Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Leifur Thorsteinsson"'
Autor:
Bjorg Gudmundsdottir, Kristbjorn O. Gudmundsson, Kimberly D. Klarmann, Satyendra K. Singh, Lei Sun, Shweta Singh, Yang Du, Vincenzo Coppola, Luke Stockwin, Nhu Nguyen, Lino Tessarollo, Leifur Thorsteinsson, Olafur E. Sigurjonsson, Sveinn Gudmundsson, Thorunn Rafnar, John F. Tisdale, Jonathan R. Keller
Publikováno v:
Cell Reports, Vol 23, Iss 11, Pp 3236-3248 (2018)
Summary: Fetal globin genes are transcriptionally silenced during embryogenesis through hemoglobin switching. Strategies to derepress fetal globin expression in the adult could alleviate symptoms in sickle cell disease and β-thalassemia. We identifi
Externí odkaz:
https://doaj.org/article/e0d1e32368d04fa6970dd5594931da2a
Autor:
Shweta Singh, Thorunn Rafnar, Bjorg Gudmundsdottir, Kimberly D. Klarmann, Yang Du, Lei Sun, Vincenzo Coppola, Jonathan R. Keller, Leifur Thorsteinsson, Nhu Nguyen, John F. Tisdale, Lino Tessarollo, Luke H. Stockwin, Kristbjorn O. Gudmundsson, Sveinn Vidar Gudmundsson, Olafur E. Sigurjonsson, Satyendra K. Singh
Publikováno v:
Cell Reports, Vol 23, Iss 11, Pp 3236-3248 (2018)
Cell reports
Cell reports
SUMMARY Fetal globin genes are transcriptionally silenced during embryogenesis through hemoglobin switching. Strategies to derepress fetal globin expression in the adult could alleviate symptoms in sickle cell disease and β-thalassemia. We identifie
Publikováno v:
Clinical Genetics. 36:368-377
Firstly, we review investigations of hereditary cystatin C amyloid angiopathy, which is caused by a mutation in the cystatin C gene. Symptoms of brain haemorrhages, which lead to death in young adults, are the hallmark of this disorder. The mutation
Autor:
Sveinn Vidar Gudmundsson, Thorunn Rafnar, Olafur E. Sigurjonsson, Torstein Egeland, Kristbjorn O. Gudmundsson, Leifur Thorsteinsson, Karl Olafsson, Jonathan R. Keller
Publikováno v:
Stem Cells. 25:1498-1506
Inducible hematopoietic stem/progenitor cell lines represent a model for studying genes involved in self-renewal and differentiation. Here, gene expression was studied in the inducible human CD34+ acute myelogenous leukemia cell line KG1 using oligon
Publikováno v:
Amyloid. 3:110-118
Cystatin C amyloid (ACys) deposition in arteries of the brain is the primary cause of cerebral hemorrhage in hereditary cystatin C amyloid angiopathy (HCCAA). A in us-sense mutation (codon 68; Leu 68 → Gln 68) in the human cystatin C gene renders c
Autor:
Maria Bjarnadottir, Gudmundur Georgsson, Leifur Thorsteinsson, Olafur Jensson, Bjarni Ásgeirsson, Gunnar Gudmundsson, Isleifur Olafsson
Publikováno v:
Journal of the Neurological Sciences. 108:121-128
The pathogenesis of the deposition of a variant cystatin C as amyloid in hereditary cystatin C amyloid angiopathy (HCCAA) is not known. To address this question the synthesis and secretion of cystatin C in cultured monocytes from 9 carriers of the mu
Autor:
Thorarinn Gislason, Eva Halapi, Hakon Hakonarson, Kari Stefansson, Jürgen Laufs, Emilia Soebech, Kristján Jónasson, Leifur Thorsteinsson, Andres Sigvaldason, Jeffrey R. Gulcher, Hjalti Andrason
Publikováno v:
American journal of pharmacogenomics : genomics-related research in drug development and clinical practice. 4(1)
Background: Previous studies of vitamin D binding protein (VDBP, also known as group-specific component, Gc, encoded by the GC gene) have implicated two gene variants, GC*2 and GC*1F, as possible contributors with chronic obstructive pulmonary diseas
Publikováno v:
Cerebral Amyloid Angiopathy in Alzheimer’s Disease and Related Disorders ISBN: 9789048154807
Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disorder causing fatal brain hemorrhages in normotensive young adults. Nucleotide substitution in the gene encoding the cysteine proteinase inhibitor, cystatin C, gives rise to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1e1436ea6f1dfcb15350c22cd0fe64b0
https://doi.org/10.1007/978-94-017-1007-7_7
https://doi.org/10.1007/978-94-017-1007-7_7
Autor:
Erlendur Helgason, Kristbjörn Orri Gudmundsson, Peter Roepstorff, Leifur Thorsteinsson, Sophie Haebel, Gunnar Gudmundsson, Bjarni Ásgeirsson
Publikováno v:
ResearcherID
Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant condition in which the patients suffer at an early age from repeated cerebral haemorrhages. The development of HCCAA is directly linked to a Leu-68 → Gln (L68Q) mutation in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9478838a23d81c843d4b418371ff047
https://publishup.uni-potsdam.de/frontdoor/index/index/docId/22846
https://publishup.uni-potsdam.de/frontdoor/index/index/docId/22846
Publikováno v:
APMIS : acta pathologica, microbiologica, et immunologica Scandinavica. 105(1)
Hereditary cystatin C amyloid angiopathy (HCCAA), an autosomal dominant form of cerebral amyloid angiopathy (CAA) occurring primarily in Iceland, is characterized by a variant cystatin C amyloid deposition in the walls of cerebral parenchymal and lep