Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community

Authors: Pedro Granjo, Carlota Pascoal, Diana Gallego, Rita Francisco, Jaak Jaeken, Tristen Moors, Andrew C. Edmondson, Kristin A. Kantautas, Mercedes Serrano, Paula A. Videira, Vanessa dos Reis Ferreira

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-17 (2024)

Subject Terms: Congenital disorders of glycosylation (CDG), Patient journey, Diagnostic odyssey journey, Community-centered research, Rare diseases, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/3cdd2f60fd6f4e29b8ff4316b5846dbb

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.

Authors: Zari Dastani, Marie-France Hivert, Nicholas Timpson, John R B Perry, Xin Yuan, Robert A Scott, Peter Henneman, Iris M Heid, Jorge R Kizer, Leo-Pekka Lyytikäinen, Christian Fuchsberger, Toshiko Tanaka, Andrew P Morris, Kerrin Small, Aaron Isaacs, Marian Beekman, Stefan Coassin, Kurt Lohman, Lu Qi, Stavroula Kanoni, James S Pankow, Hae-Won Uh, Ying Wu, Aurelian Bidulescu, Laura J Rasmussen-Torvik, Celia M T Greenwood, Martin Ladouceur, Jonna Grimsby, Alisa K Manning, Ching-Ti Liu, Jaspal Kooner, Vincent E Mooser, Peter Vollenweider, Karen A Kapur, John Chambers, Nicholas J Wareham, Claudia Langenberg, Rune Frants, Ko Willems-Vandijk, Ben A Oostra, Sara M Willems, Claudia Lamina, Thomas W Winkler, Bruce M Psaty, Russell P Tracy, Jennifer Brody, Ida Chen, Jorma Viikari, Mika Kähönen, Peter P Pramstaller, David M Evans, Beate St Pourcain, Naveed Sattar, Andrew R Wood, Stefania Bandinelli, Olga D Carlson, Josephine M Egan, Stefan Böhringer, Diana van Heemst, Lyudmyla Kedenko, Kati Kristiansson, Marja-Liisa Nuotio, Britt-Marie Loo, Tamara Harris, Melissa Garcia, Alka Kanaya, Margot Haun, Norman Klopp, H-Erich Wichmann, Panos Deloukas, Efi Katsareli, David J Couper, Bruce B Duncan, Margreet Kloppenburg, Linda S Adair, Judith B Borja, DIAGRAM+ Consortium, MAGIC Consortium, GLGC Investigators, MuTHER Consortium, James G Wilson, Solomon Musani, Xiuqing Guo, Toby Johnson, Robert Semple, Tanya M Teslovich, Matthew A Allison, Susan Redline, Sarah G Buxbaum, Karen L Mohlke, Ingrid Meulenbelt, Christie M Ballantyne, George V Dedoussis, Frank B Hu, Yongmei Liu, Bernhard Paulweber, Timothy D Spector, P Eline Slagboom, Luigi Ferrucci, Antti Jula, Markus Perola, Olli Raitakari, Jose C Florez, Veikko Salomaa, Johan G Eriksson, Timothy M Frayling, Andrew A Hicks, Terho Lehtimäki, George Davey Smith, David S Siscovick, Florian Kronenberg, Cornelia van Duijn, Ruth J F Loos, Dawn M Waterworth, James B Meigs, Josee Dupuis, J Brent Richards, Benjamin F Voight, Laura J Scott, Valgerdur Steinthorsdottir, Christian Dina, Ryan P Welch, Eleftheria Zeggini, Cornelia Huth, Yurii S Aulchenko, Gudmar Thorleifsson, Laura J McCulloch, Teresa Ferreira, Harald Grallert, Najaf Amin, Guanming Wu, Cristen J Willer, Soumya Raychaudhuri, Steve A McCarroll, Oliver M Hofmann, Ayellet V Segrè, Mandy van Hoek, Pau Navarro, Kristin Ardlie, Beverley Balkau, Rafn Benediktsson, Amanda J Bennett, Roza Blagieva, Eric Boerwinkle, Lori L Bonnycastle, Kristina Bengtsson Boström, Bert Bravenboer, Suzannah Bumpstead, Noël P Burtt, Guillaume Charpentier, Peter S Chines, Marilyn Cornelis, Gabe Crawford, Alex S F Doney, Katherine S Elliott, Amanda L Elliott, Michael R Erdos, Caroline S Fox, Christopher S Franklin, Martha Ganser, Christian Gieger, Niels Grarup, Todd Green, Simon Griffin, Christopher J Groves, Candace Guiducci, Samy Hadjadj, Neelam Hassanali, Christian Herder, Bo Isomaa, Anne U Jackson, Paul R V Johnson, Torben Jørgensen, Wen H L Kao, Augustine Kong, Peter Kraft, Johanna Kuusisto, Torsten Lauritzen, Man Li, Aloysius Lieverse, Cecilia M Lindgren, Valeriya Lyssenko, Michel Marre, Thomas Meitinger, Kristian Midthjell, Mario A Morken, Narisu Narisu, Peter Nilsson, Katharine R Owen, Felicity Payne, Ann-Kristin Petersen, Carl Platou, Christine Proença, Inga Prokopenko, Wolfgang Rathmann, N William Rayner, Neil R Robertson, Ghislain Rocheleau, Michael Roden, Michael J Sampson, Richa Saxena, Beverley M Shields, Peter Shrader, Gunnar Sigurdsson, Thomas Sparsø, Klaus Strassburger, Heather M Stringham, Qi Sun, Amy J Swift, Barbara Thorand, Jean Tichet, Tiinamaija Tuomi, Rob M van Dam, Timon W van Haeften, Thijs van Herpt, Jana V van Vliet-Ostaptchouk, G Bragi Walters, Michael N Weedon, Cisca Wijmenga, Jacqueline Witteman, Richard N Bergman, Stephane Cauchi, Francis S Collins, Anna L Gloyn, Ulf Gyllensten, Torben Hansen, Winston A Hide, Graham A Hitman, Albert Hofman, David J Hunter, Kristian Hveem, Markku Laakso, Andrew D Morris, Colin N A Palmer, Igor Rudan, Eric Sijbrands, Lincoln D Stein, Jaakko Tuomilehto, Andre Uitterlinden, Mark Walker, Richard M Watanabe, Goncalo R Abecasis, Bernhard O Boehm, Harry Campbell, Mark J Daly, Andrew T Hattersley, Oluf Pedersen, Inês Barroso, Leif Groop, Rob Sladek, Unnur Thorsteinsdottir, James F Wilson, Thomas Illig, Philippe Froguel, Cornelia M van Duijn, Kari Stefansson, David Altshuler, Michael Boehnke, Mark I McCarthy, Nicole Soranzo, Eleanor Wheeler, Nicole L Glazer, Nabila Bouatia-Naji, Reedik Mägi, Joshua Randall, Paul Elliott, Denis Rybin, Abbas Dehghan, Jouke Jan Hottenga, Kijoung Song, Anuj Goel, Taina Lajunen, Alex Doney, Christine Cavalcanti-Proença, Meena Kumari, Nicholas J Timpson, Carina Zabena, Erik Ingelsson, Ping An, Jeffrey O'Connell, Jian'an Luan, Amanda Elliott, Steven A McCarroll, Rosa Maria Roccasecca, François Pattou, Praveen Sethupathy, Yavuz Ariyurek, Philip Barter, John P Beilby, Yoav Ben-Shlomo, Sven Bergmann, Murielle Bochud, Amélie Bonnefond, Knut Borch-Johnsen, Yvonne Böttcher, Eric Brunner, Suzannah J Bumpstead, Yii-Der Ida Chen, Peter Chines, Robert Clarke, Lachlan J M Coin, Matthew N Cooper, Laura Crisponi, Ian N M Day, Eco J C de Geus, Jerome Delplanque, Annette C Fedson, Antje Fischer-Rosinsky, Nita G Forouhi, Maria Grazia Franzosi, Pilar Galan, Mark O Goodarzi, Jürgen Graessler, Scott Grundy, Rhian Gwilliam, Göran Hallmans, Naomi Hammond, Xijing Han, Anna-Liisa Hartikainen, Caroline Hayward, Simon C Heath, Serge Hercberg, David R Hillman, Aroon D Hingorani, Jennie Hui, Joe Hung, Marika Kaakinen, Jaakko Kaprio, Y Antero Kesaniemi, Mika Kivimaki, Beatrice Knight, Seppo Koskinen, Peter Kovacs, Kirsten Ohm Kyvik, G Mark Lathrop, Debbie A Lawlor, Olivier Le Bacquer, Cécile Lecoeur, Yun Li, Robert Mahley, Massimo Mangino, María Teresa Martínez-Larrad, Jarred B McAteer, Ruth McPherson, Christa Meisinger, David Melzer, David Meyre, Braxton D Mitchell, Sutapa Mukherjee, Silvia Naitza, Matthew J Neville, Marco Orrù, Ruth Pakyz, Giuseppe Paolisso, Cristian Pattaro, Daniel Pearson, John F Peden, Nancy L Pedersen, Andreas F H Pfeiffer, Irene Pichler, Ozren Polasek, Danielle Posthuma, Simon C Potter, Anneli Pouta, Michael A Province, Nigel W Rayner, Kenneth Rice, Samuli Ripatti, Fernando Rivadeneira, Olov Rolandsson, Annelli Sandbaek, Manjinder Sandhu, Serena Sanna, Avan Aihie Sayer, Paul Scheet, Udo Seedorf, Stephen J Sharp, Beverley Shields, Gunnar Sigurðsson, Eric J G Sijbrands, Angela Silveira, Laila Simpson, Andrew Singleton, Nicholas L Smith, Ulla Sovio, Amy Swift, Holly Syddall, Ann-Christine Syvänen, Anke Tönjes, André G Uitterlinden, Ko Willems van Dijk, Dhiraj Varma, Sophie Visvikis-Siest, Veronique Vitart, Nicole Vogelzangs, Gérard Waeber, Peter J Wagner, Andrew Walley, Kim L Ward, Hugh Watkins, Sarah H Wild, Gonneke Willemsen, Jaqueline C M Witteman, John W G Yarnell, Diana Zelenika, Björn Zethelius, Guangju Zhai, Jing Hua Zhao, M Carola Zillikens, DIAGRAM Consortium, GIANT Consortium, Global B Pgen Consortium, Ingrid B Borecki, Pierre Meneton, Patrik K E Magnusson, David M Nathan, Gordon H Williams, Kaisa Silander, Stefan R Bornstein, Peter Schwarz, Joachim Spranger, Fredrik Karpe, Alan R Shuldiner, Cyrus Cooper, Manuel Serrano-Ríos, Lars Lind, Lyle J Palmer, Paul W Franks, Shah Ebrahim, Michael Marmot, W H Linda Kao, Peter Paul Pramstaller, Alan F Wright, Michael Stumvoll, Anders Hamsten, Procardis Consortium, Thomas A Buchanan, Timo T Valle, Jerome I Rotter, Brenda W J H Penninx, Dorret I Boomsma, Antonio Cao, Angelo Scuteri, David Schlessinger, Manuela Uda, Aimo Ruokonen, Marjo-Riitta Jarvelin, Leena Peltonen, Vincent Mooser, Robert Sladek, MAGIC investigators, GLGC Consortium, Kiran Musunuru, Albert V Smith, Andrew C Edmondson, Ioannis M Stylianou, Masahiro Koseki, James P Pirruccello, Daniel I Chasman, Christopher T Johansen, Sigrid W Fouchier, Gina M Peloso, Maja Barbalic, Sally L Ricketts, Joshua C Bis, Mary F Feitosa, Marju Orho-Melander, Olle Melander, Xiaohui Li, Mingyao Li, Yoon Shin Cho, Min Jin Go, Young Jin Kim, Jong-Young Lee, Taesung Park, Kyunga Kim, Xueling Sim, Rick Twee-Hee Ong, Damien C Croteau-Chonka, Leslie A Lange, Joshua D Smith, Andreas Ziegler, Weihua Zhang, Robert Y L Zee, John B Whitfield, John R Thompson, Ida Surakka, Tim D Spector, Johannes H Smit, Juha Sinisalo, James Scott, Juha Saharinen, Chiara Sabatti, Lynda M Rose, Robert Roberts, Mark Rieder, Alex N Parker, Guillaume Pare, Christopher J O'Donnell, Markku S Nieminen, Deborah A Nickerson, Grant W Montgomery, Wendy McArdle, David Masson, Nicholas G Martin, Fabio Marroni, Gavin Lucas, Robert Luben, Marja-Liisa Lokki, Guillaume Lettre, Lenore J Launer, Edward G Lakatta, Reijo Laaksonen, Kirsten O Kyvik, Inke R König, Kay-Tee Khaw, Lee M Kaplan, Åsa Johansson, A Cecile J W Janssens, Wilmar Igl, G Kees Hovingh, Christian Hengstenberg, Aki S Havulinna, Nicholas D Hastie, Tamara B Harris, Talin Haritunians, Alistair S Hall, Leif C Groop, Elena Gonzalez, Nelson B Freimer, Jeanette Erdmann, Kenechi G Ejebe, Angela Döring, Anna F Dominiczak, Serkalem Demissie, Panagiotis Deloukas, Ulf de Faire, Gabriel Crawford, Yii-der I Chen, Mark J Caulfield, S Matthijs Boekholdt, Themistocles L Assimes, Thomas Quertermous, Mark Seielstad, Tien Y Wong, E-Shyong Tai, Alan B Feranil, Christopher W Kuzawa, Herman A Taylor, Stacey B Gabriel, Hilma Holm, Vilmundur Gudnason, Ronald M Krauss, Jose M Ordovas, Patricia B Munroe, Jaspal S Kooner, Alan R Tall, Robert A Hegele, John J P Kastelein, Eric E Schadt, David P Strachan, Muredach P Reilly, Nilesh J Samani, Heribert Schunkert, L Adrienne Cupples, Manjinder S Sandhu, Paul M Ridker, Daniel J Rader, Sekar Kathiresan

Source: PLoS Genetics, Vol 8, Iss 3, p e1002607 (2012)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22479202/?tool=EBI; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/d72a07536f4c468e8ab94500a1e663a5

Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol.

Authors: Sumeet A Khetarpal, Andrew C Edmondson, Avanthi Raghavan, Hemanth Neeli, Weijun Jin, Karen O Badellino, Serkalem Demissie, Alisa K Manning, Stephanie L DerOhannessian, Megan L Wolfe, L Adrienne Cupples, Mingyao Li, Sekar Kathiresan, Daniel J Rader

Source: PLoS Genetics, Vol 7, Iss 12, p e1002393 (2011)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3234219?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/8463f57c46354c87b8d36d7127f06136

Pathway-wide association study implicates multiple sterol transport and metabolism genes in HDL cholesterol regulation

Authors: Kai eWang, Andrew C Edmondson, Mingyao eLi, Fan eGao, Atif N Qasim, Joseph M Devaney, Mary Susan eBurnett, Dawn M Waterworth, Vincent eMooser, Struan F.A. Grant, Stephen E Epstein, Muredach P Reilly, Hakon eHakonarson, Daniel J Rader

Source: Frontiers in Genetics, Vol 2 (2011)

Subject Terms: Cholesterol, GWAS, Genetic association, Lipid, pathway analysis, sterol metabolism, Genetics, QH426-470

File Description: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fgene.2011.00041/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/d5afcdaddd7d425184617cc85a6f09d5

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies.

Authors: Brendan J Keating, Sam Tischfield, Sarah S Murray, Tushar Bhangale, Thomas S Price, Joseph T Glessner, Luana Galver, Jeffrey C Barrett, Struan F A Grant, Deborah N Farlow, Hareesh R Chandrupatla, Mark Hansen, Saad Ajmal, George J Papanicolaou, Yiran Guo, Mingyao Li, Stephanie Derohannessian, Paul I W de Bakker, Swneke D Bailey, Alexandre Montpetit, Andrew C Edmondson, Kent Taylor, Xiaowu Gai, Susanna S Wang, Myriam Fornage, Tamim Shaikh, Leif Groop, Michael Boehnke, Alistair S Hall, Andrew T Hattersley, Edward Frackelton, Nick Patterson, Charleston W K Chiang, Cecelia E Kim, Richard R Fabsitz, Willem Ouwehand, Alkes L Price, Patricia Munroe, Mark Caulfield, Thomas Drake, Eric Boerwinkle, David Reich, A Stephen Whitehead, Thomas P Cappola, Nilesh J Samani, A Jake Lusis, Eric Schadt, James G Wilson, Wolfgang Koenig, Mark I McCarthy, Sekar Kathiresan, Stacey B Gabriel, Hakon Hakonarson, Sonia S Anand, Muredach Reilly, James C Engert, Deborah A Nickerson, Daniel J Rader, Joel N Hirschhorn, Garret A Fitzgerald

Source: PLoS ONE, Vol 3, Iss 10, p e3583 (2008)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC2571995?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/20a3c01d6d394132abfac9f27abb03be

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study

Authors: Peter Witters, Andrew C. Edmondson, Christina Lam, Christin Johnsen, Marc C. Patterson, Kimiyo M. Raymond, Miao He, Hudson H. Freeze, Eva Morava

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-5 (2021)

Subject Terms: Phosphomannomutase 2, Congenital disorders of glycosylation, PMM2-CDG, Natural history study, Transferrin, Biomarker, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/41e06f0bf6614be19ee60576819b8b92

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up

Authors: Rodrigo Tzovenos Starosta, Suzanne Boyer, Shawn Tahata, Kimiyo Raymond, Hee Eun Lee, Lynne A. Wolfe, Christina Lam, Andrew C. Edmondson, Ida Vanessa Doederlein Schwartz, Eva Morava

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

Subject Terms: CDG, Liver injury, Phosphomannomutase-2, Liver fibrosis, Cirrhosis, Phenotyping, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/bbbb21ff54734a959fa4e0bc325550d8

X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder

Authors: Barbara Terzic, Yue Cui, Andrew C. Edmondson, Sheng Tang, Nicolas Sarmiento, Daria Zaitseva, Eric D. Marsh, Douglas A. Coulter, Zhaolan Zhou

Source: Neurobiology of Disease, Vol 148, Iss , Pp 105176- (2021)

Subject Terms: CDKL5, Seizures, Mouse models of epilepsy, Neurodevelopmental disorders, X-linked mosaicism, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996120304514; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/bbfc407132014f8e9a4c34011aec79ba

Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

Authors: Jessica R. C. Priestley, Laura A. Adang, Sarah Drewes Williams, Uta Lichter-Konecki, Caitlin Menello, Nicole M. Engelhardt, James C. DiPerna, Brenda DiBoscio, Rebecca C. Ahrens-Nicklas, Andrew C. Edmondson, Francis Jeshira Reynoso Santos, Can Ficicioglu

Source: International Journal of Neonatal Screening, Vol 8, Iss 2, p 24 (2022)

Subject Terms: X-linked adrenoleukodystrophy, X-ALD, C26:0, ABCD1, newborn screening, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.mdpi.com/2409-515X/8/2/24; https://doaj.org/toc/2409-515X

Access URL: https://doaj.org/article/018239cea8904a618109a82df3f1a1e3

A naturally occurring variant of endothelial lipase associated with elevated HDL exhibits impaired synthesis[S]

Authors: Robert J. Brown, Andrew C. Edmondson, Nathalie Griffon, Theophelus B. Hill, Ilia V. Fuki, Karen O. Badellino, Mingyao Li, Megan L. Wolfe, Muredach P. Reilly, Daniel J. Rader

Source: Journal of Lipid Research, Vol 50, Iss 9, Pp 1910-1916 (2009)

Subject Terms: high density lipoprotein, human subjects, single nucleotide polymorphism, protein translation, lysosomal degradation, proteosomal degradation, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520307434; https://doaj.org/toc/0022-2275

Access URL: https://doaj.org/article/7d10c1539f4b4dbfbbb22ffceaeed144

Contributors

Authors: Gathi, Abraham, Sun-Young, Ahn, Rasheda, Amin, Anne L., Angiolillo, Rami A., Ballout, Khadija, Belhassan, Michael J., Bennett, Julie, Berg, Ajay, Bhatia, Janetta, Bryksin, Carlos, Castillo-Pinto, Amaziah, Coleman, Ferdinand, Coste, Jeffrey G., Dawson, Edgard E., Delvin, Yaser, Diab, Dennis J., Dietzen, Marc T., DiSabella, Andrew C., Edmondson, Michael, Edzards, Thomas, Ferkol, Gabriela (Paula), Finkielstain, Mary E., Fournier, Andrea, Gaedigk, Uttam, Garg, Sarah K., Garwood, Emily L., Gill, Jorge L., Granadillo, Michael F., Guerrera, Shannon, Haymond, Paul S., Hiers, Alyssa, James, Janis M., Stoll, Jill D., Jacobson, Andrew, Janowski, Smita, Jha, Patricia M., Jones, Jami L., Josefson, Randall K., Julian, Lawrence, Jung, Sakil, Kulkarni, Finza, Latif, Courtney, Lawrence, Van, Leung-Pineda, Fabien, Magne, Stephen R., Master, Emily Riehm, Meier, Deborah, Merke, Asha, Moudgil, Khushbu, Patel, Wendy M., Paul, Rowena, Punzalan, Scott, Raskin, Kimiyo, Raymond, Alan T., Remaley, Mary, Revenis, Adelaide, Robb, Stephen M., Roper, Blachy J. Dávila, Saldaña, Maryam, Salehi, Tracy L., Sandritter, Hemant, Sharma, Troy, Tenney, Silvia, Tortorelli, Akshaya, Vachharajani, Guy, Van Vliet, Amy L., White, William E., Winter, Edward C.C., Wong

Source: In Biochemical and Molecular Basis of Pediatric Disease Edition: Fifth Edition. 2021:xxxiii-xxxviii