Results 61 to 70 of about 2,254,317 (172)
Infantile exocrine pancreatic insufficiency due to a homozygous SPINK1 pathogenic variant in two siblings: A case report
JPGN Reports, EarlyView.Abstract
Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.France Chalon, Angélique Lhomme, Marie Léonard, Laura Zambelli, Serpil Alkan, Corinne Fasquelle, Aimé Lumaka, Guillaume Debray, Vincent Bours, Julie Frère, Emeline Bequet +10 morewiley +1 more sourceFurther evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. [PDF]
, 2018 Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman-Diamond syndrome (SDS), with the functional interplay between EFL1 and the previously known causative gene SBDS accounting for the similarity in clinical features. Relatively little Bacino, Carlos A, Bonner, Melanie J, Butler, Megan W, Cope, Heidi, Frush, Donald P, Jiang, Yong-Hui, Lachman, Ralph S, Lee, Brendan, McCall, Chad M, McDonald, Marie T, Pena, Loren DM, Pendse, Avani A, Rothman, Jennifer A, Shashi, Vandana, Spillmann, Rebecca C, Stong, Nicholas, Tan, Queenie K-G, Undiagnosed Diseases Network, Walley, Nicole +18 morecore Indications for pediatric hematopoietic stem cell transplantation: consensus presented at the First Meeting on Brazilian Hematopoietic Stem Cell Transplantation Guidelines - Brazilian Society of Bone Marrow Transplantation, Rio de Janeiro, 2009 [PDF]
, 2010 The Brazilian Bone Marrow Transplant Society (SBTMO) held its First Meeting on Bone Marrow Transplant Guidelines in 2009. A working group of hematologists and oncologists with experience in pediatrics was formed to review evidence-based indications for ...Bonfim, Carmem Maria S., Castro Jr, Claudio G., Daudt, Liane E., Ginani, Valéria C., Gouveia, Roseane Vasconcelos, Mauad, Marcos, Seber, Adriana +6 morecore +1 more sourceLiver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome
Orphanet Journal of Rare Diseases, 2018 Vitamin A intoxication is a rare cause of liver disease, but the risk increases in patients with underlying liver dysfunction. We present a patient with Shwachman-Diamond Syndrome who developed liver fibrosis, portal hypertension and very severe ...Giorgia Bucciol, David Cassiman, Tania Roskams, Marleen Renard, Ilse Hoffman, Peter Witters, Rik Schrijvers, Heidi Schaballie, Barbara Bosch, Maria Caterina Putti, Olivier Gheysens, Noel Knops, Marc Gewillig, Djalila Mekahli, Jacques Pirenne, Isabelle Meyts +15 moredoaj +1 more sourceMechanism of eIF6 release from the nascent 60S ribosomal subunit. [PDF]
, 2015 SBDS protein (deficient in the inherited leukemia-predisposition disorder Shwachman-Diamond syndrome) and the GTPase EFL1 (an EF-G homolog) activate nascent 60S ribosomal subunits for translation by catalyzing eviction of the antiassociation factor eIF6 ...A Amunts, A Ben-Shem, A Roy, A Savchenko, A Seshadri, A Weixlbaumer, AD Mackerell Jr., AD MacKerell Jr., AJ Finch, Alan J Warren, AM Anger, B Bradatsch, B Senger, BJ Greber, BJ Greber, BP Klaholz, BS Strunk, C Bussiere, C Shammas, CC Wong, Chi C Wong, Christine Hilcenko, CL Ng, David Traynor, DN Wilson, E Krissinel, EF Pettersen, Emmanuel Giudice, F Jossinet, Félix Weis, G Tang, GR Boocock, H Khatter, J Donadieu, J Hedges, J Sengupta, JA Mindell, JC Phillips, JS Graindorge, K De Keersmaecker, KY Lo, L Lancaster, LG Trabuco, Li Jin, M Ceci, M Gartmann, M van Heel, MA Larkin, Mark Churcher, N Ban, N Gao, P Emsley, P Ray, PA Penczek, PB Rosenthal, R Valli, RM Voorhees, Robert R Kay, S Chen, S Klinge, S Lebaron, SH Scheres, SH Scheres, SH Scheres, SO Sulima, T Becker, T Yokoyama, TF Menne, TM Schmeing, U Basu, U Basu, V Hauryliuk, VB Chen, W Humphrey, XC Bai, Y Zhang, YG Gao +76 morecore +4 more sourcesDNA Methylation Episignature as a Novel Diagnostic Tool for Diamond‐Blackfan Anemia Syndrome
American Journal of Hematology, Volume 101, Issue 2, Page 228-241, February 2026.Diamond‐Blackfan Anemia Syndrome (DBAS) is a congenital bone marrow failure disorder characterized by defective erythropoiesis and a spectrum of congenital anomalies, including craniofacial malformations, limb abnormalities, and cardiac and renal defects.Paola Quarello, Karim Karimi, Slavica Trajkova, Emanuela Garelli, Mehdi Samadieh, Emanuela Iovino, Tommaso Pippucci, Giovanni Papagni, Sandra Dalfonso, Lucia Corrado, Serena Rizzo, Adriana Carando, Jennifer Kerkhof, Jessica Rzasa, Haley McConkey, Michael Levy, Marco Zecca, Francesca Fioredda, Angelica Barone, Simone Cesaro, Maria Gabelli, Francesca Torchio, Giulia Zucchetti, Maria Elena Cantarini, Paola Corti, Ugo Ramenghi, Franco Locatelli, Franca Fagioli, Bekim Sadikovic, Alfredo Brusco +29 morewiley +1 more sourceDNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation [PDF]
, 2016 This work was funded by The Medical Research Council UK (MR/K000292/1), Children with Cancer UK (2013/144), Barts and The London Charity (845/1796), and Leukaemia Lymphoma Research/Bloodwise (14032)Albanèse, Alicia Ellison, Amanda J. Walne, Bradatsch, Cawthon, David A. van Heel, David P. Kelsell, De Keersmaecker, Demoinet, Dokal, Dror, Elspeth Payne, Greber, Guex, Hemanth Tummala, Iapalucci-Espinoza, Inderjeet Dokal, Jude Fitzgibbon, Kottemann, Laura Collopy, Lo, Menne, Meyer, Meyer, Mike Williams, Narla, Nicholas Bockett, Pilipenko, Qiu, Rob Wynn, Ruggero, Sahi, Shammas, Shimamura, Shirleny Cardoso, Squatrito, Squatrito, Sulima, Tafforeau, Thierry Leblanc, Thomson, Tom Vulliamy, Tsai, Tummala, Vincent Plagnol, Vlachos, Weis, Wiederschain, Wong, Xia +49 morecore +2 more sourcesSomatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.
Blood, 2021 Shwachman-Diamond syndrome (SDS; OMIM: #260400) is caused by variants in SBDS (Shwachman-Bodian-Diamond syndrome gene), which encodes a protein that plays an important role in ribosome assembly.Sangmoon Lee, Chang Hoon Shin, Jawon Lee, Seong Dong Jeong, C. Hong, Jun-Dae Kim, Ah-Ra Kim, Boryeong Pak, S. Son, O. Kokhan, Taekyeong Yoo, J. Ko, Y. Sohn, O. Kim, J. Ko, T-J Cho, N. Wright, J. Seong, Suk-Won Jin, H. Kang, Hyeon-ho Kim, Murim Choi +21 moresemanticscholar +1 more sourceInternational Multidisciplinary Consensus Report on Definitions, Diagnostic Criteria, and Management of Fatty Pancreas: A Joint Statement Endorsed by EPC, APA, EASD, EASL, ESGAR, ESGE, ESP, ESPCG, ESPEN, ESPGHAN, IAP, JPS, KPBA, LAPSG, and UEG
United European Gastroenterology Journal, Volume 14, Issue 1, February 2026.ABSTRACT
This international, multidisciplinary consensus report represents the first effort to systematically define and characterize fatty pancreas. A key outcome of this endeavor was the recommendation to adopt “fatty pancreas” as the standardized and inclusive term to describe all forms of fat accumulation in the pancreas.Miroslav Vujasinovic, Ihsan Ekin Demir, Giovanni Marchegiani, Peter Hegyi, Livia Archibugi, Roberto Valente, Gabriele Capurso, Heiko Witt, Stefanos Bonovas, Daniele Piovani, Jonas Rosendahl, Patrick Maisonneuve, Caroline S. Verbeke, Muşturay Karçaaltıncaba, J. Enrique Dominguez‐Muñoz, Isabelle Scheers, Laszlo Czako, Robert Wagner, Vinciane Rebours, Daniel Öhlund, Ilkay S. Idilman, Kasper Overbeek, Natalya Gubergrits, Trond Engjom, Albrecht Neesse, Minoti Apte, Mihailo Bezmarević, Rickmer Braren, Stefania Bunduc, Güralp Onur Ceyhan, Manil Dinesh Chouhan, Anne Couvelard, Jérôme Cros, Daniel de la Iglesia, Enrique de‐Madaria, Joost P. H. Drenth, Asbjørn Mohr Drewes, Arantza Fariña Sarasqueta, Pierluigi Fracasso, Sven Francque, Jens Brøndum Frøkjær, Julio Iglesias‐Garcia, Pramod Garg, Felicia Gerst, Antanas Gulbinas, Ibrahim Halil Gürcinar, Martin Heni, Jong Jin Hyun, Eduard Jonas, Mariia Kiriukova, Masayuki Kitano, Aleksander Krag, Johanna Laukkarinen, Mónika Lipp, Martin Lovecek, Marc Martignoni, Etna Masip, Ryotaro Matsumoto, Anders Molven, Tetiana Mozhyna, Lenka Nosakova, Verena Obmann, Johann Ockenga, Sanjay Pandanaboyana, Nikola Panić, Georgios Papachristou, Analia Verónica Pasqua, Katarzyna M. Pawlak, Mario Pelaez‐Luna, Ivonne Regel, Sara Regnér, Stuart Robinson, Andrada Seicean, Vijay Singh, Mark M. Smits, Min Je Sung, Matteo Tacelli, Roy Taylor, Brigitta Teutsch, Mihaela Udrescu, Michael Wilschanski, Aslihan Yavas, Giulia A. Zamboni, J. Matthias Löhr +83 morewiley +1 more source
