Results 31 to 40 of about 2,254,317 (172)

P797: METABOLIC PROFILING IN ERCC6L2 AND SHWACHMAN DIAMOND SYNDROME [PDF]

HemaSphere, 2022
I. Kaaja, S. P. Douglas, T. H. Räisänen, K. Haimilahti, A. I. Nieminen, E. Pirinen, U. Wartiovaara-Kautto, O. Kilpivaara   +7 more
doaj   +2 more sources

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome [PDF]

, 2016
Isomorphic mutation of the SBDS gene causes Shwachman-Diamond syndrome (SDS). SDS is a rare genetic bone marrow failure and cancer predisposition syndrome.
Bottega, Roberta, Cappelli, Enrico, Cesaro, Simone, Cipolli, Marco, Columbaro, Marta, Corsolini, Fabio, Cuccarolo, Paola, Degan, Paolo, Dufour, Carlo, Faleschini, Michela, Ravera, Silvia, Savoia, Anna, Usai, Cesare   +12 more
core   +12 more sources

Recent Progress in Hepatic Involvement in Shwachman-Diamond Syndrome

罕见病研究, 2022
Shwachman-Diamond syndrome is a multisystem autosomal recessive disorder characterized by pancreatic and bone marrow abnormalities with frequent liver involvement.Patients with SDS display aminotransaminase elevation and hepatomegaly in their early ...
LI Mengping, WANG Jianshe
doaj   +1 more source

The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis

Biomolecules, 2023
Inherited bone marrow failure syndromes (IBMFSs) include Fanconi anemia, Diamond–Blackfan anemia, Shwachman–Diamond syndrome, dyskeratosis congenita, severe congenital neutropenia, and other rare entities such as GATA2 deficiency and SAMD9/9L mutations ...
Nozomu Kawashima, Valentino Bezzerri, Seth J. Corey   +2 more
doaj   +1 more source

Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants

Haematologica, 2023
Shwachman-Diamond syndrome is a rare inherited bone marrow failure syndrome characterized by neutropenia, exocrine pancreatic insufficiency, and skeletal abnormalities. In 10-30% of cases, transformation to a myeloid neoplasm occurs.
Nozomu Kawashima, Usua Oyarbide, Marco Cipolli, Valentino Bezzerri, Seth J. Corey   +4 more
doaj   +1 more source

Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics

Haematologica, 2009
Shwachman-Diamond syndrome is a hereditary disorder characterized by pancreatic insufficiency and bone marrow failure. Most Shwachman-Diamond syndrome patients have mutations in the SBDS gene located at chromosome 7 and suffer from recurrent infections ...
Claudia Orelio, Taco W. Kuijpers
doaj   +1 more source

Hematologically important mutations: Shwachman–Diamond syndrome [PDF]

, 2007
Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities.
Costa, Elísio, Santos, Rosário
core   +1 more source

Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome

Haematologica, 2010
Background Diamond-Blackfan anemia and Shwachman-Diamond syndrome are inherited bone marrow failure syndromes linked to defects in ribosome synthesis.
Joseph B. Moore, Jason E. Farrar, Robert J. Arceci, Johnson M. Liu, Steven R. Ellis   +4 more
doaj   +1 more source

Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child

Revista Brasileira de Hematologia e Hemoterapia, 2013
Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic response ...
Cresio Alves, Julia Constanca Fernandes, Silvana Sampaio, Raquel de Melo Alves Paiva, Rodrigo Tocantins Calado   +4 more
doaj   +1 more source

Inherited Bone Marrow Failure Syndromes in Children

The Journal of Pediatric Academy, 2023
Inherited bone marrow failure syndromes are disorders of hematopoiesis that are mostly encountered in childhood. Taking the basis from genetics, they are characterized by pancytopenia, increased risk of developing myelodysplastic syndrome and malignancy.
Mehmet Emin Ertunç, Ahmet Genar Çelik, Akif Tahiroğlu, Ekrem Ünal   +3 more
doaj   +1 more source