Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Julia Kowalczyk"'
Autor:
Jürgen Klammt, David Neumann, Evelien F. Gevers, Shayne F. Andrew, I. David Schwartz, Denise Rockstroh, Roberto Colombo, Marco A. Sanchez, Doris Vokurkova, Julia Kowalczyk, Louise A. Metherell, Ron G. Rosenfeld, Roland Pfäffle, Mehul T. Dattani, Andrew Dauber, Vivian Hwa
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
Severe growth hormone insensitivity syndrome (GHIS) with immunodeficiency is caused by autosomal recessive mutations in STAT5B. Here the authors report heterozygous STAT5B mutations with dominant-negative effects, causing mild GHIS without immune def
Externí odkaz:
https://doaj.org/article/2f6935ea40d3432bb5ef0a1b2cc1c995
Autor:
Andrew Dauber, Denise Rockstroh, Marco A. Sanchez, Vivian Hwa, I. David Schwartz, Roland Pfäffle, Doris Vokurková, David Neumann, Evelien F. Gevers, Louise A. Metherell, Mehul T Dattani, Jürgen Klammt, Ron G. Rosenfeld, Julia Kowalczyk, Shayne Andrew, Roberto Colombo
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
Nature Communications
Nature Communications
Growth hormone (GH) insensitivity syndrome (GHIS) is a rare clinical condition in which production of insulin-like growth factor 1 is blunted and, consequently, postnatal growth impaired. Autosomal-recessive mutations in signal transducer and activat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9212aa853ec129246b8b07b863f1b8ed
https://doaj.org/article/2f6935ea40d3432bb5ef0a1b2cc1c995
https://doaj.org/article/2f6935ea40d3432bb5ef0a1b2cc1c995
Autor:
Louise A. Metherell, Rathi Prasad, Martin O. Savage, Nisha Nathwani, Helen L Storr, Catherine Peters, Li F. Chan, Claire Hughes, Juan Pablo Kaski, Adrian J. L. Clark, Julia Kowalczyk
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
Context: Classic ACTH resistance, due to disruption of ACTH signaling, accounts for the majority of cases of familial glucocorticoid deficiency (FGD). Recently FGD cases caused by mutations in the mitochondrial antioxidant, nicotinamide nucleotide tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b8f2b4948343c083cad1d646ce9f441
https://doi.org/10.1210/jc.2013-3844
https://doi.org/10.1210/jc.2013-3844
Publikováno v:
Hormone Research in Paediatrics. 81:422-427
Background: Mutations of the IGFALS gene have been reported since 2004 in 24 patients, but only 5 of these are females. Case Report: We describe a 14.7-year-old female of a consanguineous Moroccan family with growth retardation and normal-onset but s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e3ff41e3d6725539823e2f252fe721cd
https://doi.org/10.1159/000358329
https://doi.org/10.1159/000358329
Autor:
Ghaniya Daar, Julia Kowalczyk, Barbara Wolters, A. Fretzayas, S.G. Kant, Christian L. Roth, Anke Hinney, C. Halsey, Şükrü Hatun, V. Guarnotta, Sibel Kalaça, H. McDevitt, Thomas Reinehr, C. Giordano, A. Papadimitriou, Sümeyye Ercan, D.T. Papadimitriou, A. Papadopoulou, Lou Metherell, Thekla Poukoulidou, D. Haring, Marc Maes, Stine Linding Andersen, A. Ciresi, Satz Mengensatzproduktion, Selim Kurtoglu, Aydin Erdemir, Capan Konca, Yuksel Pehlevan, Aysegul Yuksel, Osman Baştuğ, Zelal Kahramaner, Faruk Hadziselimovic, Şenol Köroğlu, Werner Druck Medien Ag, Sedat Yilmaz, Peter Laurberg, Ferhan Elmali, H.J. van der Kamp, Mehmet Tekin, Abdullah Arpaci, A.C.J. Gijsbers, M.C. Amato, Elif Ozsu, Jean De Schepper, N. El-Fakhri, Ali Yikilmaz, Gül Yeşiltepe Mutlu, W. Oostdijk, S.F. Ahmed, Mehmet Turgut, C. Marakaki, M.G. Shaikh, Mehmet Bülbül, C.A.L. Ruivenkamp, Filiz Mine Çizmecioğlu
Publikováno v:
Hormone Research in Paediatrics. 81:I-VI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f8e44cb406e0fa138a7b60c63b344fb
https://doi.org/10.1159/000364802
https://doi.org/10.1159/000364802
Autor:
J. Paul Chapple, Leonardo Guasti, Julia Kowalczyk, Louise A. Metherell, Adrian J. L. Clark, Li F. Chan, Eirini Meimaridou, Claire Hughes, Peter J. King
Publikováno v:
Molecular and Cellular Endocrinology. 371:195-200
Familial Glucocorticoid deficiency (FGD), in which the adrenal cortex fails to produce glucocorticoids, was first shown to be caused by defects in the receptor for ACTH (MC2R) or its accessory protein (MRAP). Certain mutations in the steroidogenic ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56eb15398e6efa446ffcdb8677cc3671
https://doi.org/10.1016/j.mce.2012.12.010
https://doi.org/10.1016/j.mce.2012.12.010
Autor:
Christof, Constantin1 (AUTHOR) christof@ma.tum.de, Kowalczyk, Julia1 (AUTHOR)
Publikováno v:
Constructive Approximation. Oct2024, Vol. 60 Issue 2, p197-224. 28p.
Autor:
Shayne Andrew, Evelien Pease-Gevers, Mehul Dattani, Julia Kowalczyk, Lou Metherell, Vivian Hwa, David Neumann, Jurgen Klammt
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::53daa8dcae880fdad09500c103fabd81
https://doi.org/10.1530/endoabs.39.oc5.3
https://doi.org/10.1530/endoabs.39.oc5.3
Publikováno v:
European journal of endocrinology. 172(2)
Objective and designGH insensitivity (GHI) encompasses growth failure, low serum IGF1 and normal/elevated serum GH. By contrast, IGF1 insensitivity results in pre- and postnatal growth failure associated with relatively high IGF1 levels. From 2008 to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac5e425fa143a0d8e6f957ca62f78459
https://pubmed.ncbi.nlm.nih.gov/25411237
https://pubmed.ncbi.nlm.nih.gov/25411237
Publikováno v:
eLS
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterised by isolated glucocorticoid deficiency and resistance of the adrenal cortex to adrenocorticotropic hormone (ACTH) action. Technological advances in genetics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e76f405e04126683d2c6cd71e03c1325
https://doi.org/10.1002/9780470015902.a0025368
https://doi.org/10.1002/9780470015902.a0025368