Results 31 to 40 of about 7,368 (202)

A novel MAP7D1 mutation causes mitotic defects and RPS14 accumulation in Shwachman-Diamond syndrome patient cells.

Dis Model Mech
The importance of microtubule stability and microtubule-associated proteins in the etiology of Shwachman−Diamond syndrome (SDS) has been highlighted in recent studies. In one patient with SDS, a novel MAP7D1:c.601C>T, p.R201W variant has been identified.
Kucukvardar S, Karabay A.
europepmc   +2 more sources

Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature [PDF]

Children (Basel)
Shwachman Diamond Syndrome (SDS) is a multi-system disease characterized by exocrine pancreatic insufficiency with malabsorption, infantile neutropenia and aplastic anemia. Life-threatening complications include progression to acute myeloid leukemia (AML)
Veltra D, Marinakis N, Kotsios I, Delaporta P, Kekou K, Kosma K, Traeger-Synodinos J, Sofocleous C.   +7 more
europepmc   +2 more sources

Somatic development in children with Shwachman-Diamond syndrome [PDF]

Italian Journal of Pediatrics, 2020
Background Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic disease characterized by exocrine pancreatic insufficiency, immune deficiency, bone marrow failure and skeletal abnormalities.
Agnieszka Bogusz-Wójcik, Honorata Kołodziejczyk, Maja Klaudel-Dreszler, Grzegorz Oracz, Joanna Pawłowska, Mieczysław Szalecki   +5 more
doaj   +2 more sources

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome. [PDF]

Blood, 2019
Shwachman-Diamond syndrome (SDS) is a recessive disorder typified by bone marrow failure and predisposition to hematological malignancies. SDS is predominantly caused by deficiency of the allosteric regulator Shwachman-Bodian-Diamond syndrome that ...
Acevedo-Arozena, Abraham, Beaupain, Blandine, Bellanné-Chantelot, Christine, Bôle-Feysot, Christine, de Villartay, Jean-Pierre, Donadieu, Jean, Ducou le Pointe, Hubert, Faille, Alexandre, Fenneteau, Odile, Fumagalli, Stefano, Hoslin, Angela, Jaako, Pekka, Kannengiesser, Caroline, Kermasson, Laëtitia, Lengline, Etienne, Nitschké, Patrick, Poirée, Maryline, Ranta, Dana, Revy, Patrick, Tan, Shengjiang, Warren, Alan J   +20 more
core   +2 more sources

Shwachman-diamond syndrome: A case report. [PDF]

Medicine (Baltimore), 2021
Abstract Rationale: The aim of this study was to analyze the genetic abnormalities and clinical manifestations of Shwachman-Diamond syndrome (SDS). Patient concerns: A Chinese infant with elevated transaminase and a novel mutation at of sbdsc.258 +2T>C and c.184a>Tc ...
Tan H, Su D, Zhuo Z.
europepmc   +3 more sources

Shwachman-Diamond syndrome [PDF]

Seminars in Hematology, 2002
Shwachman-Diamond syndrome (SDS), described just under 40 years ago, is a rare, autosomal-recessive disorder usually manifest in infancy and characterized by exocrine pancreatic insufficiency, short stature, and bone marrow dysfunction. Additional clinical features include metaphyseal dysostosis, epiphyseal dysplasia, immune dysfunction, liver disease,
Yigal, Dror, Melvin H, Freedman
  +6 more sources

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

Shwachman–Diamond syndrome

Degerli S: Shwachman–Diamond syndrome, 2021
This article describes a clinical case of a rare Schwachman–Diamond syndrome. It covers the features of the clinical picture of the disease and the laboratory examinations. A multidisciplinary approach for the purpose of early diagnosis, timely initiation of complex treatment, including nutritional therapy, prescription of enzyme preparations and ...
D. R. Sabirova, A. R. Shakirova, I. I. Ramazanova, N. V. Shakurova   +3 more
openaire   +3 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