Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives

Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells

(2018) Valentino Bezzerri et al.   AMERICAN JOURNAL OF HEMATOLOGY

Refining the phenotype associated with biallelic DNAJC21 mutations

(2018) G. D'Amours et al.   CLINICAL GENETICS

Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations

(2018) Jacopo Morini et al.   BRITISH JOURNAL OF HAEMATOLOGY

Ataluren in cystic fibrosis: development, clinical studies and where are we now?

(2017) Noreen Zainal Abidin et al.   EXPERT OPINION ON PHARMACOTHERAPY

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

(2017) Raphael Carapito et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations inEFL1, anSBDSpartner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome

(2017) Polina Stepensky et al.   JOURNAL OF MEDICAL GENETICS

The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data

(2017) Polyxeni Delaporta et al.   PEDIATRIC BLOOD & CANCER

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

(2016) Hemanth Tummala et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exploring the readthrough of nonsense mutations by non-acidic Ataluren analogues selected by ligand-based virtual screening

(2016) Ivana Pibiri et al.   EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY

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

(2016) Valentino Bezzerri et al.   Scientific Reports

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

(2016) Silvia Ravera et al.   Scientific Reports

Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome

(2015) Angela Mercuri et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Enhancement of premature stop codon readthrough in the CFTR gene by Ataluren (PTC124) derivatives

(2015) Ivana Pibiri et al.   EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY

Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes

(2015) N. A. Zambetti et al.   HAEMATOLOGICA

Mechanism of eIF6 release from the nascent 60S ribosomal subunit

(2015) Félix Weis et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Radiosensitivity in lymphoblastoid cell lines derived from Shwachman–Diamond syndrome patients

(2015) J. Morini et al.   RADIATION PROTECTION DOSIMETRY

Mechanism of eIF6 release from the nascent 60S ribosomal subunit

(2015) Félix Weis et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency

(2015) Marina E. Tourlakis et al.   PLoS Genetics

Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes

(2015) N. A. Zambetti et al.   HAEMATOLOGICA

Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman–Diamond syndrome: Evidence from a multimodal approach

(2015) Sandra Perobelli et al.   NeuroImage-Clinical

Delamanid: First Global Approval

(2014) Nicola J. Ryan et al.   DRUGS

Pleiotropic roles of mTOR complexes in haemato-lymphopoiesis and leukemogenesis

(2014) T. Hoshii et al.   JOURNAL OF BIOCHEMISTRY

Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial

(2014) Eitan Kerem et al.   Lancet Respiratory Medicine

Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome

(2013) Heidi Schaballie et al.   EUROPEAN JOURNAL OF PEDIATRICS

Comparison of read-through effects of aminoglycosides and PTC124 on rescuing nonsense mutations of HERG gene associated with long QT syndrome

(2013) HAIYUN YU et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

JAKs and STATs in Immunity, Immunodeficiency, and Cancer

(2013) John J. O'Shea et al.   NEW ENGLAND JOURNAL OF MEDICINE

Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

(2013) Richard S. Finkel et al.   PLoS One

Genomic Characterization of the Inherited Bone Marrow Failure Syndromes

(2013) Payal P. Khincha et al.   SEMINARS IN HEMATOLOGY

Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms

(2013) Roberto Valli et al.   Molecular Cytogenetics

Further characterization of Shwachman-Diamond syndrome: Psychological functioning and quality of life in adult and young patients

(2012) Sandra Perobelli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

(2012) Steven J Keogh et al.   BMC Pediatrics

Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis

(2012) Barbara Pressato et al.   BRITISH JOURNAL OF HAEMATOLOGY

Ribosomal biogenesis genes play an essential and p53-independent role in zebrafish pancreas development

(2012) E. Provost et al.   DEVELOPMENT

Deficiency of Sbds in the Mouse Pancreas Leads to Features of Shwachman–Diamond Syndrome, With Loss of Zymogen Granules

(2012) Marina E. Tourlakis et al.   GASTROENTEROLOGY

A clinical algorithm predicts hematological complications in Shwachman–Diamond syndrome?

(2012) Johnson M Liu   Expert Review of Hematology

Statistical Analysis of Readthrough Levels for Nonsense Mutations in Mammalian Cells Reveals a Major Determinant of Response to Gentamicin

(2012) Célia Floquet et al.   PLoS Genetics

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

(2011) Yigal Dror et al.   Annals of the New York Academy of Sciences

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

(2011) A. J. Finch et al.   GENES & DEVELOPMENT

Non–Diamond Blackfan Anemia Disorders of Ribosome Function: Shwachman Diamond Syndrome and 5q- Syndrome

(2011) Nicholas Burwick et al.   SEMINARS IN HEMATOLOGY

Perspectives on inhibiting mTOR as a future treatment strategy for hematological malignancies

(2010) N Chapuis et al.   LEUKEMIA

Defining the Pathway of Cytoplasmic Maturation of the 60S Ribosomal Subunit

(2010) Kai-Yin Lo et al.   MOLECULAR CELL

The Behavioral Phenotype of School-Age Children with Shwachman Diamond Syndrome Indicates Neurocognitive Dysfunction with Loss of Shwachman-Bodian-Diamond Syndrome Gene Function

(2009) Elizabeth N. Kerr et al.   JOURNAL OF PEDIATRICS

A Zebrafish Model for the Shwachman-Diamond Syndrome (SDS)

(2009) Narayanan Venkatasubramani et al.   PEDIATRIC RESEARCH

SBDS Expression and Localization at the Mitotic Spindle in Human Myeloid Progenitors

(2009) Claudia Orelio et al.   PLoS One

SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane

(2008) Ken-ichiro Watanabe et al.   APOPTOSIS

Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family

(2008) N. Danilova et al.   BLOOD

Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia

(2008) Tamayo Uechi et al.   HUMAN MOLECULAR GENETICS

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

(2008) Karyn M. Austin et al.   JOURNAL OF CLINICAL INVESTIGATION

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

(2008) Kelly A McGowan et al.   NATURE GENETICS