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12 documents found
1: Title: A semi-automated whole exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Authors: Ji, Jianling, et.al. .
Journal: Cold Spring Harbor molecular case studies (Cold Spring Harb Mol Case Stud), 2019 .
Snippet: The semi-automated and streamlined WES workflow also enabled us to identify novel variants in candidate disease genes in patients with developmental delay and autism, immune disorders and cancer, including ANK2, BPTF, BCL11A, FOXN1, PLAA, ATRX, DNAJC21, and RAD50.
Affiliation: Children's Hospital Los Angeles. University of La Verne. Children's Hospital Los Angeles; xgai@chla.usc.edu. .
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2: Title: Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.
Authors: Bezzerri, Valentino, et.al. .
Journal: Molecular diagnosis & therapy (Mol Diagn Ther), 2018 .
Snippet: Interestingly, SBDS, DNAJC21, EFL1 and SRP54 are involved in ribosome biogenesis: SBDS, through direct interaction with EFL1, promotes the release of the eukaryotic initiation factor 6 (eIF6) during ribosome maturation, DNAJC21 stabilizes the 80S ribosome, and SRP54 facilitates protein trafficking.
Affiliation: Cystic Fibrosis Center, Azienda Ospedaliero Universitaria Ospedali Riuniti di Ancona, Via Conca 71, 60126, Torrette, Ancona, Italy. Cystic Fibrosis Center, Azienda Ospedaliero Universitaria Ospedali Riuniti di Ancona, Via Conca 71, 60126, Torrette, Ancona, Italy. marco.cipolli@ospedaliriuniti.marche.it. .
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3: Title: Shwachman-Diamond Syndrome
Publisher: University of Washington, Seattle GeneReviews(®)
Snippet: Exocrine pancreatic insufficiency is treated with oral pancreatic enzymes and fat-soluble vitamin supplementation.
Affiliation: Assistant Professor of Pediatrics, Division of Blood and Marrow Transplantation and Immune Deficiency, The Cancer and Blood Diseases Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio .
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4: Title: 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.
Authors: Morini, Jacopo, et.al. .
Journal: British journal of haematology (Br J Haematol), 2018 .
No Abstract available.
Affiliation: Department of Physics, University of Pavia, Pavia, Italy. Department of Molecular Medicine, University of Pavia, Pavia, Italy. Oncoematologia Pediatrica, Azienda Ospedaliera Universitaria Integrata, Verona, Italy. Department of Medicine and Surgery, University of Insubria, Varese, Italy. Laboratory of Transfusion Medicine, University Hospital of Verona, Verona, Italy. Cystic Fibrosis Regional Centre Ospedali Riuniti, Ancona, Italy. .
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5: Title: Refining the phenotype associated with biallelic DNAJC21 mutations.
Authors: D'Amours, G, et.al. .
Journal: Clinical genetics (Clin Genet), 2018 .
Snippet: DNAJC21, which is involved in ribosome biogenesis, was recently linked to bone marrow failure.
Affiliation: Service de Génétique Médicale, CHU Sainte-Justine, Montréal, Canada. Faculté de Médecine, Université de Montréal, Montréal, Canada. Centre de Recherche, CHU Sainte-Justine, Montréal, Canada. Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal. ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal. Laboratoire de Diagnostic Moléculaire, CHU Sainte-Justine, Montréal, Canada. Centre Intégré de Génomique Clinique Pédiatrique, Montréal, Canada. Blood and Marrow Transplant Unit, Royal Manchester Children's Hospital, Manchester, UK. Service d'Endocrinologie, CHU Sainte-Justine, Montréal, Canada. Département de Pédiatrie, Université de Montréal, Montréal, Canada. Département d'Hématologie Pédiatrique, CHU Robert-Debré, Paris, France. Service de Génétique Clinique, CHU Robert-Debré, Paris, France. Département de Pédiatrie, CHU Sainte-Justine, Montréal, Canada. Service d'Hématologie-Oncologie, CHU Sainte-Justine, Montréal, Canada. .
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6: Title: A landscape of germline mutations in a cohort of inherited bone marrow failure patients.
Authors: Bluteau, Olivier, et.al. .
Journal: Blood, 2017 .
Snippet: These included genes in familial hematopoietic disorders (GATA2, RUNX1), telomeropathies (TERC, TERT, RTEL1), ribosome disorders (SBDS, DNAJC21, RPL5), and DNA repair deficiency (LIG4) Many patients had an atypical presentation, and the mutated gene was often not clinically suspected.
Affiliation: Saint-Louis Hospital, Hematology Laboratory, APHP, Paris, France. University Paris Diderot, France. Robert Debre Hospital, Department of Pediatric Hematology, Paris, France. EA 3518, Institut Universitaire d'Hematologie, Paris, France. Hematology Laboratory, Robert Debre Hospital, Paris, France. INSERM U944/CNRS UMR7212, Institut Universitaire d'Hematologie, Paris, France. Hematology/Transplantation, APHP, Saint-Louis Hospital, Paris, France. Clinical Hematology Departments, Saint-Louis Hospital, Paris, France. University Paris Diderot, Paris, France. Henri Mondor Hospital, Hematology Department, Creteil, France. CHRU Nancy, Hematology Pediatrics Department and Genetic laboratory, France. Institut of Hematology and Pediatric Oncology (IHOP), Universite Lyon 1, France. CHU de Nantes, Hematology Department, France. CHU de Lille, Pediatrics Hematology, France. CHU Angers, Hematology-Oncology and Immunology Department, France. CRCINA, INSERM, Nantes University and Angers University, Angers, France. Necker-Enfants-Malades Hospital, Pediatric Hematology Immunology Unit, and Paris Descartes University, France. Pediatric Hematology-Oncology, Trousseau Hospital and HUEP, Paris, France. Timone Enfants Hospital, Department of Pediatric Hematology and Oncology, and Aix-Marseille University, Marseille, France. INSERM UMR 1160, Paris, France. University Paris Diderot, France; jean.soulier@sls.aphp.fr. .
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7: Title: Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.
Journal: Advances in biological regulation (Adv Biol Regul), 2017 .
Snippet: In particular, recent advances in cryo-electron microscopy, coupled with genetic, biochemical and prior structural data, have revealed that the SBDS protein that is deficient in the inherited leukaemia predisposition disorder Shwachman-Diamond syndrome couples the final step in cytoplasmic 60S ribosomal subunit maturation to a quality control assessment of the structural and functional integrity of the nascent particle.
Affiliation: Cambridge Institute for Medical Research, Cambridge, UK; The Department of Haematology, University of Cambridge, Cambridge, UK; Wellcome Trust-Medical Research Council Stem Cell Institute, University of Cambridge, Cambridge, UK. Electronic address: ajw1000@cam.ac.uk. .
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8: Title: DNAJC21: the new kid on the SDS block.
Journal: Blood, Vol. 129 (11): 1413-1414, 2017 .
No Abstract available.
Affiliation: THE UNIVERSITY OF CHICAGO. .
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9: Title: Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
Authors: Dhanraj, Santhosh, et.al. .
Journal: Blood, Vol. 129 (11): 1557-1562, 2017 .
No Abstract available.
Affiliation: Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada. Institute of Medical Science, University of Toronto, Toronto, ON, Canada. Marrow Failure and Myelodysplasia Program, Division of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada. Division of Haematology Oncology, Children's Hospital of Western Ontario, London, ON, Canada. Division of Clinical and Metabolic Genetics. Department of Ophthalmology and Vision Sciences, and. Division of Gastroenterology and Nutrition, The Hospital for Sick Children, Toronto, ON, Canada; and. McLaughlin Centre and. Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, ON, Canada. .
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10: Title: DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
Authors: Tummala, Hemanth, et.al. .
Journal: American journal of human genetics (Am J Hum Genet), Vol. 99 (1): 115-24, 2016 .
Snippet: DNAJC21 deficiency resulted in cytoplasmic accumulation of the 60S nuclear export factor PA2G4, aberrant ribosome profiles, and increased cell death.
Affiliation: Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK. Clinical and Laboratory Haematology, Birmingham Children's Hospital, Birmingham B4 6NH, UK. Blood and Marrow Transplant Unit, Royal Manchester Children's Hospital, Manchester M13 9WL, UK. Pediatric Hematology, Hôpital Robert-Debré, APHP, Paris 75019, France. Barts Cancer Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK. Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK. UCL Cancer Institute, 72 Huntley Street, London WC1E 6DD, UK. UCL Genetics Institute, Gower Place, London WC1E 6DD, UK. Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK. Electronic address: t.vulliamy@qmul.ac.uk. .
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11: Title: Altered Function of the DnaJ Family Cochaperone DNJ-17 Modulates Locomotor Circuit Activity in a Caenorhabditis elegans Seizure Model.
Authors: Takayanagi-Kiya, Seika, et.al. .
Journal: G3 (Bethesda, Md.) (G3 (bethesda)), Vol. 6 (7): 2165-71, 2016 .
Snippet: The highly conserved cochaperone DnaJ/Hsp40 family proteins are known to interact with molecular chaperone Hsp70, and can regulate many cellular processes including protein folding, translocation, and degradation.
Affiliation: Section of Neurobiology, Division of Biological Sciences, University of California, San Diego, La Jolla, California, 92093. Section of Neurobiology, Division of Biological Sciences, University of California, San Diego, La Jolla, California, 92093 Howard Hughes Medical Institute, University of California, San Diego, La Jolla, California, 92093 yijin@ucsd.edu. .
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12: Title: The diversity of the DnaJ/Hsp40 family, the crucial partners for Hsp70 chaperones.
Authors: Qiu, X-B, et.al. .
Journal: Cellular and molecular life sciences : CMLS (Cell Mol Life Sci), Vol. 63 (22): 2560-70, 2006 .
Snippet: DnaJA2b, DnaJB1b, DnaJC2, DnaJC20, and DnaJC21 are named for the first time in this review; all other human DnaJ proteins were dubbed according to their gene names, e.g.
Affiliation: State Key Laboratory of Medical Molecular Biology, Department of Biochemistry and Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, PR China. xqiu@ibms.pumc.edu.cn .
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