☆ 4.4 Editorial Material

A novel mouse model provides insights into the neutropenia associated with the ribosomopathy Shwachman-Diamond syndrome

HAEMATOLOGICA (2015)

Journal

HAEMATOLOGICA

Volume 100, Issue 10, Pages 1237-1239

Publisher

FERRATA STORTI FOUNDATION

DOI: 10.3324/haematol.2015.133777

Keywords

-

Categories

Hematology

Funding

European Research Council [334946] Funding Source: Medline
European Research Council (ERC) [334946] Funding Source: European Research Council (ERC)

Ask authors/readers for more resources

Protocol

Community support

Reagent

Community support

Authors

I am an author on this paper

Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.4

Not enough ratings

Secondary Ratings

Novelty

-

Significance

-

Scientific rigor

-

Rate this paper

Recommended

Article Genetics & Heredity

Case Report: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis

Adela Chirita-Emandi, Carmen-Angela-Maria Petrescu, Cristian G. Zimbru, Florina Stoica, Catalin Marian, Andreea Ciubotaru, Mihaela Bataneant, Maria Puiu

Summary: Bone marrow failure syndrome type 3 is a life-threatening disorder with unknown etiology, and genetic sequencing can aid in accurate diagnosis and improve patient management.

FRONTIERS IN GENETICS (2022)

Add to Collection

Review Oncology

Shwachman-Diamond syndrome and solid tumors: Three new patients from the French Registry for Severe Chronic Neutropenia and literature review

Fares Bou Mitri, Blandine Beaupain, Jean-Francois Flejou, Matthieu Patient, Ilona Okhremchuck, Didier Blaise, Faezeh Izadifar-Legrand, Jean Alain Martignoles, Francois Delhommeau, Christine Bellanne-Chantelot, Jean-Francois Emile, Jean Donadieu

Summary: Shwachman-Diamond syndrome with Shwachman-Bodian-Diamond syndrome (SBDS) biallelic variants is a rare disorder that predisposes carriers to malignant hemopathies, with limited understanding of solid-cancer predisposition. Solid tumors were identified in three out of 155 cases in the French Registry for Severe Chronic Neutropenia, occurring predominantly in adults during the fifth decade and resulting in rapid fatal outcomes despite localized diagnosis. No cancers were observed post transplantation in the 14 HSCT survivors, indicating a potential link between the syndrome and solid cancer development in adults.

PEDIATRIC BLOOD & CANCER (2021)

Add to Collection

Article Biochemistry & Molecular Biology

A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS

Elena Spinetti, Pietro Delre, Michele Saviano, Dritan Siliqi, Gianluca Lattanzi, Giuseppe Felice Mangiatordi

Summary: Shwachman-Diamond Syndrome (SDS) is a rare genetic disease with no specific treatment currently available. This study used comparative molecular dynamics simulations to analyze three SBDS mutants and found that both an open and closed conformation of SBDS are necessary for its proper function, providing new insights into SDS pathogenesis.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

Add to Collection

Article Medicine, General & Internal

Shwachman-diamond syndrome A case report

Huihan Tan, Dequan Su, Zhiqiang Zhuo

Summary: This study analyzed the genetic abnormalities and clinical manifestations of SDS, showing that elevated transaminase and restricted growth are common initial symptoms. Genetic testing is helpful for diagnosis.

MEDICINE (2021)

Add to Collection

Article Biochemistry & Molecular Biology

Novel Translational Read-through-Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome

Valentino Bezzerri, Laura Lentini, Martina Api, Elena Marinelli Busilacchi, Vincenzo Cavalieri, Antonella Pomilio, Francesca Diomede, Anna Pegoraro, Simone Cesaro, Antonella Poloni, Andrea Pace, Oriana Trubiani, Giuseppe Lippi, Ivana Pibiri, Marco Cipolli

Summary: The study evaluated the effect of a panel of ataluren analogues in treating Shwachman-Diamond syndrome (SDS). The results showed that NV848 can restore SBDS protein synthesis, improve myeloid differentiation, and reduce the number of dysplastic granulocytes, providing new possibilities for the treatment of SDS.

BIOMEDICINES (2022)

Add to Collection

Review Hematology

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

Christopher R. Reilly, Akiko Shimamura

Summary: Shwachman-Diamond syndrome (SDS) is an inherited multisystem ribosomopathy characterized by exocrine pancreatic deficiency, bone marrow failure, and predisposition to myeloid malignancies. Patients with SDS who undergo routine bone marrow surveillance and receive hematopoietic stem cell transplant (HSCT) before developing overt malignancy have improved outcomes. Recent studies have found distinct patterns of somatic blood mutations in patients with SDS, suggesting the potential for molecular surveillance to enhance the detection of incipient myeloid malignancies when HSCT may be most effective.

BLOOD (2023)

Add to Collection

Article Biology

Geographically diverse canid sampling provides novel insights into pre-industrial microbiomes

K. Yarlagadda, A. J. Zachwieja, A. de Flamingh, T. Phungviwatnikul, A. G. Rivera-Colon, C. Roseman, L. Shackelford, K. S. Swanson, R. S. Malhi

Summary: Canine microbiome studies often lack global data due to geographic and temporal limitations. A study on the fecal microbiomes of pet dogs from South Africa, shelter and stray dogs from India, and stray village dogs in Laos revealed that diet alone is insufficient to replicate the high diversity observed in the microbiome of dogs from Laos. Comparisons to ancient dog fecal microbiomes and human studies suggest that dogs can be used as substitutes for studying the effects of industrialization on the microbiome.

PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2022)

Add to Collection

Article Biotechnology & Applied Microbiology

Quantitative analysis of transcriptome dynamics provides novel insights into developmental state transitions

Kristin Johnson, Simon Freedman, Rosemary Braun, Carole LaBonne

Summary: This study investigates the process of pluripotent cells transitioning to lineage-restricted states using transcriptomics, providing valuable time series data for understanding developmental decision making.

BMC GENOMICS (2022)

Add to Collection

Article Biochemistry & Molecular Biology

Systems-level multi-omics characterization provides novel molecular insights into indomethacin toxicity

Nguyen Thi Hai Yen, Jung-Hwa Oh, Nguyen Thi Van Anh, Quoc-Viet Le, Se-Myo Park, Young Jin Park, Yong-Soon Cho, Kyoung-Sik Moon, Huy Truong Nguyen, Jae-Gook Shin, Nguyen Phuoc Long, Dong Hyun

Summary: This study conducted multi-specimen molecular characterization in rats treated with different doses of indomethacin to investigate its toxicity mechanism. The results showed that a dose of 10 mg/kg of indomethacin caused significant metabolic changes and kidney injury. Analysis revealed an oxidant-antioxidant imbalance and dysfunction of mitochondria, which resulted in the dysregulation of metabolites and genes related to the kidney, as well as the suppression of amino acid and fatty acid metabolism. These findings provide insights into the mechanism of indomethacin toxicity and suggest potential targets for reducing its toxicity.

CHEMICO-BIOLOGICAL INTERACTIONS (2023)

Add to Collection

Article Multidisciplinary Sciences

The wild allotetraploid sesame genome provides novel insights into evolution and lignan biosynthesis

Xiao Wang, Sen Wang, Qiang Lin, Jianjun Lu, Shiyou Lv, Yanxin Zhang, Xuefang Wang, Wei Fan, Wanfei Liu, Liangxiao Zhang, Xiurong Zhang, Jun You, Peng Cui, Peiwu Li

Summary: This study investigates the genetic basis and adaptive evolution of wild and cultivated sesame by constructing high-quality genomes. The findings reveal the strong environmental adaptability and high sesamolin content of wild sesame, as well as the positive selection and gene family expansion in stress response genes. This study provides valuable insights into sesame evolution and improvement.

JOURNAL OF ADVANCED RESEARCH (2023)

Add to Collection

Article Multidisciplinary Sciences

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

Alyssa L. Kennedy, Kasiani C. Myers, James Bowman, Christopher J. Gibson, Nicholas D. Camarda, Elissa Furutani, Gwen M. Muscato, Robert H. Klein, Kaitlyn Ballotti, Shanshan Liu, Chad E. Harris, Ashley Galvin, Maggie Malsch, David Dale, John M. Gansner, Taizo A. Nakano, Alison Bertuch, Adrianna Vlachos, Jeffrey M. Lipton, Paul Castillo, James Connelly, Jane Churpek, John R. Edwards, Nobuko Hijiya, Richard H. Ho, Inga Hofmann, James N. Huang, Sioban Keel, Adam Lamble, Bonnie W. Lau, Maxim Norkin, Elliot Stieglitz, Wendy Stock, Kelly Walkovich, Steffen Boettcher, Christian Brendel, Mark D. Fleming, Stella M. Davies, Edie A. Weller, Christopher Bahl, Scott L. Carter, Akiko Shimamura, R. Coleman Lindsley

Summary: Research on germline genetic leukemia predisposition in Shwachman-Diamond syndrome identified early emergence of multiple hematopoietic clones with EIF6 or TP53 mutations. The germline SBDS deficiency constrains clone selection via compensatory EIF6 inactivation and maladaptive TP53 mutations, with subsequent leukemia linked to biallelic TP53 alterations. These findings offer insights into clinical surveillance strategies.

NATURE COMMUNICATIONS (2021)

Add to Collection

Article Plant Sciences

Comparative transcriptomic provides novel insights into the soybean response to Colletotrichum truncatum infection

Thais R. Boufleur, Nelson S. S. Massola Jr, Sioly Becerra, Elena Baraldi, Lillian B. J. Bibiano, Serenella A. A. Sukno, Michael R. R. Thon, Riccardo Baroncelli

Summary: This study investigates the response of soybean to different strains of C. truncatum and reveals that different soybean cultivars exhibit varying levels of susceptibility. The study also identifies genes related to the plant immune system that play important roles in defense against soybean anthracnose.

FRONTIERS IN PLANT SCIENCE (2022)

Add to Collection

Article Agriculture, Multidisciplinary

Biochemical Characterization of a GH46 Chitosanase Provides Insights into the Novel Digestion Specificity

Haipeng Su, Hongjun Zhao, Zhenrong Jia, Chaoran Guo, Jianan Sun, Xiangzhao Mao

Summary: This study reveals the digestion specificity and subsite specificity of monosaccharide production by endo-chitosanases, providing a unique example of possible structure-function relationships.

JOURNAL OF AGRICULTURAL AND FOOD CHEMISTRY (2023)

Add to Collection

Article Genetics & Heredity

Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19

Sarah Cole, Neelam Giri, Blanche P. Alter, D. Matthew Gianferante

Summary: Diamond Blackfan anemia (DBA) is a rare genetic disorder characterized by failure of red blood cell production. This study investigated a large family with DBA and found a pathogenic variant in the RPS19 gene in ten family members. Most affected individuals showed steroid-responsive anemia in infancy and mild congenital malformations. However, two individuals were relatively unaffected, indicating the presence of modifier genes or other factors. These findings emphasize the need for personalized treatment and early cancer surveillance even in individuals with mild phenotypes.

FRONTIERS IN GENETICS (2022)

Add to Collection

Article Plant Sciences

Comparative Transcriptomic Analysis Provides Novel Insights into the Blanched Stem of Oenanthe javanica

Sunjeet Kumar, Xinfang Huang, Gaojie Li, Qun Ji, Kai Zhou, Guopeng Zhu, Weidong Ke, Hongwei Hou, Honglian Zhu, Jingjing Yang

Summary: Blanching significantly affects gene expression and pathways in the stems of water dropwort, impacting photosynthesis and plant hormone signal transduction pathways.

PLANTS-BASEL (2021)

Add to Collection

Article Hematology

Single-cell DNA amplicon sequencing reveals clonal heterogeneity and evolution in T-cell acute lymphoblastic leukemia

Llucia Alberti-Servera, Sofie Demeyer, Inge Govaerts, Toon Swings, Jolien De Bie, Olga Gielen, Marco Brociner, Lucienne Michaux, Johan Maertens, Anne Uyttebroeck, Kim De Keersmaecker, Nancy Boeckx, Heidi Segers, Jan Cools

Summary: T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive leukemia characterized by chromosomal rearrangements and somatic mutations in protein-coding regions. Most T-ALL cases have activating mutations in NOTCH1 and other genes related to signaling and regulation. Single-cell DNA sequencing reveals clonal architecture and evolution in T-ALL, showing major and minor clones at diagnosis and during treatment.

BLOOD (2021)

Add to Collection

Article Oncology

Repurposing the Antidepressant Sertraline as SHMT Inhibitor to Suppress Serine/Glycine Synthesis-Addicted Breast Tumor Growth

Shauni Lien Geeraerts, Kim Rosalie Kampen, Gianmarco Rinaldi, Purvi Gupta, Melanie Planque, Nikolaos Louros, Elien Heylen, Kaat De Cremer, Katrijn De Brucker, Stijn Vereecke, Benno Verbelen, Pieter Vermeersch, Joost Schymkowitz, Frederic Rousseau, David Cassiman, Sarah-Maria Fendt, Arnout Voet, Bruno P. A. Cammue, Karin Thevissen, Kim De Keersmaecker

Summary: Metabolic rewiring in cancer cells often leads to dependency on intracellular serine/glycine synthesis. This study repurposed the drugs sertraline and thimerosal to selectively target serine/glycine synthesis-addicted breast cancer and T-cell acute lymphoblastic leukemia cells. The combination of sertraline and mitochondrial inhibitors showed promising antitumor activity by inhibiting serine/glycine synthesis and mitochondrial metabolism simultaneously.

MOLECULAR CANCER THERAPEUTICS (2021)

Add to Collection

Article Hematology

14q32 rearrangements deregulating BCL11B mark a distinct subgroup of T-lymphoid and myeloid immature acute leukemia

Danika Di Giacomo, Roberta La Starza, Paolo Gorello, Fabrizia Pellanera, Zeynep Kalender Atak, Kim De Keersmaecker, Valentina Pierini, Christine J. Harrison, Silvia Arniani, Martina Moretti, Nicoletta Testoni, Giovanna De Santis, Giovanni Roti, Caterina Matteucci, Renato Bassan, Peter Vandenberghe, Stein Aerts, Jan Cools, Beat Bornhauser, Jean-Pierre Bourquin, Rocco Piazza, Cristina Mecucci

Summary: The study identified a distinct subgroup of immature acute leukemias characterized by 14g32/BCL11B translocations, including AML, TIM MPAL, and ETP-ALL. These translocations activate BCL11B, whose expression behaves as a disease biomarker present at diagnosis and co-occurs with variants at FLT3 and epigenetic modulators. Transcriptome analysis revealed a specific expression signature separating BCL11B AL from AML, T-ALL, and ETP-ALL, with an ex vivo drug-sensitivity profile identifying effective antileukemic compounds.

BLOOD (2021)

Add to Collection

Article Oncology

PSEN1-selective gamma-secretase inhibition in combination with kinase or XPO-1 inhibitors effectively targets T cell acute lymphoblastic leukemia

Inge Govaerts, Cristina Prieto, Charlien Vandersmissen, Olga Gielen, Kris Jacobs, Sarah Provost, David Nittner, Johan Maertens, Nancy Boeckx, Kim De Keersmaecker, Heidi Segers, Jan Cools

Summary: In the treatment of T-ALL, combination treatment strategies using PSEN1-selective gamma-secretase inhibitor MRK-560 with other targeted agents show synergistic effects, reducing leukemia infiltration and providing survival benefits.

JOURNAL OF HEMATOLOGY & ONCOLOGY (2021)

Add to Collection

Article Hematology

Optimizing the diagnostic workflow for acute lymphoblastic leukemia by optical genome mapping

Katrina Rack, Jolien De Bie, Genevieve Ameye, Olga Gielen, Sofie Demeyer, Jan Cools, Kim De Keersmaecker, Joris R. Vermeesch, Johan Maertens, Heidi Segers, Lucienne Michaux, Barbara Dewaele

Summary: Acute lymphoblastic leukemia (ALL) is a malignant disease that can be divided into distinct subtypes based on clinical and genomic features. Traditional diagnostic methods are laborious and costly. This study applied optical genome mapping (OGM) to diagnose ALL and found that OGM can accurately detect common genomic abnormalities, improve the detection rate and cytogenetic resolution, and reduce turnaround time.

AMERICAN JOURNAL OF HEMATOLOGY (2022)

Add to Collection

Meeting Abstract Hematology

Loss of the Base Excision Repair Gene Apex1 Leads to Dysfunctional Adult Hematopoietic Stem and Progenitor Cells

Samantha Zaunz, Lukas Lauwereins, Manmohan Bajaj, Beatriz Guapo Neves, Francheska Cadacio, Lana Cleuren, Celine Notredame, Jurgen Marteijn, Kim De Keersmaecker, Catherine M. Verfaillie

BLOOD (2021)

Add to Collection

Article Biotechnology & Applied Microbiology

Exploitation of the ribosomal protein L10 R98S mutation to enhance recombinant protein production in mammalian cells

Benno Verbelen, Tiziana Girardi, Sergey O. Sulima, Stijn Vereecke, Paulien Verstraete, Jelle Verbeeck, Jonathan Royaert, Sonia Cinque, Lorenzo Montanaro, Marianna Penzo, Maya Imbrechts, Nick Geukens, Thomas Geuens, Koen Dierckx, Daniele Pepe, Kim Kampen, Kim De Keersmaecker

Summary: This study presents a novel approach to improve protein yields in mammalian cells by directly engineering the cellular translation machinery. The introduction of RPL10-R98S mutation was found to enhance translation levels and fidelity, reduce proteasomal activity, and increase the production of recombinant proteins. However, the extent of production gain depends on culture conditions, cell type, and the nature of the expressed protein.

ENGINEERING IN LIFE SCIENCES (2022)

Add to Collection

Article Hematology

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

Marie-Francoise O'donohue, Lydie Da Costa, Marco Lezzerini, Sule Unal, Clement Joret, Marije Bartels, Eva Brilstra, Marijn Scheijde-Vermeulen, Ludivine Wacheul, Kim De Keersmaecker, Stijn Vereecke, Veerle Labarque, Manon Saby, Sophie D. Lefevre, Jessica Platon, Nathalie Montel-Lehry, Nathalie Laugero, Eric Lacazette, Koen van Gassen, Riekelt H. Houtkooper, Pelin Ozlem Simsek-Kiper, Thierry Leblanc, Nese Yarali, Arda Cetinkaya, Nurten A. Akarsu, Pierre-Emmanuel Gleizes, Denis L. J. Lafontaine, Alyson W. MacInnes

Summary: The study reports that individuals with biallelic HEATR3 variants exhibit bone marrow failure, short stature, dysmorphic features, and intellectual disability, similar to Diamond-Blackfan anemia. These variants destabilize a protein important for nuclear import, impacting ribosomal subunit formation and p53 tumor suppressor stabilization.

BLOOD (2022)

Add to Collection

Article Oncology

Transcription factor NKX2-1 drives serine and glycine synthesis addiction in cancer

Elien Heylen, Paulien Verstraete, Linde Van Aerschot, Shauni L. Geeraerts, Tom Venken, Kalina Timcheva, David Nittner, Jelle Verbeeck, Jonathan Royaert, Marion Gijbels, Anne Uyttebroeck, Heidi Segers, Diether Lambrechts, Jan Cools, Kim De Keersmaecker, Kim R. Kampen

Summary: This study identifies the transcription factor NKX2-1 as a driver of serine/glycine synthesis addiction in cancer cells. NKX2-1 binds and transcriptionally upregulates serine/glycine synthesis enzyme genes, enabling cells expressing NKX2-1 to proliferate and invade in serine/glycine-depleted conditions. The findings reveal the unique metabolic rewiring of NKX2-1-driven cancers and provide possibilities for new therapeutic strategies.

BRITISH JOURNAL OF CANCER (2023)

Add to Collection

Review Biochemistry & Molecular Biology

Drivers of de novo Serine/Glycine synthesis in acute leukemia

Paulien Verstraete, Kim De Keersmaecker, Kim Rosalie Kampen

Summary: Cancer cells increase their production of serine and glycine through metabolic rewiring, specifically through upregulation of de novo serine/glycine synthesis. This review focuses on the upregulation of endogenous serine/glycine production in acute leukemia, including T-cell acute leukemia (T-ALL) and acute myeloid leukemia (AML). Genetic lesions directly impacting serine/glycine addiction in acute leukemia have been identified, along with indirect regulation of de novo serine/glycine synthesis.

FEBS LETTERS (2023)

Add to Collection

Article Cell & Tissue Engineering

APEX1 Nuclease and Redox Functions are Both Essential for Adult Mouse Hematopoietic Stem and Progenitor Cells

Samantha Zaunz, Jonathan De Smedt, Lukas Lauwereins, Lana Cleuren, Charlie Laffeber, Manmohan Bajaj, Joyce H. G. Lebbink, Jurgen A. Marteijn, Kim De Keersmaecker, Catherine Verfaillie

Summary: APEX1 plays a crucial role in adult regenerative hematopoiesis, with its nuclease and redox domains impacting proliferating HSPCs differently.

STEM CELL REVIEWS AND REPORTS (2023)

Add to Collection

Meeting Abstract Hematology

UNRAVELLING DRUG RESISTANCE AND SENSITIZATION TO PROTEASOME INHIBITORS USING GENOME-WIDE CRISPR-CAS9 KNOCKOUT SCREENING.

Sophie Vlayen, Marino Caruso, Kim De Keersmaecker, Dirk Daelemans, Michel Delforge

EXPERIMENTAL HEMATOLOGY (2023)

Add to Collection

Meeting Abstract Hematology

APEX1 NUCLEASE AND REDOX FUNCTIONS ARE BOTH ESSENTIAL FOR ADULT HEMATOPOIETIC STEM AND PROGENITOR CELLS.

Samantha Zaunz, Lukas Lauwereins, Jonathan De Smedt, Lana Cleuren, Manmohan Bajaj, Jurgen Marteijn, Kim De Keersmaecker, Catherine Verfaillie

EXPERIMENTAL HEMATOLOGY (2022)

Add to Collection

Article Hematology

Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing

Sarah Meyers, Llucia Alberti-Servera, Olga Gielen, Margot Erard, Toon Swings, Jolien De Bie, Lucienne Michaux, Barbara Dewaele, Nancy Boeckx, Anne Uyttebroeck, Kim De Keersmaecker, Johan Maertens, Heidi Segers, Jan Cools, Sofie Demeyer

Summary: This study used single cell-targeted DNA sequencing to evaluate the clonal heterogeneity of B-ALL and found that half of the cases showed multiple subclones at diagnosis. During chemotherapy treatment, leukemia clones disappeared and even rare mutant cells were easily detectable by single cell-targeted DNA sequencing.

HEMASPHERE (2022)

Add to Collection

Review Endocrinology & Metabolism

The ins and outs of serine and glycine metabolism in cancer

Shauni L. Geeraerts, Elien Heylen, Kim De Keersmaecker, Kim R. Kampen

Summary: Cancer cells reprogram their metabolism to hyperactivate serine and glycine synthesis, relying on de novo production and genetic alterations to enhance their survival and proliferation. Serine and glycine synthesis play a crucial role in cancer progression, contributing to macromolecule synthesis, oxidative stress neutralization, and regulation of biological processes like methylation.

NATURE METABOLISM (2021)

Add to Collection

No Data Available

© Peeref 2019-2024. All rights reserved.