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Shwachman- Diamond syndrome

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https://www.readbyqxmd.com/read/27805607/fluorescence-anisotropy-as-a-tool-to-study-protein-protein-interactions
#1
Abril Gijsbers, Takuya Nishigaki, Nuria Sánchez-Puig
Protein-protein interactions play an essential role in the function of a living organism. Once an interaction has been identified and validated it is necessary to characterize it at the structural and mechanistic level. Several biochemical and biophysical methods exist for such purpose. Among them, fluorescence anisotropy is a powerful technique particularly used when the fluorescence intensity of a fluorophore-labeled protein remains constant upon protein-protein interaction. In this technique, a fluorophore-labeled protein is excited with vertically polarized light of an appropriate wavelength that selectively excites a subset of the fluorophores according to their relative orientation with the incoming beam...
October 21, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/27754968/a-unique-case-of-shwachman-diamond-syndrome-presenting-with-congenital-hypopituitarism
#2
Nurin Jivani, Carmen Torrado-Jule, Sarah Vaiselbuh, Eleny Romanos-Sirakis
Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies...
October 18, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27679730/is-a-fatty-pancreas-a-banal-lesion
#3
REVIEW
Andrzej Smereczyński, Katarzyna Kołaczyk
So far, a fatty pancreas has been related to obesity and the ageing processes in the body. The current list of pathogenetic factors of the condition is clearly extended with genetically conditioned diseases (cystic fibrosis, Shwachman-Diamond syndrome and Johanson-Blizzard syndrome), pancreatitis, especially hereditary and obstructive, metabolic and hormonal disorders (hypertriglyceridemia, hypercholesterolemia, hyperinsulinemia and hypercortisolemia), alcohol overuse, taking some medicines (especially adrenal cortex hormones), disease of the liver and visceral adiposis...
September 2016: Journal of Ultrasonography
https://www.readbyqxmd.com/read/27666011/mesenchymal-inflammation-drives-genotoxic-stress-in-hematopoietic-stem-cells-and-predicts-disease-evolution-in-human-pre-leukemia
#4
Noemi A Zambetti, Zhen Ping, Si Chen, Keane J G Kenswil, Maria A Mylona, Mathijs A Sanders, Remco M Hoogenboezem, Eric M J Bindels, Maria N Adisty, Paulina M H Van Strien, Cindy S van der Leije, Theresia M Westers, Eline M P Cremers, Chiara Milanese, Pier G Mastroberardino, Johannes P T M van Leeuwen, Bram C J van der Eerden, Ivo P Touw, Taco W Kuijpers, Roland Kanaar, Arjan A van de Loosdrecht, Thomas Vogl, Marc H G P Raaijmakers
Mesenchymal niche cells may drive tissue failure and malignant transformation in the hematopoietic system, but the underlying molecular mechanisms and relevance to human disease remain poorly defined. Here, we show that perturbation of mesenchymal cells in a mouse model of the pre-leukemic disorder Shwachman-Diamond syndrome (SDS) induces mitochondrial dysfunction, oxidative stress, and activation of DNA damage responses in hematopoietic stem and progenitor cells. Massive parallel RNA sequencing of highly purified mesenchymal cells in the SDS mouse model and a range of human pre-leukemic syndromes identified p53-S100A8/9-TLR inflammatory signaling as a common driving mechanism of genotoxic stress...
September 10, 2016: Cell Stem Cell
https://www.readbyqxmd.com/read/27658964/new-insights-into-the-shwachman-diamond-syndrome-related-haematological-disorder-hyper-activation-of-mtor-and-stat3-in-leukocytes
#5
Valentino Bezzerri, Antonio Vella, Elisa Calcaterra, Alessia Finotti, Jessica Gasparello, Roberto Gambari, Baroukh Maurice Assael, Marco Cipolli, Claudio Sorio
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 leukemic evolution. So far, the molecular mechanisms that underlie neutropenia, MDS and AML in SDS patients have been poorly investigated. STAT3 is a key regulator of several cellular processes including survival, differentiation and malignant transformation...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27617157/thoracic-hypoplasia-at-birth-as-presenting-feature-of-shwachman-diamond-syndrome-in-twins
#6
Letizia Capasso, Angela Carla Borrelli, Julia Cerullo, Maria Rosaria Pirozzi, Francesco Raimondi
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder of marrow failure syndrome and exocrine pancreatic dysfunction with an estimated incidence of 1/76,000. When present, characteristic skeletal abnormalities are strongly suggestive of SDS but most often they are seen during childhood and adolescence. We present a case of preterm twins with prenatal diagnosis of thoracic hypoplasia and a clinical evolution that lead to an early diagnosis of SDS. This report highlights the importance of a high index of suspicion for SDS in case of neonatal thoracic hypoplasia...
September 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27553422/parental-origin-of-the-deletion-del-20q-in-shwachman-diamond-patients-and-loss-of-the-paternally-derived-allele-of-the-imprinted-l3mbtl1-gene
#7
Lucia Nacci, Roberto Valli, Rita Maria Pinto, Marco Zecca, Marco Cipolli, Jacopo Morini, Simone Cesaro, Emanuela Boveri, Vittorio Rosti, Paola Corti, Maura Ambroni, Francesco Pasquali, Cesare Danesino, Emanuela Maserati, Antonella Minelli
Shwachman-Diamond syndrome (SDS) (OMIM 260400) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, skeletal, and hematological abnormalities and bone marrow (BM) dysfunction. Mutations in the SBDS gene cause SDS. Clonal chromosome anomalies are often present in BM, i(7)(q10) and del(20q) being the most frequent ones. We collected 6 SDS cases with del(20q): a cluster of imprinted genes, including L3MBTL1 and SGK2 is present in the deleted region. Only the paternal allele is expressed for these genes...
January 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/27498735/recent-advances-in-inherited-bone-marrow-failure-syndrome-research
#8
Etsuro Ito, Tsutomu Toki, Kiminori Terui
Inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders characterized by bone marrow failure, congenital anomalies, and an increased risk of malignancies. Diagnosis is often difficult due to the wide variety of clinical expressions. The representative diseases are Diamond Blackfan anemia (DBA), Fanconi anemia (FA), congenital sideroblastic anemia (CSA), congenital dyserhthropoietic anemia, Shwachman Diamond syndrome, and dyskeratosis congenita. Next-generation sequencing technologies have facilitated the discovery of germline mutations that cause IBMFS...
July 2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/27428025/otologic-manifestations-of-fanconi-anemia-and-other-inherited-bone-marrow-failure-syndromes
#9
Adedoyin Kalejaiye, Neelam Giri, Carmen C Brewer, Christopher K Zalewski, Kelly A King, Charleen D Adams, Philip S Rosenberg, H Jeffrey Kim, Blanche P Alter
BACKGROUND: The inherited bone marrow failure syndromes (IBMFSs) are diverse disorders with syndrome-specific features; their otologic and audiologic manifestations have not been well described. Our objective was to characterize these in patients with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS), and to determine the association between physical findings and hearing loss. METHODS: Patients with an IBMFS underwent comprehensive clinical and laboratory evaluations and testing for syndrome-specific gene mutations...
July 18, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27248996/hereditary-predispositions-to-myelodysplastic-syndrome
#10
REVIEW
Sarah A Bannon, Courtney D DiNardo
Myelodysplastic syndromes (MDS) are heterogeneous clonal hematopoietic disorders characterized by ineffective hematopoiesis, bone marrow dysplasia, and peripheral cytopenias. Familial forms of MDS have traditionally been considered rare, especially in adults; however, the increasing availability of somatic and germline genetic analyses has identified multiple susceptibility loci. Bone marrow failure syndromes have been well-described in the pediatric setting, e.g., Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SBS), hallmarked by clinically-recognizable phenotypes (e...
May 30, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27146429/evaluation-of-energy-metabolism-and-calcium-homeostasis-in-cells-affected-by-shwachman-diamond-syndrome
#11
Silvia Ravera, Carlo Dufour, Simone Cesaro, Roberta Bottega, Michela Faleschini, Paola Cuccarolo, Fabio Corsolini, Cesare Usai, Marta Columbaro, Marco Cipolli, Anna Savoia, Paolo Degan, Enrico Cappelli
Isomorphic mutation of the SBDS gene causes Shwachman-Diamond syndrome (SDS). SDS is a rare genetic bone marrow failure and cancer predisposition syndrome. SDS cells have ribosome biogenesis and their protein synthesis altered, which are two high-energy consuming cellular processes. The reported changes in reactive oxygen species production, endoplasmic reticulum stress response and reduced mitochondrial functionality suggest an energy production defect in SDS cells. In our work, we have demonstrated that SDS cells display a Complex IV activity impairment, which causes an oxidative phosphorylation metabolism defect, with a consequent decrease in ATP production...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27127007/shwachman-diamond-syndrome-presenting-with-early-ichthyosis-associated-dermal-and-epidermal-intracellular-lipid-droplets-hypoglycemia-and-later-distinctive-clinical-sds-phenotype
#12
Emmanuel Scalais, Anne-Catherine Connerotte, Karine Despontin, Armand Biver, Chantal Ceuterick-de Groote, Marielle Alders, Athanassios Kolivras, Jean-Pierre Hachem, Linda De Meirleir
Shwachman-Diamond syndrome (SDS) is a recessive ribosomopathy, characterized by bone marrow failure and exocrine pancreatic insufficiency (ePI) often associated with neurodevelopmental and skeletal abnormalities. The aim of this report is to describe a SDS patient with early ichthyosis associated with dermal and epidermal intracellular lipid droplets (iLDs), hypoglycemia and later a distinctive clinical SDS phenotype. At 3 months of age, she had ichthyosis, growth retardation, and failure to thrive. She had not cytopenia...
July 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26866830/novel-myopathy-in-a-newborn-with-shwachman-diamond-syndrome-and-review-of-neonatal-presentation
#13
Alexandra Topa, Mar Tulinius, Anders Oldfors, Carola Hedberg-Oldfors
Shwachman-Diamond-Bodian syndrome (SDS) is a pleiotropic disorder in which the main features are bone marrow dysfunction and pancreatic insufficiency. Skeletal changes can occur, and in rare cases manifest as severe congenital thoracic dystrophy. We report a newborn boy with asphyxia, narrow thorax, and severe hypotonia initially suggesting a neuromuscular disease. The muscle biopsy showed myopathic changes with prominent variability in muscle fiber size and abnormal expression of developmental isoforms of myosin...
May 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26850260/structural-dynamics-of-the-yeast-shwachman-diamond-syndrome-protein-sdo1-on-the-ribosome-and-its-implication-in-the-60s-subunit-maturation
#14
Chengying Ma, Kaige Yan, Dan Tan, Ningning Li, Yixiao Zhang, Yi Yuan, Zhifei Li, Meng-Qiu Dong, Jianlin Lei, Ning Gao
The human Shwachman-Diamond syndrome (SDS) is an autosomal recessive disease caused by mutations in a highly conserved ribosome assembly factor SBDS. The functional role of SBDS is to cooperate with another assembly factor, elongation factor 1-like (Efl1), to promote the release of eukaryotic initiation factor 6 (eIF6) from the late-stage cytoplasmic 60S precursors. In the present work, we characterized, both biochemically and structurally, the interaction between the 60S subunit and SBDS protein (Sdo1p) from yeast...
March 2016: Protein & Cell
https://www.readbyqxmd.com/read/26762974/shwachman-bodian-diamond-syndrome-sbds-protein-deficiency-impairs-translation-re-initiation-from-c-ebp%C3%AE-and-c-ebp%C3%AE-mrnas
#15
Kyungmin In, Mohamad A Zaini, Christine Müller, Alan J Warren, Marieke von Lindern, Cornelis F Calkhoven
Mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene cause Shwachman-Diamond Syndrome (SDS), a rare congenital disease characterized by bone marrow failure with neutropenia, exocrine pancreatic dysfunction and skeletal abnormalities. The SBDS protein is important for ribosome maturation and therefore SDS belongs to the ribosomopathies. It is unknown, however, if loss of SBDS functionality affects the translation of specific mRNAs and whether this could play a role in the development of the clinical features of SDS...
May 19, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/26743985/deletion-of-mitochondrial-porin-alleviates-stress-sensitivity-in-the-yeast-model-of-shwachman-diamond-syndrome
#16
Waruenada Kanprasoet, Laran T Jensen, Suwimon Sriprach, Kanate Thitiananpakorn, Khanti Rattanapornsompong, Amornrat Naranuntarat Jensen
Shwachman-Diamond syndrome (SDS) is a multi-system disorder characterized by bone marrow failure, pancreatic insufficiency, skeletal abnormalities, and increased risk of leukemic transformation. Most patients with SDS contain mutations in the Shwachman-Bodian-Diamond syndrome gene (SBDS), encoding a highly conserved protein that has been implicated in ribosome biogenesis. Emerging evidence also suggests a distinct role of SBDS beyond protein translation. Using the yeast model of SDS, we examined the underlying mechanisms that cause cells lacking Sdo1p, the yeast SBDS ortholog, to exhibit reduced tolerance to various stress conditions...
December 20, 2015: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/26479198/mechanism-of-eif6-release-from-the-nascent-60s-ribosomal-subunit
#17
Félix Weis, Emmanuel Giudice, Mark Churcher, Li Jin, Christine Hilcenko, Chi C Wong, David Traynor, Robert R Kay, Alan J Warren
SBDS protein (deficient in the inherited leukemia-predisposition disorder Shwachman-Diamond syndrome) and the GTPase EFL1 (an EF-G homolog) activate nascent 60S ribosomal subunits for translation by catalyzing eviction of the antiassociation factor eIF6 from nascent 60S ribosomal subunits. However, the mechanism is completely unknown. Here, we present cryo-EM structures of human SBDS and SBDS-EFL1 bound to Dictyostelium discoideum 60S ribosomal subunits with and without endogenous eIF6. SBDS assesses the integrity of the peptidyl (P) site, bridging uL16 (mutated in T-cell acute lymphoblastic leukemia) with uL11 at the P-stalk base and the sarcin-ricin loop...
November 2015: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/26458429/-diagnosis-and-management-of-inherited-bone-marrow-failure-syndrome
#18
Miharu Yabe, Hiromasa Yabe
The inherited bone marrow failure syndromes (IBMFS) are rare disorders in which there is usually some form of bone marrow failure and typical changes in physical appearance, associated with a family history of the same disorder. Patients with IBMFS have a very high risk of developing myelodysplastic syndrome, acute myeloid leukemia, and solid tumors. The latest technology applied to the molecular pathogenesis of these disorders has led to identification of specific genetic mutations and now facilitates determining the appropriate diagnosis and management of afflicted patients...
October 2015: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/26432381/a-novel-mouse-model-provides-insights-into-the-neutropenia-associated-with-the-ribosomopathy-shwachman-diamond-syndrome
#19
EDITORIAL
Kim De Keersmaecker
No abstract text is available yet for this article.
October 2015: Haematologica
https://www.readbyqxmd.com/read/26408650/differential-expression-of-ribosomal-proteins-in-myelodysplastic-syndromes
#20
Elizabeth B Rinker, Julie C Dueber, Julianne Qualtieri, Jason Tedesco, Begum Erdogan, Amma Bosompem, Annette S Kim
Aberrations of ribosomal biogenesis have been implicated in several congenital bone marrow failure syndromes, such as Diamond-Blackfan anaemia, Shwachman-Diamond syndrome and Dyskeratosis Congenita. Recent studies have identified haploinsufficiency of RPS14 in the acquired bone marrow disease isolated 5q minus syndrome, a subtype of myelodysplastic syndromes (MDS). However, the expression of various proteins comprising the ribosomal subunits and other proteins enzymatically involved in the synthesis of the ribosome has not been explored in non-5q minus MDS...
February 2016: Journal of Clinical Pathology
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