PMC Links for Protein (Select 28269693) - PMC - NCBI

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Items: 5

Select item 63235521.

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

Amy J. LaCroix, Deborah Stabley, Rebecca Sahraoui, Margaret P. Adam, Michele Mehaffey, Kelly Kernan, Candace T. Myers, Carrie Fagerstrom, George Anadiotis, Yassmine M. Akkari, Katherine M. Robbins, Karen W. Gripp, Wagner A.R. Baratela, Michael B. Bober, Angela L. Duker, Dan Doherty, Jennifer C. Dempsey, Daniel G. Miller, Martin Kircher, Michael J. Bamshad, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Heather C. Mefford, Katia Sol-Church

Am J Hum Genet. 2019 Jan 3; 104(1): 35–44. Published online 2018 Dec 13. doi: 10.1016/j.ajhg.2018.11.005

PMCID:: PMC6323552

Abstract Article PDF–1.0M

Select item 62907912.

microRNA-29b mediates fibrotic induction of human xylosyltransferase-I in human dermal fibroblasts via the Sp1 pathway

Lara Riedel, Bastian Fischer, Thanh-Diep Ly, Doris Hendig, Joachim Kuhn, Cornelius Knabbe, Isabel Faust

Sci Rep. 2018; 8: 17779. Published online 2018 Dec 12. doi: 10.1038/s41598-018-36217-2

PMCID:: PMC6290791

Abstract Article PDF–1.4M

Select item 59923263.

Structural Basis for the Initiation of Glycosaminoglycan Biosynthesis by Human Xylosyltransferase 1

David C. Briggs, Erhard Hohenester

Structure. 2018 Jun 5; 26(6): 801–809.e3. doi: 10.1016/j.str.2018.03.014

PMCID:: PMC5992326

Abstract Article PDF–2.6M

Select item 25930314.

Polymorphisms in the xylosyltransferase genes cause higher serum XT‐I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course

S Schön, V Schulz, C Prante, D Hendig, C Szliska, J Kuhn, K Kleesiek, C Götting

J Med Genet. 2006 Sep; 43(9): 745–749. Published online 2006 Apr 12. doi: 10.1136/jmg.2006.040972

PMCID:: PMC2593031

Abstract Article PDF–205K

Select item 59197425.

Cell-Type Transcriptomes of the Multicellular Green Alga Volvox carteri Yield Insights into the Evolutionary Origins of Germ and Somatic Differentiation Programs

Gavriel Y. Matt, James G. Umen

G3 (Bethesda) 2018 Feb; 8(2): 531–550. Published online 2017 Dec 5. doi: 10.1534/g3.117.300253

PMCID:: PMC5919742

Abstract Article PDF–2.8M

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