Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Ellen Markljung"'
Autor:
Johanna Lundin, Ellen Markljung, Izabella Baranowska Körberg, Wolfgang Hofmeister, Jia Cao, Daniel Nilsson, Gundela Holmdahl, Gillian Barker, Magnus Anderberg, Vladana Vukojević, Anna Lindstrand, Agneta Nordenskjöld
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Abstract Background The bladder exstrophy‐epispadias complex (BEEC) is a congenital malformation of the bladder and urethra. The underlying causes of this malformation are still largely unknown; however, aside from environment, genetics is thought
Externí odkaz:
https://doaj.org/article/b1a8ced4172c406cb13c4b3a7225eb0e
Autor:
Ellen Markljung, Lin Jiang, Jacob D Jaffe, Tarjei S Mikkelsen, Ola Wallerman, Martin Larhammar, Xiaolan Zhang, Li Wang, Veronica Saenz-Vash, Andreas Gnirke, Anders M Lindroth, Romain Barrés, Jie Yan, Sara Strömberg, Sachinandan De, Fredrik Pontén, Eric S Lander, Steven A Carr, Juleen R Zierath, Klas Kullander, Claes Wadelius, Kerstin Lindblad-Toh, Göran Andersson, Göran Hjälm, Leif Andersson
Publikováno v:
PLoS Biology, Vol 7, Iss 12, p e1000256 (2009)
A single nucleotide substitution in intron 3 of IGF2 in pigs abrogates a binding site for a repressor and leads to a 3-fold up-regulation of IGF2 in skeletal muscle. The mutation has major effects on muscle growth, size of the heart, and fat depositi
Externí odkaz:
https://doaj.org/article/de9e5045bde1421896199b15ecd03097
Autor:
Anna Lindstrand, Gillian Barker, Agneta Nordenskjöld, Magnus Anderberg, Gundela Holmdahl, Jia Cao, Daniel Nilsson, Vladana Vukojević, Izabella Baranowska Körberg, Johanna Lundin, Wolfgang Hofmeister, Ellen Markljung
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background The bladder exstrophy‐epispadias complex (BEEC) is a congenital malformation of the bladder and urethra. The underlying causes of this malformation are still largely unknown; however, aside from environment, genetics is thought to play a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::405979108ee1ea751ad900afaa716380
https://doi.org/10.1002/mgg3.666
https://doi.org/10.1002/mgg3.666
Autor:
Markus Draaken, Daniel Nilsson, Anna Lindstrand, Vladana Vukojević, Izabella Baranowska Körberg, Johanna Lundin, Gundela Holmdahl, Agneta Nordenskjöld, Christina Clementson Kockum, Michael Ludwig, Gillian Barker, Heiko Reutter, Jia Cao, Ellen Markljung, Wolfgang Hofmeister
Publikováno v:
Human Molecular Genetics. 24:5069-5078
Bladder exstrophy, a severe congenital urological malformation when a child is born with an open urinary bladder, is the most common form of bladder exstrophy-epispadias complex (BEEC) with an incidence of 1:30.000 children of Caucasian descent. Rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc95f33353fcb4b8c4ddb8c0f0dad616
https://doi.org/10.1093/hmg/ddv225
https://doi.org/10.1093/hmg/ddv225
Autor:
Louise Frisén, Ellen Markljung, Jia Cao, Zu Shulu, Cilla Söderhäll, Xufeng Zhang, Loes F.M. van der Zanden, Iris A.L.M. van Rooij, Yougen Chen, Hanh T. T. Thai, Nel Roeleveld, Izabella Baranowska Körberg, Agneta Nordenskjöld, Ingrid Kockum
Publikováno v:
European Journal of Human Genetics, 23, 516-22
European Journal of Human Genetics, 23, 4, pp. 516-22
European Journal of Human Genetics, 23, 4, pp. 516-22
Item does not contain fulltext Hypospadias is a common male genital malformation and is regarded as a complex disease affected by multiple genetic as well as environmental factors. In a previous genome-wide scan for familial hypospadias, we reported
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aad037de4f83457d8a98633b81a56f95
https://hdl.handle.net/2066/155284
https://hdl.handle.net/2066/155284
Autor:
Juleen R. Zierath, Paul B. Siegel, D. Michael Denbow, Leif Andersson, Finn Hallböök, Sojeong Ka, Svante Pääbo, Mohammad Harun-Or-Rashid, Frank W. Albert, Ellen Markljung, Henrik Ring, Pablo M. Garcia-Roves, Per Wahlberg
Publikováno v:
Physiological Genomics
Carnitine palmitoyl-CoA transferase-1B is a mitochondrial enzyme in the fatty acid oxidation pathway. In a previous study, CPT1B was identified as differentially expressed in the hypothalamus of two lines of chickens established by long-term selectio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::420fbea1578bb1d580eac4e6d9b06421
https://doi.org/10.1152/physiolgenomics.00078.2012
https://doi.org/10.1152/physiolgenomics.00078.2012
Autor:
Ellen Markljung, Sylvie Kaiser, Tatjana Adamovic, Hussein Naji, Jia Cao, Tomas Wester, Agneta Nordenskjöld
Publikováno v:
Gene. 507:50-53
The Currarino syndrome (CS) consists of a sacral defect, an anorectal malformation and a pre-sacral mass. It manifests as an autosomal dominant congenital malformation in familial settings, with varying penetrance. The disease-causing gene, Motor neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a6ce0f64a33e7417cb5008a55be609f
https://doi.org/10.1016/j.gene.2012.06.096
https://doi.org/10.1016/j.gene.2012.06.096
Autor:
S. Zhao, Tatjana Adamovic, Yundai Chen, Agneta Nordenskjöld, H.T.T. Thai, Ellen Markljung, Xuelian Zhang
Publikováno v:
Sexual Development. 6:292-297
Hypospadias is a frequent congenital malformation in boys and is characterized by incomplete fusion of the urethral folds. The steroidogenic factor-1 (SF-1, NR5A1) gene plays a key role in hypothalamic-pituitary-steroidogenic organ development, and h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::133c8dc5ebb84e341fc2f71b1afcd5ef
https://doi.org/10.1159/000343782
https://doi.org/10.1159/000343782
Autor:
Merete Fredholm, Å. Josell, Ellen Markljung, Claus Jørgensen, Ann-Charlotte Enfält, Milena Sawera, Camilla S. Bruun, Peter Karlskov-Mortensen, Gunilla Lindahl, Martin H. Braunschweig, Kerstin Lundström, Ingela Hedebro-Velander, G. von Seth, Leif Andersson
Publikováno v:
Animal Genetics. 37:156-162
We report the identification of quantitative trait loci (QTL) affecting carcass composition, carcass length, fat deposition and lean meat content using a genome scan across 462 animals from a combined intercross and backcross between Hampshire and La
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::458ad1858f0c230d73e7e71ca2afa6a8
https://doi.org/10.1111/j.1365-2052.2005.01405.x
https://doi.org/10.1111/j.1365-2052.2005.01405.x
Autor:
Edvard Nordenskjöld, Katharina Fink, Tomas Wester, Daniel Nilsson, Ellen Markljung, Anna Löf Granström, Agneta Nordenskjöld
Publikováno v:
Journal of pediatric surgery. 49(4)
Purpose We identified a girl with Hirschsprung's disease (HSCR) whose mother and grandmother had HSCR associated with multiple sclerosis (MS). The aim of this study was to outline mutations in HSCR-related genes and MS susceptibility alleles in these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e06b2ee6ecd519060d05f749f2efc8e
https://pubmed.ncbi.nlm.nih.gov/24726125
https://pubmed.ncbi.nlm.nih.gov/24726125