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UMC Repository: Recent submissions

  • De novo SPAST mutations may cause a complex SPG4 phenotype 
    Schieving, Jolanda H; de Bot, Susanne T; van de Pol, Laura A; Wolf, Nicole I; Brilstra, Eva H; Frints, Suzanna G; van Gaalen, Judith; Misra-Isrie, Mala; Pennings, Maartje; Verschuuren-Bemelmans, Corien C; Kamsteeg, Erik-Jan; van de Warrenburg, Bart P; Willemsen, Michèl A (Oxford University Press, 2019-07-01)
  • Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum 
    Motta, Marialetizia; Pannone, Luca; Pantaleoni, Francesca; Bocchinfuso, Gianfranco; Radio, Francesca Clementina; Cecchetti, Serena; Ciolfi, Andrea; Di Rocco, Martina; Elting, Mariet W; Brilstra, Eva H; Boni, Stefania; Mazzanti, Laura; Tamburrino, Federica; Walsh, Larry; Payne, Katelyn; Fernández-Jaén, Alberto; Ganapathi, Mythily; Chung, Wendy K; Grange, Dorothy K; Dave-Wala, Ashita; Reshmi, Shalini C; Bartholomew, Dennis W; Mouhlas, Danielle; Carpentieri, Giovanna; Bruselles, Alessandro; Pizzi, Simone; Bellacchio, Emanuele; Piceci-Sparascio, Francesca; Lißewski, Christina; Brinkmann, Julia; Waclaw, Ronald R; Waisfisz, Quinten; van Gassen, Koen; Wentzensen, Ingrid M; Morrow, Michelle M; Álvarez, Sara; Martínez-García, Mónica; De Luca, Alessandro; Memo, Luigi; Zampino, Giuseppe; Rossi, Cesare; Seri, Marco; Gelb, Bruce D; Zenker, Martin; Dallapiccola, Bruno; Stella, Lorenzo; Prada, Carlos E; Martinelli, Simone; Flex, Elisabetta; Tartaglia, Marco (Cell Press, 2020-09-03)
    Signal transduction through the RAF-MEK-ERK pathway, the first described mitogen-associated protein kinase (MAPK) cascade, mediates multiple cellular processes and participates in early and late developmental programs. ...
  • Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations 
    Connaughton, Dervla M; Dai, Rufeng; Owen, Danielle J; Marquez, Jonathan; Mann, Nina; Graham-Paquin, Adda L; Nakayama, Makiko; Coyaud, Etienne; Laurent, Estelle M N; St-Germain, Jonathan R; Blok, Lot Snijders; Vino, Arianna; Klämbt, Verena; Deutsch, Konstantin; Wu, Chen-Han Wilfred; Kolvenbach, Caroline M; Kause, Franziska; Ottlewski, Isabel; Schneider, Ronen; Kitzler, Thomas M; Majmundar, Amar J; Buerger, Florian; Onuchic-Whitford, Ana C; Youying, Mao; Kolb, Amy; Salmanullah, Daanya; Chen, Evan; van der Ven, Amelie T; Rao, Jia; Ityel, Hadas; Seltzsam, Steve; Rieke, Johanna M; Chen, Jing; Vivante, Asaf; Hwang, Daw-Yang; Kohl, Stefan; Dworschak, Gabriel C; Hermle, Tobias; Alders, Mariëlle; Bartolomaeus, Tobias; Bauer, Stuart B; Baum, Michelle A; Brilstra, Eva H; Challman, Thomas D; Zyskind, Jacob; Costin, Carrie E; Dipple, Katrina M; Duijkers, Floor A; Ferguson, Marcia; Fitzpatrick, David R; Fick, Roger; Glass, Ian A; Hulick, Peter J; Kline, Antonie D; Krey, Ilona; Kumar, Selvin; Lu, Weining; Marco, Elysa J; Wentzensen, Ingrid M; Mefford, Heather C; Platzer, Konrad; Povolotskaya, Inna S; Savatt, Juliann M; Shcherbakova, Natalia V; Senguttuvan, Prabha; Squire, Audrey E; Stein, Deborah R; Thiffault, Isabelle; Voinova, Victoria Y; Somers, Michael J G; Ferguson, Michael A; Traum, Avram Z; Daouk, Ghaleb H; Daga, Ankana; Rodig, Nancy M; Terhal, Paulien A; van Binsbergen, Ellen; Eid, Loai A; Tasic, Velibor; Rasouly, Hila Milo; Lim, Tze Y; Ahram, Dina F; Gharavi, Ali G; Reutter, Heiko M; Rehm, Heidi L; MacArthur, Daniel G; Lek, Monkol; Laricchia, Kristen M; Lifton, Richard P; Xu, Hong; Mane, Shrikant M; Sanna-Cherchi, Simone; Sharrocks, Andrew D; Raught, Brian; Fisher, Simon E; Bouchard, Maxime; Khokha, Mustafa K; Shril, Shirlee; Hildebrandt, Friedhelm (Cell Press, 2020-10-01)
    Congenital anomalies of the kidney and urinary tract (CAKUT) constitute one of the most frequent birth defects and represent the most common cause of chronic kidney disease in the first three decades of life. Despite the ...
  • Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review 
    Durkin, Anna; Albaba, Shadi; Fry, Andrew E.; Morton, Jenny E.; Douglas, Andrew; Beleza, Ana; Williams, Denise; Volker-Touw, Catharina M.L.; Lynch, Sally A.; Canham, Natalie; Clowes, Virginia; Straub, Volker; Lachlan, Katherine; Gibbon, Frances; El Gamal, Mayy; Varghese, Vinod; Parker, Michael J.; Newbury-Ecob, Ruth; Turnpenny, Peter D.; Gardham, Alice; Ghali, Neeti; Balasubramanian, Meena (John Wiley & Sons Inc., 2020-07-01)
    With advances in genetic testing and improved access to such advances, whole exome sequencing is becoming a first-line investigation in clinical work-up of children with developmental delay/intellectual disability (ID). ...
  • Biomarkers of Dietary Omega-6 Fatty Acids and Incident Cardiovascular Disease and Mortality: An Individual-Level Pooled Analysis of 30 Cohort Studies 
    Marklund, Matti; Wu, Jason H.Y.; Imamura, Fumiaki; Del Gobbo, Liana C.; Fretts, Amanda; De Goede, Janette; Shi, Peilin; Tintle, Nathan; Wennberg, Maria; Aslibekyan, Stella; Chen, Tzu An; De Oliveira Otto, Marcia C.; Hirakawa, Yoichiro; Eriksen, Helle Højmark; Kröger, Janine; Laguzzi, Federica; Lankinen, Maria; Murphy, Rachel A.; Prem, Kiesha; Samieri, Cécilia; Virtanen, Jyrki; Wood, Alexis C.; Wong, Kerry; Yang, Wei Sin; Zhou, Xia; Baylin, Ana; Boer, Jolanda M.A.; Brouwer, Ingeborg A.; Campos, Hannia; Chaves, Paulo H.M.; Chien, Kuo Liong; De Faire, Ulf; Djoussé, Luc; Eiriksdottir, Gudny; El-Abbadi, Naglaa; Forouhi, Nita G.; Michael Gaziano, J.; Geleijnse, Johanna M.; Gigante, Bruna; Giles, Graham; Guallar, Eliseo; Gudnason, Vilmundur; Harris, Tamara; Harris, William S.; Helmer, Catherine; Hellenius, Mai Lis; Hodge, Allison; Hu, Frank B.; Jacques, Paul F.; Jansson, Jan Håkan; Kalsbeek, Anya; Khaw, Kay Tee; Koh, Woon Puay; Laakso, Markku; Leander, Karin; Lin, Hung Ju; Lind, Lars; Luben, Robert; Luo, Juhua; Mcknight, Barbara; Mursu, Jaakko; Ninomiya, Toshiharu; Overvad, Kim; Psaty, Bruce M.; Rimm, Eric; Schulze, Matthias B.; Siscovick, David; Skjelbo Nielsen, Michael; Smith, Albert V.; Steffen, Brian T.; Steffen, Lyn; Sun, Qi; Sundström, Johan; Tsai, Michael Y.; Tunstall-Pedoe, Hugh; Uusitupa, Matti I.J.; Van Dam, Rob M.; Veenstra, Jenna; Monique Verschuren, W. M.; Wareham, Nick; Willett, Walter; Woodward, Mark; Yuan, Jian Min; Micha, Renata; Lemaitre, Rozenn N.; Mozaffarian, Dariush; Risérus, Ulf (Lippincott Williams & Wilkins, 2019-05-21)
    Background: Global dietary recommendations for and cardiovascular effects of linoleic acid, the major dietary omega-6 fatty acid, and its major metabolite, arachidonic acid, remain controversial. To address this uncertainty ...
  • Trajectories of (Bio)markers during the development of cognitive frailty in the doetinchem cohort study 
    Rietman, M. Liset; Hulsegge, Gerben; Nooyens, Astrid C.J.; Dollé, Martijn E.T.; Picavet, H. Susan J.; Bakker, Stephan J.L.; Gansevoort, Ron T.; Spijkerman, Annemieke M.W.; Verschuren, W. M.Monique (Frontiers Media S. A., 2019)
    Background: Long-term changes in (bio)markers for cognitive frailty are not well characterized. Therefore, our aim is to explore (bio)marker trajectories in adults who became cognitively frail compared to age- and sex-matched ...
  • Top 10 research priorities in spatial lifecourse epidemiology 
    Jia, Peng; Lakerveld, Jeroen; Wu, Jianguo; Stein, Alfred; Root, Elisabeth D.; Sabel, Clive E.; Vermeulen, Roel; Remais, Justin V.; Chen, Xi; Brownson, Ross C.; Amer, Sherif; Xiao, Qian; Wang, Limin; Monique Verschuren, W. M.; Wu, Tong; Wang, Youfa; James, Peter (Public Health Services, US Dept of Health and Human Services, 2019-07)
    The International Initiative on Spatial Lifecourse Epidemiology (ISLE) convened its first International Symposium on Lifecourse Epidemiology and Spatial Science at the Lorentz Center in Leiden, Netherlands, 16–20 July 2018. ...
  • Pain over the adult life course: 15-year pain trajectories—The Doetinchem Cohort Study 
    Picavet, H. Susan J.; Monique Verschuren, W. M.; Groot, Lichelle; Schaap, Laura; van Oostrom, Sandra H. (John Wiley & Sons Inc., 2019-10-01)
    Background: Pain at any age is related to pain experienced at younger ages, but not much is known on how pain develops over the adult life course. We studied long-term individual trajectories of pain over 15 years of the ...
  • The Healthy Aging Index analyzed over 15 years in the general population: The Doetinchem Cohort Study 
    Dieteren, Charlotte M.; Samson, Leonard D.; Schipper, Maarten; van Exel, Job; Brouwer, Werner B.F.; Verschuren, W. M.Monique; Picavet, H. Susan J. (Academic Press Inc., 2020-10)
    The Healthy Aging Index (HAI), an index of physiological aging, has been demonstrated to predicts mortality, morbidity and disability. We studied the longitudinal development of the HAI to identify aging trajectories and ...
  • In-depth immune cellular profiling reveals sex-specific associations with frailty 
    Samson, Leonard Daniël; A, A. Mieke; Ferreira, José A.; H, H. Susan; De Rond, Lia G.H.; De Zeeuw-Brouwer, Mary Lène; Monique Verschuren, W. M.; Buisman, Anne Marie; Engelfriet, Peter (BioMed Central, 2020-06-23)
    Background: With advancing age, the composition of leukocyte subpopulations in peripheral blood is known to change, but how this change differs between men and women and how it relates to frailty is poorly understood. Our ...
  • Deep phenotyping meets big data: the Geoscience and hEalth Cohort COnsortium (GECCO) data to enable exposome studies in The Netherlands 
    GECCO Consortium (BioMed Central Ltd., 2020-11-13)
    Environmental exposures are increasingly investigated as possible drivers of health behaviours and disease outcomes. So-called exposome studies that aim to identify and better understand the effects of exposures on behaviours ...
  • De dermatoloog als medisch adviseur van een huidpatiëntenvereniging: Een leidraad 
    Van Everdingen, J. J.E.; Meulenberg, F.; Sigurdsson, V.; Gostynski, A. H. (DCHG Partners in Mediscne Communicatie, 2020)
  • Feasibility of ActivABLES to promote home-based exercise and physical activity of community-dwelling stroke survivors with support from caregivers: A mixed methods study 
    Olafsdottir, Steinunn A.; Jonsdottir, Helga; Bjartmarz, Ingibjörg; Magnusson, Charlotte; Caltenco, Héctor; Kytö, Mikko; Maye, Laura; McGookin, David; Arnadottir, Solveig Asa; Hjaltadottir, Ingibjörg; Hafsteinsdottir, Thora B. (BioMed Central, 2020-06-22)
    Background: Technical applications can promote home-based exercise and physical activity of community-dwelling stroke survivors. Caregivers are often able and willing to assist with home-based exercise and physical activity ...
  • Stroke survivors’ experiences with rebuilding life in the community and exercising at home: A qualitative study 
    van Dongen, Lisa; Hafsteinsdóttir, Thóra B.; Parker, Ethna; Bjartmarz, Ingibjörg; Hjaltadóttir, Ingibjörg; Jónsdóttir, Helga (Wiley-Blackwell Publishing Ltd, 2021-09)
    Aim: This study aimed to explore how stroke survivors deal with stroke-related impairments when rebuilding their lives in the community and their experiences of exercising at home. Design: An explorative and descriptive ...
  • Calnexin Depletion by Endoplasmic Reticulum Stress During Cholestasis Inhibits the Na+-Taurocholate Cotransporting Polypeptide 
    Robin, Marion J.D.; Appelman, Monique D.; Vos, Harmjan R.; van Es, Robert M.; Paton, James C.; Paton, Adrienne W.; Burgering, Boudewijn; Fickert, Peter; Heijmans, Jarom; van de Graaf, Stan F.J. (Lippincott Williams & Wilkins, 2018-12)
    Cholestasis-induced accumulation of bile acids in the liver leads to farnesoid X receptor (FXR)-mediated transcriptional down-regulation of the bile acid importer Na+-taurocholate cotransporting protein (NTCP) and to ...
  • The Lipid Raft Component Stomatin Interacts with the Na+ Taurocholate Cotransporting Polypeptide (NTCP) and Modulates Bile Salt Uptake 
    Appelman, Monique D.; Robin, Marion J.D.; Vogels, Esther W.M.; Wolzak, Christie; Vos, Winnie G.; Vos, Harmjan R.; Van Es, Robert M.; Burgering, Boudewijn M.T.; Van de Graaf, Stan F.J. (Multidisciplinary Digital Publishing Institute (MDPI), 2020-04-16)
    The sodium taurocholate cotransporting polypeptide (NTCP) is expressed at the basolateral membrane of hepatocytes, where it mediates the uptake of conjugated bile acids and forms the hepatocyte entry receptor for the ...
  • Sex differences in risk factors for myocardial infarction: cohort study of UK Biobank participants 
    Millett, Elizabeth R C; Peters, Sanne A E; Woodward, Mark (BMJ Publishing Group, 2018-11-01)
    OBJECTIVES: To investigate sex differences in risk factors for incident myocardial infarction (MI) and whether they vary with age. DESIGN: Prospective population based study. SETTING: UK Biobank. PARTICIPANTS: 471 998 ...
  • Sex Differences in the Prevalence of, and Trends in, Cardiovascular Risk Factors, Treatment, and Control in the United States, 2001 to 2016 
    Peters, Sanne A E; Muntner, Paul; Woodward, Mark (Lippincott Williams & Wilkins, 2019-02-19)
    BACKGROUND: Improvements have been made in the treatment and control of some but not all major cardiovascular risk factors in the United States. It remains unclear whether women and men have benefited equally. METHODS: ...
  • Trends in recruitment of women and reporting of sex differences in large-scale published randomized controlled trials in stroke 
    Carcel, Cheryl; Woodward, Mark; Balicki, Grace; Koroneos, Georgia Louise; Sousa, Diana Aguiar de; Cordonnier, Charlotte; Lukaszyk, Caroline; Thompson, Kelly; Wang, Xia; Davies, Leo; Bassi, Meenakshi; Anderson, Craig S; Peters, Sanne Ae; Sandset, Else Charlotte (SAGE Publications Ltd, 2019-12)
    BACKGROUND: Understanding of sex differences, especially in terms of the influence of sex on therapeutic interventions, can lead to improved treatment and management for all. AIM: We examined temporal and regional trends ...
  • Causal relationships between obesity and the leading causes of death in women and men 
    Censin, Jenny C; Peters, Sanne A E; Bovijn, Jonas; Ferreira, Teresa; Pulit, Sara L; Mägi, Reedik; Mahajan, Anubha; Holmes, Michael V; Lindgren, Cecilia M (Public Library of Science, 2019-10)
    Obesity traits are causally implicated with risk of cardiometabolic diseases. It remains unclear whether there are similar causal effects of obesity traits on other non-communicable diseases. Also, it is largely unexplored ...