Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.

Autor: Venugopal P; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Arts P; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Fox LC; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.; Clinical Haematology at Peter MacCallum Cancer Centre and The Royal Melbourne Hospital, Melbourne, VIC, Australia.; Faculty of Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, VIC, Australia., Simons A; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Oncology, Radboud University Medical Center, Nijmegen, The Netherlands., Hiwase DK; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; Royal Adelaide Hospital, Central Adelaide Local Health Network, Adelaide, SA, Australia.; Precision Medicine Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia., Bardy PG; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; Department of Clinical Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, Adelaide, SA, Australia., Swift A; Department of Paediatric Haematology, Queensland Children's Hospital, South Brisbane, QLD, Australia., Ross DM; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Precision Medicine Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia.; Department of Clinical Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, Adelaide, SA, Australia.; Department of Haematology, Flinders Medical Centre, Adelaide, SA, Australia., van Vulpen LFD; Center for Benign Haematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Buijs A; Department of Genetics, University Medical Center, Utrecht, The Netherlands., Bolton KL; Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO., Getta B; Department of Haematology, Liverpool Hospital, Liverpool, NSW, Australia., Furlong E; Department of Clinical Haematology, Oncology, Blood and Marrow Transplantation, Perth Children's Hospital, Perth, WA, Australia., Carter T; Department of Clinical Haematology, Oncology, Blood and Marrow Transplantation, Perth Children's Hospital, Perth, WA, Australia., Krapels I; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Hoeks M; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands., Al Kindy A; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital and Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman., Al Kindy F; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital and Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman., de Munnik S; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Evans P; Children's Health Ireland at Crumlin, Dublin, Ireland., Frank MSB; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia., Bournazos AM; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, Australia.; The Children's Medical Research Institute, Westmead, NSW, Australia., Cooper ST; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, Australia.; The Children's Medical Research Institute, Westmead, NSW, Australia.; School of Medicine, Faculty of Health and Medicine, The University of Sydney, Sydney, NSW, Australia., Ha TT; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia., Jackson MR; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Australian Genomics, Parkville, VIC, Australia., Arriola-Martinez L; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia., Phillips K; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia., Brennan Y; Royal Adelaide Hospital, Central Adelaide Local Health Network, Adelaide, SA, Australia., Bakshi M; Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia., Ambler K; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Gao S; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Kassahn KS; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Kenyon R; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia., Hung K; Royal Adelaide Hospital, Central Adelaide Local Health Network, Adelaide, SA, Australia., Babic M; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., McGovern A; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Rawlings L; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Vakulin C; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Dejong L; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Fathi R; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., McRae S; Western Haematology and Oncology Clinics, West Perth, WA, Australia., Myles N; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; Department of Clinical Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, Adelaide, SA, Australia., Ladon D; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Jongmans M; Department of Genetics, University Medical Center, Utrecht, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Kuiper RP; Department of Genetics, University Medical Center, Utrecht, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Poplawski NK; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia., Barbaro P; Department of Paediatric Haematology, Queensland Children's Hospital, South Brisbane, QLD, Australia., Blombery P; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.; Clinical Haematology at Peter MacCallum Cancer Centre and The Royal Melbourne Hospital, Melbourne, VIC, Australia.; Faculty of Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, VIC, Australia., Brown AL; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Hahn CN; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Scott HS; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.

Publikováno v: Blood advances [Blood Adv] 2024 Jul 09; Vol. 8 (13), pp. 3437-3443.

Effectiveness of aortic valve replacement in Heyde syndrome: a meta-analysis.

Autor: Goltstein LCMJ; Department of Gastroenterology and Hepatology, Radboud University Medical Center, Geert Grooteplein Zuid 10, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Rooijakkers MJP; Department of Cardiology, Radboud University Medical Center, Geert Grooteplein Zuid 10, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Hoeks M; Department of Haematology, Radboud University Medical Center, Geert Grooteplein Zuid 10, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Li WWL; Department of Cardiothoracic Surgery, Radboud University Medical Center, Geert Grooteplein Zuid 10, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., van Wely MH; Department of Cardiology, Radboud University Medical Center, Geert Grooteplein Zuid 10, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Rodwell L; Department of Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Section Biostatistics, Geert Grooteplein Zuid 10, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., van Royen N; Department of Cardiology, Radboud University Medical Center, Geert Grooteplein Zuid 10, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Drenth JPH; Department of Gastroenterology and Hepatology, Radboud University Medical Center, Geert Grooteplein Zuid 10, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., van Geenen EM; Department of Gastroenterology and Hepatology, Radboud University Medical Center, Geert Grooteplein Zuid 10, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

Publikováno v: European heart journal [Eur Heart J] 2023 Sep 01; Vol. 44 (33), pp. 3168-3177.

Specific proteome changes in platelets from individuals with GATA1-, GFI1B-, and RUNX1-linked bleeding disorders

Autor: Van Bergen, M G J M, Marneth, A E, Hoogendijk, A J, Van Alphen, F P J, Van den Akker, E, Laros-Van Gorkom, B A P, Hoeks, M, Simons, A, De Munnik, S A, Janssen, J J W M, Martens, J H A, Jansen, J H, Meijer, A B, Van der Reijden, B A

Mutations in the transcription factors GATA binding factor 1 (GATA1), growth factor independence 1B (GFI1B), and Runt-related transcription factor 1 (RUNX1) cause familial platelet and bleeding disorders. Mutant platelets exhibit common abnormalities

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6f76676a60b4c51119a4b0a6a5d7311f
https://dspace.library.uu.nl/handle/1874/418314

Improving a Rare Metabolic Disorder Through Kidney Transplantation: A Case Report of a Patient With Lysinuric Protein Intolerance.

Autor: IJzermans T; Departments of Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: ties.ijzermans@radboudumc.nl., van der Meijden W; Departments of Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands., Hoeks M; Haematology, Radboud University Medical Center, Nijmegen, The Netherlands., Huigen M; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Rennings A; Haematology and Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Nijenhuis T; Departments of Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands.

Publikováno v: American journal of kidney diseases : the official journal of the National Kidney Foundation [Am J Kidney Dis] 2023 Apr; Vol. 81 (4), pp. 493-496. Date of Electronic Publication: 2022 Oct 09.

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