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 …
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 …
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
Shwachman-Diamond syndrome is a rare inherited bone marrow failure syndrome
characterized by neutropenia, exocrine pancreatic insufficiency, and skeletal abnormalities …
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 …
mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene. However, it has …
Inherited susceptibility to hematopoietic malignancies in the era of precision oncology
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 …
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 …
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 …
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 …
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 …
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 …
usually diagnosed at a late stage, when therapeutic options are scarce, and the lack of …