Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Cecile Julier"'
Autor:
Isidora Vagianou, Panagiota Triantafyllou, Cecile Julier, Euthymia Vargiami, Maria Badouraki, Dimitrios I. Zafeiriou
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 27:967-970
Wolcott-Rallison syndrome (WRS) is a very rare genetic disorder, which is transmitted by autosomal recessive inheritance and results from mutations in the gene encoding the eukaryotic initiation factor 2-α kinase-3 (EIF2AK3). The cardinal features o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29a26e358ea8dbbfbf2d26ad84874586
https://doi.org/10.1515/jpem-2013-0469
https://doi.org/10.1515/jpem-2013-0469
Autor:
Sandra Heller, Zhijian Li, Qiong Lin, Ryan Geusz, Markus Breunig, Meike Hohwieler, Xi Zhang, Gopika G. Nair, Thomas Seufferlein, Matthias Hebrok, Maike Sander, Cécile Julier, Alexander Kleger, Ivan G. Costa
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-12 (2021)
Heller et al analyze transcriptomic and epigenetic datasets from human PSCs differentiating into pancreatic progenitors to elucidate the regulatory mechanisms behind pancreatic development. The authors report that the transcription factor ONECUT1 is
Externí odkaz:
https://doaj.org/article/4622ff7d00c840df9df59d2628589a8c
Autor:
Xandra O. Breakefield, Cecile Julier, Wei-Lang Yan, Jonathan L. Haines, James F. Gusella, Rose-Mary Boustany, Ann F. Jewell
Publikováno v:
American Journal of Medical Genetics. 42:542-545
Neuronal ceroid lipofuscinosis (NCL, Batten disease) is an autosomal recessive disease characterized by progressive mental retardation, cortical atrophy, seizures, and retinal degeneration. Several subtypes have been delineated on the basis of age-at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a811e2d25c3d9ee9f19ab1eb291d9ab7
https://doi.org/10.1002/ajmg.1320420424
https://doi.org/10.1002/ajmg.1320420424
Autor:
Patrick, Concannon, Henry A, Erlich, Cecile, Julier, Grant, Morahan, Jørn, Nerup, Flemming, Pociot, John A, Todd, Stephen S, Rich
Publikováno v:
Diabetes. 54(10)
Type 1 diabetes is a common, multifactorial disease with strong familial clustering (genetic risk ratio [lambda(S)] approximately 15). Approximately 40% of the familial aggregation of type 1 diabetes can be attributed to allelic variation of HLA loci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cad8c71306d65ca10f4bac8321ccaec0
https://pubmed.ncbi.nlm.nih.gov/16186404
https://pubmed.ncbi.nlm.nih.gov/16186404
Autor:
Constantin Ionesco-Tirgoviste, Amanda Wilson, Marilyn E. Merriman, Cecile Julier, John A. Todd, Lorenza Nisticò, Raffaella Buzzetti, Paolo Pozzilli, Eva Tuomilehto-Wolf, Emanuele Bosi, Flemming Pociot, Laura Esposito, C Muxworthy, Marc Delepine, Natasha J. Hill, Maurizio Ferrari, Jørn Nerup, Francesco Cucca, Stephen C. Bain, Jaakko Tuomilehto, L E Pritchard
Publikováno v:
Diabetes. 47(11)
In the spontaneous mouse model of type 1 diabetes, the nonobese (NOD) strain, a type 1 diabetes locus, Idd5 , has been mapped to chromosome 1. Because mouse chromosome 1 shares a homologous 33-cM region between the genes col3a1 and col6a3 with human
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fdea54676ca53e03f3fef5fb5daa422
https://pubmed.ncbi.nlm.nih.gov/9792551
https://pubmed.ncbi.nlm.nih.gov/9792551
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
Diabetes, as one of the major diseases in industrial countries, affects over 350 million people worldwide. Type 1 (T1D) and type 2 diabetes (T2D) are the most common forms with both types having invariable genetic influence. It is accepted that a sub
Externí odkaz:
https://doaj.org/article/fbbf8af2147c451da9ff285baffa98e0
Autor:
Jana Krüger, Markus Breunig, Lino Pascal Pasquini, Mareen Morawe, Alexander Groß, Frank Arnold, Ronan Russell, Thomas Seufferlein, Ninel Azoitei, Hans A. Kestler, Cécile Julier, Sandra Heller, Meike Hohwieler, Alexander Kleger
Publikováno v:
Cells, Vol 11, Iss 3, p 582 (2022)
Human pluripotent stem cells, with their ability to proliferate indefinitely and to differentiate into virtually all cell types of the human body, provide a novel resource to study human development and to implement relevant disease models. Here, we
Externí odkaz:
https://doaj.org/article/1da65a977dad492d9334c91e2eea2381
Publikováno v:
Biochemistry. 26:8516-8524
Overlapping molecular clones encoding the complement subcomponent Cls were isolated from a human liver cDNA library. The nucleotide sequence reconstructed from these clones spans about 85% of the length of the liver Cls messenger RNAs, which occur in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a46d6780f5448b30ff9643715bb737ed
https://doi.org/10.1021/bi00400a004
https://doi.org/10.1021/bi00400a004
Autor:
Kjersti S. Rønningen, Holger Luthman, Ingrid Kockum, Regine Bergholdt, Pegah Ghandil, Jesper Johannesen, Flemming Pociot, Jørn Nerup, Cecile Julier, O. P. Kristiansen
Publikováno v:
Scopus-Elsevier
Type 1 (insulin dependent) diabetes mellitus (T1DM) [MIM 222100] is an autoimmune disease with both genetic and environmental components. The HLA region is the major genetic susceptibility region, but in addition several minor susceptibility loci hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daeb9b8bedc2b3f779f6e02f888098aa
http://www.scopus.com/inward/record.url?eid=2-s2.0-2342649514&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-2342649514&partnerID=MN8TOARS
Autor:
Mariana Igoillo-Esteve, Anne Genin, Nelle Lambert, Julie Désir, Isabelle Pirson, Baroj Abdulkarim, Nicolas Simonis, Anais Drielsma, Lorella Marselli, Piero Marchetti, Pierre Vanderhaeghen, Décio L Eizirik, Wim Wuyts, Cécile Julier, Ali J Chakera, Sian Ellard, Andrew T Hattersley, Marc Abramowicz, Miriam Cnop
Publikováno v:
PLoS Genetics, Vol 9, Iss 10, p e1003888 (2013)
We describe a new syndrome of young onset diabetes, short stature and microcephaly with intellectual disability in a large consanguineous family with three affected children. Linkage analysis and whole exome sequencing were used to identify the causa
Externí odkaz:
https://doaj.org/article/e03ab59fc8c94e0bb421e36e2f753016