Accès ouvert déclaré
2023
article
The Rare and Atypical Diabetes Network (RADIANT) Study: Design and Early Results
Ashok Balasubramanyam, María J. Redondo, William Craigen, Hongzheng Dai, ANSLEY E. DAVIS, Dimpi Desai, Monica Dussan, Jordana Faruqi, Ruchi Gaba, Iliana Gonzalez, Shalini N. Jhangiani, Elizabeth Kubota-Mishra, Pengfei Liu, David R. Murdock, Jennifer E. Posey, Nalini Ram, Aniko Sabo, Stephanie Sisley, Mustafa Tosur, Eric Venner, Marcela Astudillo, Adriana Cardenas, Mary Ann Fang, E. Gonzalez Hattery, Adrienne Ideouzu, Julizza Jimenez, Nupur Kikani, Graciela Montes, Nikalina G. O’Brien, Lee‐Jun C. Wong, Robin Goland, Wendy K. Chung, Anabel Evans, Rachelle Gandica, Rudolph L. Leibel, Kaisha Mofford, James Pring, Carmella Evans‐Molina, Gabriela Monaco, Anna Neyman, Zeb Saeed, Emily K. Sims, Maria Spall, Marimar Hernández‐Pérez, Kieren J. Mather, Kelly Moors, Miriam S. Udler, José C. Florez, MELISSA M. CALVERLEY, Victoria Chen, Kathy Chu, Sara J. Cromer, Aaron J. Deutsch, Mariella Faciebene, Evelyn Greaux, Dorit Koren, Raymond J. Kreienkamp, Mary Larkin, William Marshall, Pam Ricevuto, Amy Sabean, Nopporn Thangthaeng, Christopher Han, Jordan S. Sherwood, Liana K. Billings, Mary Ann Banerji, Kylnt Bally, N.M. Brown, Beisi Ji, Lina Soni, Melissa Lee, Jennifer Abrams, Lorraine Thomas, Samara Skiwiersky, Louis H. Philipson, Siri Atma W. Greeley, Graeme I. Bell, Shanna Banogon, Jui Desai, David A. Ehrmann, Lisa R. Letourneau, Rochelle N. Naylor, Erin Papciak, Lainie Friedman Ross, Manu Sundaresan, Colleen Bender, Persephone Tian, Neda Rasouli, Mohsen Bahmani Kashkouli, Chelsea Baker, Andrew Her, Courtney King, Avinash Pyreddy, Vatsala Singh, Jules Barklow, Noosha Farhat, R. Lorch, Carter Odean, Gregory Schleis, Chantal Underkofler, Toni I. Pollin, Hadley Bryan, Kristin A. Maloney, Ryan S. Miller, Paula Newton, Maria Nikita, Devon Nwaba, Kristi D. Silver, Jessica C. Tiner, Hilary B. Whitlatch, Kathleen Palmer, Stephanie Riley, Elizabeth A. Streeten, Elif A Oral, D R Broome, ANABELA DILL GOMES, Maria Foss de Freitas, Brigid Gregg, Seda Grigoryan, Salman Imam, Melda Sonmez Ince, Adam Neidert, Carman Richison, Barış Akıncı, Rita Hench, John B. Buse, Chase Armstrong, Chad Christensen, Jamie Diner, Rachael Fraser, Karla Fulghum, Tahereh Ghorbani, Alex Kass, Klara R. Klein, M. Sue Kirkman, Irl B. Hirsch, Jesica Baran, Xiaofu Dong, Steven E. Kahn, Dori Khakpour, Patali Mandava, Lori Sameshima, Thanmai Kalerus, Catherine Pihoker, Beth Loots, Kathleen Santarelli, Cisco Pascual, Kevin D. Niswender, Norma Edwards, Justin M. Gregory, Alvin C. Powers, Jennifer Scott, Jordan Smith, Fumihiko Urano, Jing W. Hughes, Stacy Hurst, Janet B. McGill, Stephen Stone, Jennifer May, Jeffrey P. Krischer, Rajesh Adusumalli, Bruce Albritton, Analía Aquino, Paul Bransford, Nicholas Cadigan, Laura Gandolfo, Jennifer Garmeson, Joseph Gomes, Robert Gowing, Christina Karges, Callyn A. Kirk, Sarah Müller, Jean Morissette, Hemang Parikh, Francisco Perez-Laras, Cassandra Remedios, Pablo Ruiz, Noah Sulman, Michael J. Toth, Lili Wurmser, Christopher Eberhard, Steven Fiske, Brandy Hutchinson, Sidhvi Nekkanti, Rebecca Wood, Ahmed Alkanaq, MacKenzie Brandes, Noël P. Burtt, Jason Flannick, Phebe Olorunfemi, Lizz Caulkins, Clive Wasserfall, William E. Winter, David W. Pittman, Beena Akolkar, Christine U. Lee, David J. Carey, Daniel Hood, Santica M. Marcovina, Christopher B. Newgard
18Citations signalées — pas une note de qualité
7Institutions déclarées
2Pays d’affiliation déclarés
Résumé fourni par la source
OBJECTIVE: The Rare and Atypical Diabetes Network (RADIANT) will perform a study of individuals and, if deemed informative, a study of their family members with uncharacterized forms of diabetes. RESEARCH DESIGN AND METHODS: The protocol includes genomic (whole-genome [WGS], RNA, and mitochondrial sequencing), phenotypic (vital signs, biometric measurements, questionnaires, and photography), metabolomics, and metabolic assessments. RESULTS: Among 122 with WGS results of 878 enrolled individuals, a likely pathogenic variant in a known diabetes monogenic gene was found in 3 (2.5%), and six new monogenic variants have been identified in the SMAD5, PTPMT1, INS, NFKB1, IGF1R, and PAX6 genes. Frequent phenotypic clusters are lean type 2 diabetes, autoantibody-negative and insulin-deficient diabetes, lipodystrophic diabetes, and new forms of possible monogenic or oligogenic diabetes. CONCLUSIONS: The analyses will lead to improved means of atypical diabetes identification. Genetic sequencing can identify new variants, and metabolomics and transcriptomics analysis can identify novel mechanisms and biomarkers for atypical disease.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- The Rare and Atypical Diabetes Network (RADIANT) Study: Design and Early Results
- Date Crossref
- 27/04/2023
- Éditeur
- American Diabetes Association
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude et ne compte pas comme une seconde source scientifique indépendante.
Institutions déclarées
Une affiliation ne permet pas de déduire la nationalité d’un auteur.
Sujets associés
Pancreatic function and diabetesGenetic Associations and EpidemiologyGenomics and Rare Diseases