Results 71 to 80 of about 7,368 (202)

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 more
wiley   +1 more source

Further 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 more
core  

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 more
core   +1 more source

The diagnostic performance of the basic versus the detailed telomere Flow FISH test in young patients with aplastic anaemia

British Journal of Haematology, EarlyView.
Summary Identifying telomere biology disorders (TBDs) in patients with aplastic anaemia (AA) is essential for guiding appropriate care. Telomere length (TL) measurement by flow cytometry with fluorescence in situ hybridization supports diagnosis, but the real‐world performance of the basic test (lymphocytes and granulocytes) versus the detailed test ...
Nicholas F. DeCleene, Duc T. Nguyen, Susan E. Kirk, Hannah L. Helber, Ghadir S. Sasa, Alison A. Bertuch   +5 more
wiley   +1 more source

Liver 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 more
doaj   +1 more source

DNAJC21 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 more
core   +2 more sources

Somatic 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 more
semanticscholar   +1 more source

DNA 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 more
wiley   +1 more source

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita

Clinical Genetics, Volume 109, Issue 2, Page 346-351, February 2026.
Using WGS and RNA analysis, we identified a branch point‐disrupting variant in the PARN gene and elucidated its pathogenic molecular mechanism in a child with atypical dyskeratosis congenita presentation. ABSTRACT Dyskeratosis congenita (DC) is a rare genetic disorder caused by impaired telomere maintenance, leading to diverse clinical manifestations ...
Daria Akimova, Natalia Semenova, Tatiana Cherevatova, Mikhail Skoblov   +3 more
wiley   +1 more source

Strategies against nonsense: oxadiazoles as translational readthrough-inducing drugs (TRIDs) [PDF]

, 2019
This review focuses on the use of oxadiazoles as translational readthrough-inducing drugs (TRIDs) to rescue the functional full-length protein expression in mendelian genetic diseases caused by nonsense mutations.
Campofelice A., Di Leonardo A., Lentini L., Melfi R., Pace A., Pibiri I., Tutone M.   +6 more
core   +1 more source