectrum, classification, and management strategies of diverticular disease, focusing particularly on evolving trends in diagnosis and treatment. Discussions regarding the prevalence of diverticulosis, the identification of risk factors associated with disease progression, recent advancements in research, and the utilization of biomarkers in disease monitoring and treatment decision-making are considered in detail. Expert Opinion: The discourse on diverticular disease underscores the pressing need for tailored management strategies and innovative treatments. Understanding the intricacies of the disease's pathophysiology is paramount for effective intervention. Recent advances in diagnostic imaging and biomarker identification are promising, yet more research is imperative to further refine patient care. Advances in these areas hold the potential for significantly improving outcomes in disease management. [ABSTRACT FROM AUTHOR]

Published
2024
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48. Genetic Risk Factors Associated With Antiemetic Efficacy of Palonosetron, Aprepitant, and Dexamethasone in Japanese Breast Cancer Patients Treated With Anthracycline-based Chemotherapy

Author

Yokoyama, Satoshi, Tamaru, Satoshi, Tamaki, Shinya, Nakanishi, Daisuke, Mori, Akiya, Yamakawa, Tomokazu, Ao, Takaaki, Sakata, Yasuhiko, Mizuno, Toshiro, Iwamoto, Takuya, Watanabe, Kenichi, Simomura, Makoto, Kawakami, Keiki, Konishi, Naomi, Kageyama, Shinichi, Ohtani, Shoichiro, Yamada, Tomomi, Ban, Susumu, and Ooi, Kazuya

Published
2018
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