Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Ulrike Botschen"'
Autor:
Yvonne Nitschke, Kristina Kintzinger, Mary Hackbarth, Ulrike Botschen, Sisi Wang, Rachel Gafni, Kerstin Mueller, Gus Khursigara, William Gahl, Frank Rutsch, Carlos Ferreira
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100704- (2020)
Externí odkaz:
https://doaj.org/article/5f46dd15912e4ecea4519e09f775f289
Autor:
Rachel I Gafni, Eric Yuen, Dirk Schnabel, M Zulf Mughal, Kristina Kintzinger, Carlos Ferreira, Qing Liu, Mary E. Hackbarth, Geneviève Baujat, Gus Khursigara, Pedro Huertas, Ulrike Botschen, Yvonne Nitschke, Frank Rutsch, William A. Gahl
Publikováno v:
Journal of Bone and Mineral Research. 36:2193-2202
Generalized arterial calcification of infancy (GACI) is a rare disorder caused by ENPP1 or ABCC6 variants. GACI is characterized by low pyrophosphate, arterial calcification, and high mortality during the first year of life, but the natural course an
Autor:
Stephanie A. Mercurio, Lauren M. Chunn, Gus Khursigara, Catherine Nester, Kathleen Wray, Ulrike Botschen, Mark J. Kiel, Frank Rutsch, Carlos R. Ferreira
Publikováno v:
Human mutationREFERENCES. 43(12)
Loss-of-function variants in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) cause ENPP1 Deficiency, a rare disorder characterized by pathological calcification, neointimal proliferation, and impaired bone mineralization.
Autor:
William A. Gahl, Mary E. Hackbarth, Ulrike Botschen, Kristina Kintzinger, Sisi Wang, Yvonne Nitschke, Kerstin Mueller, Gus Khursigara, Rachel I Gafni, Carlos Ferreira, Frank Rutsch
Publikováno v:
Bone Reports, Vol 13, Iss, Pp 100704-(2020)
Autor:
Justin H Davies, Geneviève Baujat, Samuel J. Garber, Stephen G. Kahler, Olivier Roche, Smail Hadj-Rabia, Jacqueline Stella, Martine Le Merrer, Rashmi Chikarmane, Karen J. Loechner, Wendy E. Smith, Loreto Martorell, Tatevik Shahinyan, Marie-Frederique Tazarourte-Pinturier, Robert Terkeltaub, Elizabeth Wraige, Tanja Wittkampf, Charu Deshpande, Wolfgang Höhne, Lourdes Loidi, Yvonne Nitschke, Ilse Feenstra, Frank Rutsch, Beat Steinmann, Ludovic Martin, Ulrike Botschen, Guest G, K Lambot, Nicolas Chassaing, Marcel du Moulin, Mignon McCulloch
Publikováno v:
American Journal of Human Genetics, 90, 25-39
American Journal of Human Genetics, 90, 1, pp. 25-39
American Journal of Human Genetics, 90, 1, pp. 25-39
Item does not contain fulltext Spontaneous pathologic arterial calcifications in childhood can occur in generalized arterial calcification of infancy (GACI) or in pseudoxanthoma elasticum (PXE). GACI is associated with biallelic mutations in ENPP1 in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::106f9b29f5ee28f1acadd2e4fd42cd8a
https://doi.org/10.5167/uzh-73740
https://doi.org/10.5167/uzh-73740
Autor:
Tchernychev, Boris1 (AUTHOR) boris.tchernychev@inozyme.com, Nitschke, Yvonne2,3 (AUTHOR) yvonne.nitschke@ukmuenster.de, Chu, Di1 (AUTHOR) di.chu@inozyme.com, Sullivan, Caitlin1 (AUTHOR) caitlin.sullivan@inozyme.com, Flaman, Lisa1 (AUTHOR) lisa.flaman@inozyme.com, O'Brien, Kevin1 (AUTHOR) kevin.obrien@inozyme.com, Howe, Jennifer1 (AUTHOR) jennifer.howe@inozyme.com, Cheng, Zhiliang1 (AUTHOR) zlcheng2012@yahoo.com, Thompson, David1 (AUTHOR) david.thompson@inozyme.com, Ortiz, Daniel1 (AUTHOR) daniel.ortiz@inozyme.com, Rutsch, Frank2,3 (AUTHOR) frank.rutsch@ukmuenster.de, Sabbagh, Yves1 (AUTHOR) yves.sabbagh@inozyme.com
Publikováno v:
Cells (2073-4409). Jul2024, Vol. 13 Issue 13, p1128. 16p.
Autor:
Feldmann, Anja1,2 (AUTHOR) anjafeldmann22@gmx.de, Nitschke, Yvonne1,2 (AUTHOR) sina.stuecker@med.ovgu.de, Linß, Franziska2,3 (AUTHOR) dennis.mulac@uni-muenster.de, Mulac, Dennis3 (AUTHOR) k.langer@uni-muenster.de, Stücker, Sina2,4 (AUTHOR), Bertrand, Jessica2,4 (AUTHOR), Buers, Insa1,2 (AUTHOR) insa.buers@ukmuenster.de, Langer, Klaus3 (AUTHOR), Rutsch, Frank1,2 (AUTHOR) frank.rutsch@ukmuenster.de
Publikováno v:
International Journal of Molecular Sciences. Nov2023, Vol. 24 Issue 22, p16471. 16p.
Autor:
Suntharesan, Jananie, Agarwal, Umber, Lim, Joyce, Collingwood, Catherine, Avula, Shivaram, Mughal, M. Zulf, Nitschke, Yvonne, Botschen, Ulrike, Rutsch, Frank, Ramakrishnan, Renuka
Publikováno v:
Calcified Tissue International; Dec2022, Vol. 111 Issue 6, p646-652, 7p
Autor:
Mercurio, Stephanie A., Chunn, Lauren M., Khursigara, Gus, Nester, Catherine, Wray, Kathleen, Botschen, Ulrike, Kiel, Mark J., Rutsch, Frank, Ferreira, Carlos R.
Publikováno v:
Human Mutation; Dec2022, Vol. 43 Issue 12, p1673-1705, 33p
Publikováno v:
Journal of Clinical Endocrinology & Metabolism; Jan2022, Vol. 107 Issue 1, p109-118, 10p