Ribosomopathies: old concepts, new controversies

KI Farley-Barnes, LM Ogawa, SJ Baserga - Trends in Genetics, 2019 - cell.com
Ribosomopathies are a diverse subset of diseases caused by reduced expression of, or
mutations in, factors necessary for making ribosomes, the protein translation machinery in …

Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances

CR Reilly, A Shimamura - Blood, 2023 - ashpublications.org
Shwachman-Diamond syndrome (SDS) is an inherited multisystem ribosomopathy
characterized by exocrine pancreatic deficiency, bone marrow failure, and predisposition to …

[HTML][HTML] Shwachman-Diamond syndromes: Clinical, genetic, and biochemical insights from the rare variants

N Kawashima, U Oyarbide, M Cipolli, V Bezzerri… - …, 2023 - ncbi.nlm.nih.gov
Shwachman-Diamond syndrome is a rare inherited bone marrow failure syndrome
characterized by neutropenia, exocrine pancreatic insufficiency, and skeletal abnormalities …

Shwachman-Diamond syndrome: molecular mechanisms and current perspectives

V Bezzerri, M Cipolli - Molecular Diagnosis & Therapy, 2019 - Springer
Shwachman-Diamond syndrome (SDS) is a rare inherited disease mainly caused by
mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene. However, it has …

Inherited susceptibility to hematopoietic malignancies in the era of precision oncology

GW Roloff, MW Drazer, LA Godley - JCO Precision Oncology, 2021 - ascopubs.org
As germline predisposition to hematopoietic malignancies has gained increased recognition
and attention in the field of oncology, it is important for clinicians to use a systematic …

[HTML][HTML] Mechanism of completion of peptidyltransferase centre assembly in eukaryotes

V Kargas, P Castro-Hartmann, N Escudero-Urquijo… - Elife, 2019 - elifesciences.org
During their final maturation in the cytoplasm, pre-60S ribosomal particles are converted to
translation-competent large ribosomal subunits. Here, we present the mechanism of …

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

S Tan, L Kermasson, A Hoslin, P Jaako… - Blood, The Journal …, 2019 - ashpublications.org
Shwachman-Diamond syndrome (SDS) is a recessive disorder typified by bone marrow
failure and predisposition to hematological malignancies. SDS is predominantly caused by …

Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features

AS Thompson, N Giri, DM Gianferante, K Jones… - Pediatric …, 2022 - nature.com
Abstract Background and objectives Shwachman Diamond syndrome (SDS) is an inherited
bone marrow failure syndrome (IBMFS) associated with pancreatic insufficiency …

Hereditary predisposition to hematopoietic neoplasms: when bloodline matters for blood cancers

AA Mangaonkar, MM Patnaik - Mayo Clinic Proceedings, 2020 - Elsevier
With the advent of precision genomics, hereditary predisposition to hematopoietic
neoplasms—collectively known as hereditary predisposition syndromes (HPS)—are being …

[HTML][HTML] Exploring the role of endoplasmic reticulum stress in hepatocellular carcinoma through mining of the human protein atlas

N Pavlović, F Heindryckx - Biology, 2021 - mdpi.com
Simple Summary Hepatocellular carcinoma is a highly deadly primary liver cancer. It is
usually diagnosed at a late stage, when therapeutic options are scarce, and the lack of …