Cargando…

New insights into the Shwachman-Diamond Syndrome-related haematological disorder: hyper-activation of mTOR and STAT3 in leukocytes

Shwachman-Diamond syndrome (SDS) is an inherited disease caused by mutations of a gene encoding for SBDS protein. So far little is known about SBDS exact function. SDS patients present several hematological disorders, including neutropenia and myelodysplastic syndrome (MDS), with increased risk of l...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bezzerri, Valentino, Vella, Antonio, Calcaterra, Elisa, Finotti, Alessia, Gasparello, Jessica, Gambari, Roberto, Assael, Baroukh Maurice, Cipolli, Marco, Sorio, Claudio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034238/ https://www.ncbi.nlm.nih.gov/pubmed/27658964 http://dx.doi.org/10.1038/srep33165

Ejemplares similares

mTOR and STAT3 Pathway Hyper-Activation is Associated with Elevated Interleukin-6 Levels in Patients with Shwachman-Diamond Syndrome: Further Evidence of Lymphoid Lineage Impairment
por: Vella, Antonio, et al.
Publicado: (2020)

Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants
por: Kawashima, Nozomu, et al.
Publicado: (2023)

Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman–Diamond syndrome: Evidence from a multimodal approach
por: Perobelli, Sandra, et al.
Publicado: (2015)

Counteracting the Common Shwachman–Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing
por: Peretto, Laura, et al.
Publicado: (2023)

Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome
por: Bezzerri, Valentino, et al.
Publicado: (2022)

Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman–Diamond Syndrome Subjects
por: Frattini, Annalisa, et al.
Publicado: (2021)

A case of Shwachman–Diamond syndrome
por: Kim, Ji Hoon, et al.
Publicado: (2013)

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome
por: Ravera, Silvia, et al.
Publicado: (2016)

Somatic development in children with Shwachman-Diamond syndrome
por: Bogusz-Wójcik, Agnieszka, et al.
Publicado: (2020)

Shwachman-diamond syndrome: A case report
por: Tan, Huihan, et al.
Publicado: (2021)

Hematologic complications with age in Shwachman-Diamond syndrome
por: Furutani, Elissa, et al.
Publicado: (2022)

Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0–8 years old
por: Cipolli, Marco, et al.
Publicado: (2019)

Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome
por: Warren, Alan J.
Publicado: (2018)

Proteolytic autodigestion: Common tissue pathology in Shwachman-Diamond syndrome?
por: Kelley, James M, et al.
Publicado: (2013)

Cirrhosis complicating Shwachman-Diamond syndrome: A case report
por: Camacho, Sandra M, et al.
Publicado: (2019)

The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations
por: Khan, Abdul Waheed, et al.
Publicado: (2021)

Shwachman-Diamond Syndrome: frequent misdiagnosis as Jeune Syndrome and other peculiarities
por: Meyts, I, et al.
Publicado: (2011)

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome
por: Carvalho, Claudia M B, et al.
Publicado: (2014)

Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child
por: Alves, Cresio, et al.
Publicado: (2013)

Two Cases of Shwachman-Diamond Syndrome in Adolescents Confirmed by Genetic Analysis
por: Cho, Won Kyoung, et al.
Publicado: (2015)

A Case of Shwachman-Diamond Syndrome Distinguished from Celiac Disease
por: Hagiwara, Shin-ichiro, et al.
Publicado: (2012)

Liver and Cardiac Involvement in Shwachman-Diamond Syndrome: A Literature Review
por: Lawal, Odunayo S, et al.
Publicado: (2020)

Shwachman Diamond Syndrome: Narrow Genotypic Spectrum and Variable Clinical Features
por: Thompson, Ashley S., et al.
Publicado: (2022)

Systemic Lupus Erythematosus in Shwachman-Diamond Syndrome: a Novel Phenotype
por: Zhang, Tianyu, et al.
Publicado: (2023)

Growth hormone improves short stature in children with Shwachman-Diamond syndrome
por: Bogusz-Wójcik, Agnieszka, et al.
Publicado: (2021)

Production and Characterization of K562 Cellular Clones Hyper-Expressing the Gene Encoding α-Globin: Preliminary Analysis of Biomarkers Associated with Autophagy
por: Zurlo, Matteo, et al.
Publicado: (2023)

Tackling the COVID-19 “cytokine storm” with microRNA mimics directly targeting the 3’UTR of pro-inflammatory mRNAs
por: Gasparello, Jessica, et al.
Publicado: (2021)

Mesenchymal stem cells from Shwachman–Diamond syndrome patients display normal functions and do not contribute to hematological defects
por: André, V, et al.
Publicado: (2012)

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome
por: Taha, Ibrahim, et al.
Publicado: (2022)

Association of isochromosome (7)(q10) in Shwachman–Diamond syndrome with the severity of cytopenia
por: Shimosato, Yuko, et al.
Publicado: (2017)

Atypical Findings of Shwachman-Diamond Syndrome in Early Infancy: A Diagnostic Challenge
por: Marsico, Concetta, et al.
Publicado: (2022)

Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review
por: Han, Xue, et al.
Publicado: (2023)

P780: G-CSF THERAPY IN EUROPEAN PATIENTS WITH SHWACHMAN-DIAMOND SYNDROME
por: Mellor-Heineke, Sabine, et al.
Publicado: (2023)

Differential effects on the miRNome of the treatment of human airway epithelial Calu-3 cells with peptide-nucleic acids (PNAs) targeting microRNAs miR-101-3p and miR-145-5p: Next generation sequencing datasets
por: Gasparello, Jessica, et al.
Publicado: (2021)

A Case of Shwachman-Diamond Syndrome Confirmed with Genetic Analysis in a Korean Child
por: Lee, Jeong Hee, et al.
Publicado: (2008)

Altered Intracellular Localization and Mobility of SBDS Protein upon Mutation in Shwachman-Diamond Syndrome
por: Orelio, Claudia, et al.
Publicado: (2011)

Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein
por: Ng, C Leong, et al.
Publicado: (2009)

Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia
por: Ong, Shin Yeu, et al.
Publicado: (2018)

IDH1 as a Cooperating Mutation in AML Arising in the Context of Shwachman-Diamond Syndrome
por: Mourad, Stéphanie, et al.
Publicado: (2019)

Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry
por: Donadieu, J, et al.
Publicado: (2005)

Cannot write session to /tmp/vufind_sessions/sess_l24les29i90lman91lhepe2ttr