تقرير
Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN .
| العنوان: | Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN . |
|---|---|
| المؤلفون: | Magoulas PL; Texas Children's Hospital, Houston, TX.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Shchelochkov OA; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Bainbridge MN; Rady Children's Institute for Genomic Medicine, San Diego, CA., Ben-Shachar S; Genetics Institute, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Yatsenko S; Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine.; Department of Pathology, School of Medicine, and.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA., Potocki L; Texas Children's Hospital, Houston, TX.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Ophthalmology, Baylor College of Medicine, Houston, TX., Searby C; University of Iowa, Iowa City, IA., Marcogliese AN; Texas Children's Hospital, Houston, TX.; Department of Pathology and Immunology and.; Section of Hematology and Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Elghetany MT; Texas Children's Hospital, Houston, TX.; Department of Pathology and Immunology and.; Section of Hematology and Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Zapata G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; US Department of Agriculture/Agricultural Research Service Children's Nutrition Research Center, Section of Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Hernández PP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; US Department of Agriculture/Agricultural Research Service Children's Nutrition Research Center, Section of Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Gadkari M; Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Einhaus D; Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Muzny DM; The Human Genome Sequencing Center and., Gibbs RA; The Human Genome Sequencing Center and., Bertuch AA; Texas Children's Hospital, Houston, TX.; Section of Hematology and Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Scott DA; Texas Children's Hospital, Houston, TX.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX; and., Corvera S; Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA., Franco LM; Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD. |
| المصدر: | Blood [Blood] 2018 Aug 09; Vol. 132 (6), pp. 658-662. Date of Electronic Publication: 2018 May 21. |
| نوع المنشور: | Case Reports; Letter; Research Support, N.I.H., Intramural |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2021- : [New York] : Elsevier Original Publication: New York, Grune & Stratton [etc.] |
| مواضيع طبية MeSH: | Primary Myelofibrosis/*genetics , Vesicular Transport Proteins/*deficiency, Abnormalities, Multiple/genetics ; Bone Marrow Transplantation ; Child ; Consanguinity ; Fatal Outcome ; Female ; Gonadal Dysgenesis, 46,XY/genetics ; Hematopoietic Stem Cell Transplantation ; Humans ; Infant ; Intellectual Disability/genetics ; Male ; Pedigree ; Phenotype ; Primary Myelofibrosis/congenital ; Primary Myelofibrosis/therapy ; Syndrome ; Vesicular Transport Proteins/genetics ; Vesicular Transport Proteins/physiology |
| التعليقات: | Comment in: Blood. 2018 Aug 9;132(6):557-558. (PMID: 30093384) |
| References: | Blood. 2013 Jun 20;121(25):5078-87. (PMID: 23599270) Development. 2008 Mar;135(6):1107-17. (PMID: 18272590) Cell. 2005 Sep 9;122(5):751-62. (PMID: 16143106) Proc Natl Acad Sci U S A. 2012 Feb 21;109(8):E471-80. (PMID: 22308388) Am J Med Genet A. 2015 Dec;167A(12):3214-8. (PMID: 26358756) N Engl J Med. 2013 Jul 4;369(1):54-65. (PMID: 23738510) J Cell Biol. 2000 Oct 30;151(3):601-12. (PMID: 11062261) Orphanet J Rare Dis. 2014 Sep 20;9:141. (PMID: 25233840) Pediatr Blood Cancer. 2017 Sep;64(9):null. (PMID: 28453180) Mol Biol Cell. 2004 May;15(5):2410-22. (PMID: 15020713) |
| معلومات مُعتمدة: | R01 DK089101 United States DK NIDDK NIH HHS |
| المشرفين على المادة: | 0 (RBSN protein, human) 0 (Vesicular Transport Proteins) |
| تواريخ الأحداث: | Date Created: 20180523 Date Completed: 20190715 Latest Revision: 20240309 |
| رمز التحديث: | 20240309 |
| مُعرف محوري في PubMed: | PMC6085991 |
| DOI: | 10.1182/blood-2017-12-824433 |
| PMID: | 29784638 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1528-0020 |
|---|---|
| DOI: | 10.1182/blood-2017-12-824433 |