PMC Links for Nucleotide (Select 1519313741) - PMC

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Links from Nucleotide

Items: 20

Select item 42148671.

Stephen G. Kaler

Nat Rev Neurol. Author manuscript; available in PMC 2014 Oct 30.

Published in final edited form as: Nat Rev Neurol. 2011 Jan; 7(1): 15–29. doi: 10.1038/nrneurol.2010.180

PMCID:: PMC4214867

Abstract Article PDF–1.7M

Select item 12213202.

Evidence for a Menkes-like protein with a nuclear targeting sequence.

M C Reddy, S Majumdar, E D Harris

Biochem J. 2000 Sep 15; 350(Pt 3): 855–863.

PMCID:: PMC1221320

Summary PDF–261K

Select item 12196633.

Multiple transcripts coding for the menkes gene: evidence for alternative splicing of Menkes mRNA.

M C Reddy, E D Harris

Biochem J. 1998 Aug 15; 334(Pt 1): 71–77. doi: 10.1042/bj3340071

PMCID:: PMC1219663

Summary PDF–577K

Select item 66785394.

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature

Aude Beyens, Kyaran Van Meensel, Lore Pottie, Riet De Rycke, Michiel De Bruyne, Femke Baeke, Piet Hoebeke, Frank Plasschaert, Bart Loeys, Sofie De Schepper, Sofie Symoens, Bert Callewaert

Genes (Basel) 2019 Jul; 10(7): 528. Published online 2019 Jul 12. doi: 10.3390/genes10070528

PMCID:: PMC6678539

Abstract Article PDF–3.3M

Select item 66607005.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz

Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2

PMCID:: PMC6660700

Abstract Article PDF–980K

Select item 50240956.

Diagnostic copper imaging of Menkes disease by synchrotron radiation-generated X-ray fluorescence analysis

Miyuki Kinebuchi, Akihiro Matsuura, Tohru Kiyono, Yumiko Nomura, Sachiko Kimura

Sci Rep. 2016; 6: 33247. Published online 2016 Sep 15. doi: 10.1038/srep33247

PMCID:: PMC5024095

Abstract Article PDF–3.4M

Select item 50212807.

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

Felipe Marques, Jessica Tenney, Ivan Duran, Jorge Martin, Lisette Nevarez, Robert Pogue, Deborah Krakow, Daniel H. Cohn, Bing Li

PLoS Genet. 2016 Sep; 12(9): e1006307. Published online 2016 Sep 13. doi: 10.1371/journal.pgen.1006307

Correction in:: PLoS Genet. 2016 Dec; 12(12): e1006502.

PMCID:: PMC5021280

Abstract Article PDF–4.3M

Select item 37281518.

Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

Hyeon Jin Kim, Young Bin Hong, Jin-Mo Park, Yu-Ri Choi, Ye Jin Kim, Bo Ram Yoon, Heasoo Koo, Jeong Hyun Yoo, Sang Beom Kim, Minhwa Park, Ki Wha Chung, Byung-Ok Choi

Orphanet J Rare Dis. 2013; 8: 104. Published online 2013 Jul 12. doi: 10.1186/1750-1172-8-104

PMCID:: PMC3728151

Abstract Article PDF–2.9M

Select item 34167709.

Conditional Knockout of the Menkes Disease Copper Transporter Demonstrates Its Critical Role in Embryogenesis

Yanfang Wang, Sha Zhu, Gary A. Weisman, Jonathan D. Gitlin, Michael J. Petris

PLoS One. 2012; 7(8): e43039. Published online 2012 Aug 10. doi: 10.1371/journal.pone.0043039

PMCID:: PMC3416770

Abstract Article PDF–1.2M

Select item 334824110.

Epigallocatechin gallate inhibits sphere formation of neuroblastoma BE(2)-C cells

Noriyuki Nishimura, Tri Budi Hartomo, Thi Van Huyen Pham, Myeong Jin Lee, Tomoto Yamamoto, Satoru Morikawa, Daiichiro Hasegawa, Hiroki Takeda, Keiichiro Kawasaki, Yoshiyuki Kosaka, Nobuyuki Yamamoto, Ikuko Kubokawa, Takeshi Mori, Tomoko Yanai, Akira Hayakawa, Yasuhiro Takeshima, Kazumoto Iijima, Masafumi Matsuo, Hisahide Nishio

Environ Health Prev Med. 2012 May; 17(3): 246–251. Published online 2011 Sep 10. doi: 10.1007/s12199-011-0239-5

PMCID:: PMC3348241

Abstract Article PDF–318K

Select item 316000011.

Mutation Detection in the Menkes Gene ATP7A Using the Protein Truncation Test

Lisbeth Birk Møller, Nina Horn

Clin Med Pathol. 2008; 1: 49–53. Published online 2008 Jun 19. doi: 10.4137/cpath.s565

PMCID:: PMC3160000

Abstract Article PDF–847K

Select item 315624412.

Diagnosis of Copper Transport Disorders

Lisbeth B. Møller, Julia D. Hicks, Courtney S. Holmes, David S. Goldstein, Cornelia Brendl, Peter Huppke, Stephen G. Kaler

Curr Protoc Hum Genet. Author manuscript; available in PMC 2012 Jul 1.

Published in final edited form as: Curr Protoc Hum Genet. 2011 Jul; CHAPTER: Unit17.9. doi: 10.1002/0471142905.hg1709s70

PMCID:: PMC3156244

Abstract Article PDF–1.1M

Select item 291411413.

ABC AND SLC TRANSPORTER EXPRESSION AND POT SUBSTRATE CHRACTERIZATION ACROSS THE HUMAN CMEC/D3 BLOOD-BRAIN BARRIER CELL LINE

Stephen M. Carl, David J. Lindley, Pierre O. Couraud, Babette B. Weksler, Ignacio Romero, Stephanie A. Mowery, Gregory T. Knipp

Mol Pharm. Author manuscript; available in PMC 2011 Aug 1.

Published in final edited form as: Mol Pharm. 2010 Aug 2; 7(4): 1057–1068. doi: 10.1021/mp900178j

Correction in:: Mol Pharm. 2012 Dec 3; 9(12): 3606.

PMCID:: PMC2914114

Abstract Article PDF–1.3M

Select item 281911714.

Comparing the use of Affymetrix to spotted oligonucleotide microarrays using two retinal pigment epithelium cell lines

Anna T. Rogojina, William E. Orr, Bong K. Song, Eldon E. Geisert, Jr.

Mol Vis. Author manuscript; available in PMC 2010 Feb 10.

Published in final edited form as: Mol Vis. 2003 Oct 6; 9: 482. Published online 2003 Oct 6.

PMCID:: PMC2819117

Abstract Article PDF–2.8M

Select item 276082615.

Gene expression in human lupus: bone marrow differentiates active from inactive patients and displays apoptosis and granulopoiesis signatures

Magdalene Nakou, Nicholas Knowlton, Mark B. Frank, George Bertsias, Jeanette Osban, Clayton E. Sandel, Eleni Papadaki, Amalia Raptopoulou, Prodromos Sidiropoulos, Heraklis Kritikos, Ioannis Tassiulas, Michael Centola, Dimitrios T. Boumpas

Arthritis Rheum. Author manuscript; available in PMC 2009 Nov 1.

Published in final edited form as: Arthritis Rheum. 2008 Nov; 58(11): 3541–3549. doi: 10.1002/art.23961