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Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hülskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A. Zenker M, et al. Among authors: winterpacht a. Nat Genet. 2005 Dec;37(12):1345-50. doi: 10.1038/ng1681. Epub 2005 Nov 20. Nat Genet. 2005. PMID: 16311597
A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.
Zenker M, Rauch A, Winterpacht A, Tagariello A, Kraus C, Rupprecht T, Sticht H, Reis A. Zenker M, et al. Among authors: winterpacht a. Am J Hum Genet. 2004 Apr;74(4):731-7. doi: 10.1086/383094. Epub 2004 Feb 25. Am J Hum Genet. 2004. PMID: 14988809 Free PMC article.
Single-cell RNA sequencing of adult mouse testes.
Lukassen S, Bosch E, Ekici AB, Winterpacht A. Lukassen S, et al. Among authors: winterpacht a. Sci Data. 2018 Sep 11;5:180192. doi: 10.1038/sdata.2018.192. Sci Data. 2018. PMID: 30204153 Free PMC article.
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.
Grosch M, Grüner B, Spranger S, Stütz AM, Rausch T, Korbel JO, Seelow D, Nürnberg P, Sticht H, Lausch E, Zabel B, Winterpacht A, Tagariello A. Grosch M, et al. Among authors: winterpacht a. Matrix Biol. 2013 Oct-Nov;32(7-8):387-92. doi: 10.1016/j.matbio.2013.05.001. Epub 2013 May 9. Matrix Biol. 2013. PMID: 23665482
Selenoprotein M is expressed during bone development.
Grosch M, Fuchs J, Bösl M, Winterpacht A, Tagariello A. Grosch M, et al. Among authors: winterpacht a. EXCLI J. 2013 Nov 20;12:967-79. eCollection 2013. EXCLI J. 2013. PMID: 27298612 Free PMC article.
Expression profiling of human fetal growth plate cartilage by EST sequencing.
Tagariello A, Schlaubitz S, Hankeln T, Mohrmann G, Stelzer C, Schweizer A, Hermanns P, Lee B, Schmidt ER, Winterpacht A, Zabel B. Tagariello A, et al. Among authors: winterpacht a. Matrix Biol. 2005 Dec;24(8):530-8. doi: 10.1016/j.matbio.2005.08.002. Epub 2005 Sep 19. Matrix Biol. 2005. PMID: 16176871
91 results