Zobrazeno 1 - 10
of 146
pro vyhledávání: '"Nadja Fratzl-Zelman"'
Autor:
Barbara Voraberger, Johannes A. Mayr, Nadja Fratzl-Zelman, Stéphane Blouin, Suma Uday, Robert Kopajtich, Marijke Koedam, Helena Hödlmayr, Saskia B. Wortmann, Bernhard Csillag, Holger Prokisch, Bram C. J. van der Eerden, Ahmed El-Gazzar, Wolfgang Högler
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Bi-allelic variants in ASCC1 cause the ultrarare bone fragility disorder “spinal muscular atrophy with congenital bone fractures-2” (SMABF2). However, the mechanism by which ASCC1 dysfunction leads to this musculoskeletal condition and the nature
Externí odkaz:
https://doaj.org/article/4a17473717f247b2b3e96b896af55a6c
Autor:
Ahmed El‐Gazzar, Barbara Voraberger, Frank Rauch, Mario Mairhofer, Katy Schmidt, Brecht Guillemyn, Goran Mitulović, Veronika Reiterer, Margot Haun, Michaela M Mayr, Johannes A Mayr, Susanne Kimeswenger, Oliver Drews, Vrinda Saraff, Nick Shaw, Nadja Fratzl‐Zelman, Sofie Symoens, Hesso Farhan, Wolfgang Högler
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 4, Pp n/a-n/a (2023)
Abstract Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder characterized by bone fragility and reduced bone mass generally caused by defects in type I collagen structure or defects in proteins interacting with collag
Externí odkaz:
https://doaj.org/article/603d086eb1764c1e9cd37e1a82cb581f
Autor:
Julian C. Lui, Adalbert Raimann, Hironori Hojo, Lijin Dong, Paul Roschger, Bijal Kikani, Uwe Wintergerst, Nadja Fratzl-Zelman, Youn Hee Jee, Gabriele Haeusler, Jeffrey Baron
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
SP7 is a transcription factor required for osteoblast differentiation and bone formation. A neomorphic mutation in SP7 was found to alter DNA binding specificity, causing a complex skeletal disorder in both mice and humans.
Externí odkaz:
https://doaj.org/article/b7d215b65ff747e8abe71813c3201ff6
Autor:
Ahmed El-Gazzar, Heeseog Kang, Nadja Fratzl-Zelman, Emma Webb, Aileen M. Barnes, Milena Jovanovic, Sarju G. Mehta, Vipan Datta, Vrinda Saraff, Ryan K. Dale, Frank Rauch, Joan C. Marini, Wolfgang Högler
Publikováno v:
Bone Reports, Vol 17, Iss , Pp 101603- (2022)
Loss-of-function mutations in SMAD3 cause Loeys-Dietz syndrome type 3 (LDS3), a rare autosomal-dominant connective tissue disorder characterized by vascular pathology and skeletal abnormalities. Dysregulation of TGF-β/SMAD signaling is associated wi
Externí odkaz:
https://doaj.org/article/1f68113aa43d49cb8cfd80c68511f175
Autor:
Ahmed El-Gazzar, Johannes A. Mayr, Barbara Voraberger, Karin Brugger, Stéphane Blouin, Katharina Tischlinger, Hans-Christoph Duba, Holger Prokisch, Nadja Fratzl-Zelman, Wolfgang Högler
Publikováno v:
Bone Reports, Vol 15, Iss , Pp 101110- (2021)
Osteogenesis imperfecta (OI) is an inherited genetic disorder characterized by frequent bone fractures and reduced bone mass. Most cases of OI are caused by dominantly inherited heterozygous mutations in one of the two genes encoding type I collagen,
Externí odkaz:
https://doaj.org/article/bdb0050b07464f549760c469b26f4bb0
Autor:
Riikka E. Mäkitie, Stéphane Blouin, Ville‐Valtteri Välimäki, Sandra Pihlström, Kirsi Määttä, Minna Pekkinen, Nadja Fratzl‐Zelman, Outi Mäkitie, Markus A. Hartmann
Publikováno v:
JBMR Plus, Vol 5, Iss 11, Pp n/a-n/a (2021)
Abstract Pathological variants in SGMS2, encoding sphingomyelin synthase 2 (SMS2), result in a rare autosomal dominant skeletal disorder with cranial doughnut lesions. The disease manifests as early‐onset osteoporosis or a more severe skeletal dysp
Externí odkaz:
https://doaj.org/article/acebc817b0f14b70aa54dc378913b30f
Autor:
Benjamin Hadzimuratovic, Judith Haschka, Markus A Hartmann, Stéphane Blouin, Nadja Fratzl‐Zelman, Jochen Zwerina, Roland Kocijan
Publikováno v:
JBMR Plus, Vol 5, Iss 6, Pp n/a-n/a (2021)
ABSTRACT Tenofovir is a nucleotide analog reverse‐transcriptase inhibitor (NtARTI) used for treatment of chronic hepatitis B and human immunodeficiency virus (HIV). Fanconi syndrome (FS) is a condition affecting the proximal tubules of the kidney,
Externí odkaz:
https://doaj.org/article/2a4b1b40583641ad878deda67581bd4c
Autor:
Gali Guterman-Ram, Ghazal Hedjazi, Chris Stephan, Stéphane Blouin, Jochen Zwerina, Kenneth M. Kozloff, Nadja Fratzl-Zelman, Joan C. Marini
Publikováno v:
Bone Reports, Vol 14, Iss , Pp 100805- (2021)
Externí odkaz:
https://doaj.org/article/a45a9a8a355d4c069d4e835dad533cbf
Autor:
Ghazal Hedjazi, Gali Guterman-Ram, Stéphane Blouin, Markus A. Hartmann, Victoria Schemenz, Wolfgang Wagermaier, Peter Fratzl, Jochen Zwerina, Nadja Fratzl-Zelman, Joan C. Marini
Publikováno v:
Bone Reports, Vol 14, Iss , Pp 100806- (2021)
Externí odkaz:
https://doaj.org/article/e51114a5e5d746f1a7e3ff69b6106ae3
Publikováno v:
Bone Reports, Vol 14, Iss , Pp 101005- (2021)
Externí odkaz:
https://doaj.org/article/e63981444f6f4a4cbaf4dd5a72570595