Literature DB >> 30198570

Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.

Jacopo Morini1, Lucia Nacci2, Gabriele Babini1, Simone Cesaro3, Roberto Valli4, Andrea Ottolenghi1, Elena Nicolis5, Emily Pintani5, Emanuela Maserati4, Marco Cipolli6, Cesare Danesino2, Claudia Scotti2, Antonella Minelli2.   

Abstract

Entities:  

Keywords:  Shwachman-Diamond syndrome; bone marrow diseases; computational biology; single nucleotide polymorphisms; whole exome sequencing

Mesh：

Substances：

Year:  2018        PMID： 30198570     DOI： 10.1111/bjh.15594

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  5 in total

Review 1.  Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.

Authors:  Valentino Bezzerri; Marco Cipolli
Journal:  Mol Diagn Ther       Date:  2019-04       Impact factor: 4.074

Review 2.  Novel Genetic Discoveries in Primary Immunodeficiency Disorders.

Authors:  Margaret T Redmond; Rebecca Scherzer; Benjamin T Prince
Journal:  Clin Rev Allergy Immunol       Date:  2022-01-12       Impact factor: 10.817

3.  Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.

Authors:  Ibrahim Taha; Federica De Paoli; Selena Foroni; Susanna Zucca; Ivan Limongelli; Marco Cipolli; Cesare Danesino; Ugo Ramenghi; Antonella Minelli
Journal:  Genes (Basel)       Date:  2022-07-23       Impact factor: 4.141

4.  Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.

Authors:  Ibrahim Taha; Selena Foroni; Roberto Valli; Annalisa Frattini; Pamela Roccia; Giovanni Porta; Marco Zecca; Elena Bergami; Marco Cipolli; Francesco Pasquali; Cesare Danesino; Claudia Scotti; Antonella Minelli
Journal:  Front Genet       Date:  2022-08-12       Impact factor: 4.772

Review 5.  Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases.

Authors:  Maxime Aubert; Marie-Françoise O'Donohue; Simon Lebaron; Pierre-Emmanuel Gleizes
Journal:  Biomolecules       Date:  2018-10-24
  5 in total

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