Journal ArticleDOI
Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome
Jill R. Woloszynek,Robert J. Rothbaum,Amy S. Rawls,Patrick Minx,Richard K. Wilson,Philip J. Mason,Monica Bessler,Daniel C. Link +7 more
TLDR
It is shown that most, but not all, patients classified based on rigorous clinical criteria as having SDS had compound heterozygous mutations of SBDS, suggesting that SDS is a genetically heterogeneous disorder.About:
This article is published in Blood.The article was published on 2004-12-01. It has received 120 citations till now. The article focuses on the topics: SBDS & Shwachman–Diamond syndrome.read more
Citations
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Journal ArticleDOI
Mesenchymal Inflammation Drives Genotoxic Stress in Hematopoietic Stem Cells and Predicts Disease Evolution in Human Pre-leukemia.
Noemi A. Zambetti,Zhen Ping,Si Chen,Keane Jared Guillaume Kenswil,Maria Athina Mylona,Mathijs A. Sanders,Remco Hoogenboezem,Eric Bindels,Maria Niken 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 +22 more
TL;DR: P perturbation of mesenchymal cells in a mouse model of the pre-leukemic disorder Shwachman-Diamond syndrome induces mitochondrial dysfunction, oxidative stress, and activation of DNA damage responses in hematopoietic stem and progenitor cells.
Journal ArticleDOI
Anticipating the $1,000 genome
TL;DR: Why the $1,000 human genome is an important goal for research and clinical diagnostics, and what will be required to achieve it are examined.
Journal ArticleDOI
Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.
Yigal Dror,Jean Donadieu,Jutta Köglmeier,John A Dodge,Sanna Toiviainen-Salo,Outi Mäkitie,Elizabeth Kerr,Cornelia Zeidler,Akiko Shimamura,Neil Shah,Marco Cipolli,Taco W. Kuijpers,Peter R. Durie,Johanna M. Rommens,Liesbeth Siderius,Johnson M. Liu +15 more
TL;DR: Draft guidelines for diagnosis, evaluation of organ and system abnormalities, and treatment of hematologic, pancreatic, dietary, dental, skeletal, and neurodevelopmental complications for Shwachman‐Diamond syndrome are provided.
Journal ArticleDOI
Shwachman-Diamond Syndrome: A Review of the Clinical Presentation, Molecular Pathogenesis, Diagnosis, and Treatment
TL;DR: This article focuses on the clinical presentation, diagnostic work-up, clinical management, and treatment of patients with Shwachman-Diamond syndrome.
Journal ArticleDOI
The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA.
Karthik A. Ganapathi,Karyn M. Austin,Chung Sheng Lee,Anusha P. Dias,Maggie Malsch,Robin Reed,Akiko Shimamura,Akiko Shimamura +7 more
TL;DR: Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by bone marrow failure, exocrine pancreatic dysfunction, and leukemia predisposition as discussed by the authors.
References
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Journal ArticleDOI
Mutations in SBDS are associated with Shwachman–Diamond syndrome
Graeme R.B. Boocock,Jodi Morrison,Maja Popovic,Nicole Richards,Lynda Ellis,Peter R. Durie,Johanna M. Rommens +6 more
TL;DR: Identification of disease-associated mutations in an uncharacterized gene, SBDS, in the interval of 1.9 cM at 7q11 is reported, suggesting that SDS may be caused by a deficiency in an aspect of RNA metabolism essential for development of the exocrine pancreas, hematopoiesis and chrondrogenesis.
Journal ArticleDOI
The syndrome of pancreatic insufficiency and bone marrow dysfunction
Harry Shwachman,Harry Shwachman,Louis K. Diamond,Louis K. Diamond,Frank A. Oski,Frank A. Oski,Kon-T Khaw,Kon-T Khaw +7 more
TL;DR: A new entity characterized by pancreaatic insufficiency and bone marrow hypoplasia is described and should be suspected in infants who fail to gain weight, have abnormal stools, and neutropenia, as well as those children who are thought to have cystic fibrosis diagnosed on the basis of pancreatic insUFFiciency with normal sweat electrolytes.
Journal ArticleDOI
Shwachman's syndrome. A review of 21 cases.
TL;DR: Sibship segregation ratios support an autosomal mode of inheritance and an hypothesis for the pathophysiological basis of this syndrome is advanced.
Journal ArticleDOI
Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar.
Hedy Ginzberg,Janey Shin,Lynda Ellis,Jodi Morrison,Wan Ip,Yigal Dror,Melvin H. Freedman,Leo A. Heitlinger,Mary Ann Belt,Mary Corey,Johanna M. Rommens,Peter R. Durie +11 more
TL;DR: Clinical features among patients with Shwachman syndrome varied between patients and with age, and similarities in phenotype between isolated cases and affected sibling sets support the hypothesis that Shwacman syndrome is a single disease entity.
Journal ArticleDOI
Haematological abnormalities in Shwachman-Diamond syndrome
TL;DR: Shwachman‐Diamond syndrome is an interesting model of leukaemia development and greater understanding of the clinical spectrum of this rare disorder should produce further insights into its pathobiology.