Research Outputs
Permanent URI for this communityhttps://hdl.handle.net/20.500.14288/2
Browse
104 results
Search Results
Publication Metadata only 268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials(Elsevier B.V., 2023) Montagnese F, de Valle K, Lemmers RJLF, Mul K, Dumonceaux J, Voermans N; 268th ENMC workshop participants.; Oflazer, Piraye; ; School of Medicine;Highlights This ENMC workshop has seen the participation of many important stakeholders working together to improve trial readiness in FSHD: patients and patients’ organizations (FSHD-Europe, FSHD-Society and FSHD Global), neuromuscular clinicians, geneticists, basic researchers, representatives of the TREAT-NMD network, the FSHD-CTRN and EMA. COMs represent useful tools for the standardized collection of clinical features but need to be selected to match the clinical setting of use. For patient care, they need to be informative, with practical and time efficient utility so as not to detract from clinical care. For clinical trial purposes, the need to be reliable, valid, meaningful and sensitive to change to better depict therapeutic responses. An optimized clinical evaluation and genetic test form is one of the goals of WG1 and 2. A diagnostic flowchart for FSHD1 and FSHD2 has been proposed. Another important unmet need for clinical trial readiness in FSHD is the identification of good therapeutic biomarkers, which ideally should be quantitative, non-invasive, applicable across the entire range of disease severity, sensitive to change, reliable and clinically meaningful. The WG 3 will produce standard operating procedures (SOPs) for DUX4 detection. Similarly, large differences in the reporting of studies performed on animal models, thus hindering interpretation, repeatability and comparison of the results need to be addressed. Guidelines regarding minimum information for publication of work including animal models for FSHD will therefore be published.Publication Metadata only A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry(Nature Portfolio, 2024) Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina; Yesil, Gozde; Malfatti, Edoardo; Lilliker, James B.; Wicklund, Matthew; Pitceathly, Robert D. S.; Brady, Stefen; Brais, Bernard; Pellerin, David; Zuchner, Stephan; Danzi, Matt C.; Grandis, Marina; Comi, Giacomo P.; Corti, Stefania P.; Abati, Elena; Toscano, Antonio; Manini, Arianna; Ghia, Arianna; Tassorelli, Cristina; Quartesan, Ilaria; Simone, Roberto; Rossor, Alexander M.; Reilly, Mary M.; Carroll, Liam; Straub, Volker; Udd, Bjarne; Chen, Zhiyong; Bonne, Gisele; Oflazer, Piraye; Başak, Ayşe Nazlı; Kayserili, Hülya; ; School of Medicine;Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG center dot CCG repeat expansion in four different genes were identified in OPDM individuals in Asian populations. None of these have been found in affected individuals of non-Asian ancestry. In this study we describe the identification of CCG expansions in ABCD3, ranging from 118 to 694 repeats, in 35 affected individuals across eight unrelated OPDM families of European ancestry. ABCD3 transcript appears upregulated in fibroblasts and skeletal muscle from OPDM individuals, suggesting a potential role of over-expression of CCG repeat containing ABCD3 transcript in progressive skeletal muscle degeneration. The study provides further evidence of the role of non-coding repeat expansions in unsolved neuromuscular diseases and strengthens the association between the CGG center dot CCG repeat motif and a specific pattern of muscle weakness.Publication Metadata only A study on the early metabolic effects of salt and fructose consumption: the protective role of water(Springer, 2024) Hasbal, Nuri Barış; Siriopol, Dimitrie; Sanchez-Lozada, Laura G.; Lanaspa, Miguel A.; Johnson, Richard J.; Bakır, Çiçek Nur; İncir, Said; Kanbay, Mehmet; ; School of Medicine;Increasing serum osmolality has recently been linked with acute stress responses, which over time can lead to increased risk for obesity, hypertension, and other chronic diseases. Salt and fructose are two major stimuli that can induce acute changes in serum osmolality. Here we investigate the early metabolic effects of sodium and fructose consumption and determine whether the effects of sodium or fructose loading can be mitigated by blocking the change in osmolality with hydration. Forty-four healthy subjects without disease and medication were recruited into four groups. After overnight fasting, subjects in Group 1 drank 500 mL of salty soup, while those in Group 2 drank 500 mL of soup without salt for 15 min. Subjects in Group 3 drank 500 mL of 100% apple juice in 5 min, while subjects in Group 4 drank 500 mL of 100% apple juice and 500 mL of water in 5 min. Blood pressure (BP), plasma sodium, and glucose levels were measured every 15 min in the first 2 h. Serum and urine osmolarity, serum uric acid, cortisol, fibroblast growth factor 21 (FGF21), aldosterone, adrenocorticotropic hormone (ACTH) level, and plasma renin activity (PRA) were measured at the baseline and 2 h. Both acute intake of salt or fructose increased serum osmolality (maximum similar to 4 mOsm/L peaking at 75 min) associated with a rise in systolic and diastolic BP, PRA, aldosterone, ACTH, cortisol, plasma glucose, uric acid, and FGF21. Salt tended to cause greater activation of the renin-angiotensin-system (RAS), while fructose caused a greater rise in glucose and FGF21. In both cases, hydration could prevent the osmolality and largely block the acute stress response. Acute changes in serum osmolality can induce remarkable activation of the ACTH-cortisol, RAS, glucose metabolism, and uric acid axis that is responsive to hydration. In addition to classic dehydration, salt, and fructose-containing sugars can activate these responses. Staying well hydrated may provide benefits despite exposure to sugar and salt. More studies are needed to investigate whether hydration can block the chronic effects of sugar and salt on disease.Publication Metadata only Add-ons in the art clinic(Oxford University Press, 2023) Pinborg, A.; Bentzen, J.; Ebner, T.; Harper, J.; Le Clef, N.; Moffett, A.; Norcross, S.; Polyzos, N. P.; Rautakallio-Hokkanen, S.; Sfontouris, I.; Sermon, K.; Vermeulen, N.; Lundin, K.; Bozdağ, Gürkan; ; School of Medicine;N/APublication Metadata only Add-ons in the art lab(Oxford University Press, 2023) Lundin, K.; Bentzen, J.; Ebner, T.; Harper, J.; Le Clef, N.; Moffett, A.; Norcross, S.; Polyzos, N. P.; Rautakallio-Hokkanen, S.; Sfontouris, I.; Sermon, K.; Vermeulen, N.; Pinborg, A.; Bozdağ, Gürkan; ; School of Medicine;N/APublication Metadata only An overview of security issues in cognitive radio ad hoc networks(IGI Global, 2023) Islam, Noman; Syed, Darakhshan; Zia, Muhammad Furqan; ; Graduate School of Sciences and Engineering;Cognitive radio ad hoc network (CRAHN) is an emerging discipline of network computing. It combines the advantages of cognitive radio networks and mobile ad hoc networks. This chapter starts with an overview of various research issues of CRAHN along with representative solutions for these research issues. Among the various research issues presented, security is discussed in detail due to its prime importance. A review of existing literature reveals that not much work on security has been reported for cognitive radio networks. Specifically, an overview of security issues in CRAHN, presented in this article, is a novel work of this kind. A major part of this article highlights the importance of security in CRAHN and presents an overview of major security issues and the solutions proposed to address these issues in CRAHN. © 2023, IGI Global. All rights reserved.Publication Metadata only Application of HLA molecular mismatch algorithms to predict primary alloimmunity risk and rejection in paediatric kidney transplantation(Springer, 2023) Kim, Jon Jin; Fichtner, Alexander; Copley, Hannah; Krupka, Kai; Pape, Lars; Toenshoff, Burkhard; Kosmoliaptsis, Vasilis; Süsal, Caner; Koç Üniversitesi Organ Nakli İmmünoloji Araştırma Mükemmeliyet Merkezi (TIREX) / Transplant Immunology Research Centre of Excellence (TIREX); School of Medicine; Koç University Hospital[No abstract available]Publication Metadata only Assessment of HLA incompatibility at the molecular compared to antigenic HLA level enables better prediction of graft function deterioration in paediatric kidney transplantation(Springer, 2023) Kim, Jon Jin; Fichtner, Alexander; Copley, Hannah; Susal, Caner; Krupka, Kai; Pape, Lars; Burkhard, Toenshoff; Kosmoliaptsis, Vasilis; Süsal, Caner; Koç Üniversitesi Organ Nakli İmmünoloji Araştırma Mükemmeliyet Merkezi (TIREX) / Transplant Immunology Research Centre of Excellence (TIREX); School of Medicine; Koç University Hospital[No abstract available]Publication Metadata only Author Correction: Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)(Nature Research, 2023) Lange, Lara M.; Avenali, Micol; Ellis, Melina; Illarionova, Anastasia; Keller Sarmiento, Ignacio J.; Tan, Ai-Huey; Madoev, Harutyun; Galandra, Caterina; Junker, Johanna; Roopnarain, Karisha; Solle, Justin; Wegel, Claire; Fang, Zih-Hua; Heutink, Peter; Kumar, Kishore R.; Lim, Shen-Yang; Valente, Enza Maria; Nalls, Mike; Blauwendraat, Cornelis; Singleton, Andrew; Mencacci, Niccolo; Lohmann, Katja; Klein, Christine; Gatto, Emilia M.; Kauffman, Marcelo; Khachatryan, Samson; Tavadyan, Zaruhi; Shepherd, Claire E.; Hunter, Julie; Kumar, Kishore; Ellis, Melina; Rentería, Miguel E.; Koks, Sulev; Zimprich, Alexander; Schumacher-Schuh, Artur F.; Rieder, Carlos; Awad, Paula Saffie; Tumas, Vitor; Camargos, Sarah; Fon, Edward A.; Monchi, Oury; Fon, Ted; Galleguillos, Benjamin Pizarro; Miranda, Marcelo; Bustamante, Maria Leonor; Olguin, Patricio; Chana, Pedro; Tang, Beisha; Shang, Huifang; Guo, Jifeng; Chan, Piu; Luo, Wei; Arboleda, Gonzalo; Orozco, Jorge; del Rio, Marlene Jimenez; Hernandez, Alvaro; Salama, Mohamed; Kamel, Walaa A.; Zewde, Yared Z.; Brice, Alexis; Corvol, Jean-Christophe; Westenberger, Ana; Mollenhauer, Brit; Klein, Christine; Vollstedt, Eva-Juliane; Hopfner, Franziska; Höglinger, Günter; Trinh, Joanne; Lange, Lara M.; Sharma, Manu; Groppa, Sergio; Gasser, Thomas; Fang, Zih-Hua; Akpalu, Albert; Xiromerisiou, Georgia; Hadjigorgiou, Georgios; Dagklis, Ioannis; Tarnanas, Ioannis; Stefanis, Leonidas; Stamelou, Maria; Dadiotis, Efthymios; Medina, Alex; Chan, Germaine Hiu-Fai; Ip, Nancy; Cheung, Nelson Yuk-Fai; Chan, Phillip; Zhou, Xiaopu; Kishore, Asha; Kp, Divya; Pal, Pramod; Kukkle, Prashanth Lingappa; Rajan, Roopa; Borgohain, Rupam; Salari, Mehri; Quattrone, Andrea; Valente, Enza Maria; Parnetti, Lucilla; Schirinzi, Tommaso; Funayama, Manabu; Hattori, Nobutaka; Shiraishi, Tomotaka; Karimova, Altynay; Kaishibayeva, Gulnaz; Shambetova, Cholpon; Krüger, Rejko; Ahmad-Annuar, Azlina; Norlinah, Mohamed Ibrahim; Murad, Nor Azian Abdul; Ibrahim, Norlinah Mohamed; Azmin, Shahrul; Lim, Shen-Yang; Mohamed, Wael; Tay, Yi Wen; Martinez-Ramirez, Daniel; Rodriguez-Violante, Mayela; Reyes-Pérez, Paula; Tserensodnom, Bayasgalan; Ojha, Rajeev; Anderson, Tim J.; Pitcher, Toni L.; Sanyaolu, Arinola; Okubadejo, Njideka; Ojo, Oluwadamilola; Aasly, Jan O.; Pihlstrøm, Lasse; Tan, Manuela; Ur-Rehman, Shoaib; Cornejo-Olivas, Mario; Doquenia, Maria Leila; Rosales, Raymond; Vinuela, Angel; Iakovenko, Elena; Mubarak, Bashayer Al; Umair, Muhammad; Tan, Eng-King; Foo, Jia Nee; Amod, Ferzana; Carr, Jonathan; Bardien, Soraya; Jeon, Beomseok; Kim, Yun Joong; Cubo, Esther; Alvarez, Ignacio; Hoenicka, Janet; Beyer, Katrin; Periñan, Maria Teresa; Pastor, Pau; El-Sadig, Sarah; Zweier, Christiane; Paul, Krack; Lin, Chin-Hsien; Wu, Hsiu-Chuan; Kung, Pin-Jui; Wu, Ruey-Meei; Wu, Serena; Wu, Yihru; Amouri, Rim; Sassi, Samia Ben; Başak, A. Nazl; Genc, Gencer; Çakmak, Özgür Öztop; Ertan, Sibel; Noyce, Alastair; Martínez-Carrasco, Alejandro; Schrag, Anette; Schapira, Anthony; Carroll, Camille; Bale, Claire; Grosset, Donald; Stafford, Eleanor J.; Houlden, Henry; Morris, Huw R.; Hardy, John; Mok, Kin Ying; Rizig, Mie; Wood, Nicholas; Williams, Nigel; Okunoye, Olaitan; Lewis, Patrick Alfryn; Kaiyrzhanov, Rauan; Weil, Rimona; Love, Seth; Stott, Simon; Jasaitye, Simona; Dey, Sumit; Obese, Vida; Espay, Alberto; O’Grady, Alyssa; Singleton, Andrew B.; Sobering, Andrew K.; Siddiqi, Bernadette; Casey, Bradford; Fiske, Brian; Jonas, Cabell; Cruchaga, Carlos; Pantazis, Caroline B.; Comart, Charisse; Vitale, Dan; Hall, Deborah; Hernandez, Dena; Shiamim, Ejaz; Riley, Ekemini; Faghri, Faraz; Serrano, Geidy E.; Leonard, Hampton; Iwaki, Hirotaka; Chen, Honglei; Mata, Ignacio F.; Sarmiento, Ignacio Juan Keller; Williamson, Jared; Kim, Jonggeol Jeff; Jankovic, Joseph; Shulman, Joshua; Solle, Justin C.; Murphy, Kaileigh; Nuytemans, Karen; Kieburtz, Karl; Markopoulou, Katerina; Marek, Kenneth; Levine, Kristin S.; Chahine, Lana M.; Screven, Laurel; Ruffrage, Lauren; Shulman, Lisa; Marsili, Luca; Kuhl, Maggie; Dean, Marissa; Makarious, Mary B.; Koretsky, Mathew; Inca-Martinez, Miguel; Nalls, Mike A.; Louie, Naomi; Mencacci, Niccolò Emanuele; Albin, Roger; Alcalay, Roy; Walker, Ruth; Bandres-Ciga, Sara; Chowdhury, Sohini; Dumanis, Sonya; Lubbe, Steven; Xie, Tao; Foroud, Tatiana; Beach, Thomas; Sherer, Todd; Song, Yeajin; Nguyen, Duan; Nguyen, Toan; Atadzhanov, Masharip; Başak, Ayşe Nazlı; Çakmak, Özgür Öztop; Ertan, Fatoş Sibel; ; School of Medicine;Correction to: npj Parkinson’s Disease, published online 27 June 2023 In this article the Global Parkinson’s Genetics Program (GP2) members names and affiliations were missing in the main author list of the Original article which are listed in the below. © 2023, Springer Nature Limited.Publication Metadata only Can endometrial compaction predict live birth/ongoing pregnancy rates in assisted reproductive technology cycles? A systematic review and meta-analysis(Oxford University Press, 2023) ; Türkgeldi, Engin; Kalafat, Erkan; Yıldız, Şule; Keleş, İpek; Ata, Mustafa Barış; Bozdağ, Gürkan; ; School of Medicine; Koç University HospitalN/A