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Select item 97966121.

Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole‐exome sequencing in three fetuses with congenital hydrocephalus

Meng Li, Huayu Fu, Jiao Li, Dahua Meng, Qiang Zhang, Dongmei Fei

J Obstet Gynaecol Res. 2022 Oct; 48(10): 2624–2629. Published online 2022 Jul 17. doi: 10.1111/jog.15358

PMCID:: PMC9796612

Abstract Article PDF–2.3M

Select item 92316232.

ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1

Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen

Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119

PMCID:: PMC9231623

Abstract Article PDF–6.0M

Select item 86224923.

Fukutin Protein Participates in Cell Proliferation by Enhancing Cyclin D1 Expression through Binding to the Transcription Factor Activator Protein-1: An In Vitro Study

Yukinori Okamura, Tomoko Yamamoto, Ryota Tsukui, Yoichiro Kato, Noriyuki Shibata

Int J Mol Sci. 2021 Nov; 22(22): 12153. Published online 2021 Nov 10. doi: 10.3390/ijms222212153

PMCID:: PMC8622492

Abstract Article PDF–3.1M

Select item 81650304.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 58391585.

Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells

Giorgio Giurato, Giovanni Nassa, Annamaria Salvati, Elena Alexandrova, Francesca Rizzo, Tuula A. Nyman, Alessandro Weisz, Roberta Tarallo

Sci Data. 2018; 5: 180031. Published online 2018 Mar 6. doi: 10.1038/sdata.2018.31

PMCID:: PMC5839158

Abstract Article PDF–1.9M

Select item 57837436.

Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes

Carmen Haro, Mary Luz Uribe, Cristina Quereda, Jesús Cruces, José Martín-Nieto

Mol Vis. 2018; 24: 43–58. Published online 2018 Jan 20.

PMCID:: PMC5783743

Abstract Article PDF–27M

Select item 55316117.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 52268558.

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly

Samira Ismail, Ashleigh E. Schaffer, Rasim O. Rosti, Joseph G. Gleeson, Maha S. Zaki

Gene. Author manuscript; available in PMC 2017 Jan 11.

Published in final edited form as: Gene. 2014 Apr 15; 539(2): 279–282. Published online 2014 Feb 13. doi: 10.1016/j.gene.2014.01.070

PMCID:: PMC5226855

Abstract Article PDF–510K

Select item 50980409.

Direct Mapping of Additional Modifications on Phosphorylated O-glycans of α-Dystroglycan by Mass Spectrometry Analysis in Conjunction with Knocking Out of Causative Genes for Dystroglycanopathy

Hirokazu Yagi, Chu-Wei Kuo, Takayuki Obayashi, Satoshi Ninagawa, Kay-Hooi Khoo, Koichi Kato

Mol Cell Proteomics. 2016 Nov; 15(11): 3424–3434. Published online 2016 Sep 6. doi: 10.1074/mcp.M116.062729

PMCID:: PMC5098040

Abstract Article PDF–2.1M

Select item 487396710.

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

Isabelle Gerin, Benoît Ury, Isabelle Breloy, Céline Bouchet-Seraphin, Jennifer Bolsée, Mathias Halbout, Julie Graff, Didier Vertommen, Giulio G. Muccioli, Nathalie Seta, Jean-Marie Cuisset, Ivana Dabaj, Susana Quijano-Roy, Ammi Grahn, Emile Van Schaftingen, Guido T. Bommer

Nat Commun. 2016; 7: 11534. Published online 2016 May 19. doi: 10.1038/ncomms11534

PMCID:: PMC4873967

Abstract Article PDF–1.1M

Select item 461721111.

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2016 Jul 16.

Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043

PMCID:: PMC4617211

Abstract Article PDF–2.2M

Select item 422705012.

The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation

Tobias Willer, Kei-ichiro Inamori, David Venzke, Corinne Harvey, Greg Morgensen, Yuji Hara, Daniel Beltrán Valero de Bernabé, Liping Yu, Kevin M Wright, Kevin P Campbell

eLife. 2014; 3: e03941. Published online 2014 Oct 3. doi: 10.7554/eLife.03941

PMCID:: PMC4227050

Abstract Article PDF–2.3M

Select item 341217813.

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

Mariko Taniguchi-Ikeda, Kazuhiro Kobayashi, Motoi Kanagawa, Chih-chieh Yu, Kouhei Mori, Tetsuya Oda, Atsushi Kuga, Hiroki Kurahashi, Hasan O. Akman, Salvatore DiMauro, Ryuji Kaji, Toshifumi Yokota, Shin’ichi Takeda, Tatsushi Toda

Nature. Author manuscript; available in PMC 2012 Aug 5.

Published in final edited form as: Nature. 2011 Oct 6; 478(7367): 127–131. Published online 2011 Oct 5. doi: 10.1038/nature10456

PMCID:: PMC3412178

Abstract Article PDF–714K

Select item 334973414.

Genome-Wide Association for Abdominal Subcutaneous and Visceral Adipose Reveals a Novel Locus for Visceral Fat in Women

Caroline S. Fox, Yongmei Liu, Charles C. White, Mary Feitosa, Albert V. Smith, Nancy Heard-Costa, Kurt Lohman, GIANT Consortium, MAGIC Consortium, GLGC Consortium, Andrew D. Johnson, Meredith C. Foster, Danielle M. Greenawalt, Paula Griffin, Jinghong Ding, Anne B. Newman, Fran Tylavsky, Iva Miljkovic, Stephen B. Kritchevsky, Lenore Launer, Melissa Garcia, Gudny Eiriksdottir, J. Jeffrey Carr, Vilmunder Gudnason, Tamara B. Harris, L. Adrienne Cupples, Ingrid B. Borecki

PLoS Genet. 2012 May; 8(5): e1002695. Published online 2012 May 10. doi: 10.1371/journal.pgen.1002695

PMCID:: PMC3349734

Abstract Article PDF–377K

Select item 317805915.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 309130116.

Defining potentially conserved RNA regulons of homologous zinc-finger RNA-binding proteins

Tanja Scherrer, Christian Femmer, Ralph Schiess, Ruedi Aebersold, André P Gerber

Genome Biol. 2011; 12(1): R3. Published online 2011 Jan 13. doi: 10.1186/gb-2011-12-1-r3

PMCID:: PMC3091301

Abstract Article PDF–1.3M

Select item 294298617.

Meta-analysis of genome-wide association data identifies two loci influencing age at menarche

John R B Perry, Lisette Stolk, Nora Franceschini, Kathryn L Lunetta, Guangju Zhai, Patrick F McArdle, Albert V Smith, Thor Aspelund, Stefania Bandinelli, Eric Boerwinkle, Lynn Cherkas, Gudny Eiriksdottir, Karol Estrada, Luigi Ferrucci, Aaron R Folsom, Melissa Garcia, Vilmundur Gudnason, Albert Hofman, David Karasik, Douglas P Kiel, Lenore J Launer, Joyce van Meurs, Michael A Nalls, Fernando Rivadeneira, Alan R Shuldiner, Andrew Singleton, Nicole Soranzo, Toshiko Tanaka, Jenny A Visser, Michael N Weedon, Scott G Wilson, Vivian Zhuang, Elizabeth A Streeten, Tamara B Harris, Anna Murray, Tim D Spector, Ellen W Demerath, André G Uitterlinden, Joanne M Murabito

Nat Genet. Author manuscript; available in PMC 2010 Sep 21.

Published in final edited form as: Nat Genet. 2009 Jun; 41(6): 648–650. Published online 2009 May 17. doi: 10.1038/ng.386

PMCID:: PMC2942986

Abstract Article PDF–592K

Select item 273582718.

Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families

Wendy Chang, Thomas L. Winder, Charles A. LeDuc, Lynn L. Simpson, William S. Millar, Jeffrey Dungan, Norman Ginsberg, Stacey Plaga, Steven A. Moore, Wendy K. Chung

Prenat Diagn. Author manuscript; available in PMC 2009 Sep 1.

Published in final edited form as: Prenat Diagn. 2009 Jun; 29(6): 560–569. doi: 10.1002/pd.2238

Correction in:: volume 32 on page 1019

PMCID:: PMC2735827

Abstract Article PDF–1.0M

Select item 273408119.

DNA sequence and analysis of human chromosome 9

S. J. Humphray, K. Oliver, A. R. Hunt, R. W. Plumb, J. E. Loveland, K. L. Howe, T. D. Andrews, S. Searle, S. E. Hunt, C. E. Scott, M. C. Jones, R. Ainscough, J. P. Almeida, K. D. Ambrose, R. I. S. Ashwell, A. K. Babbage, S. Babbage, C. L. Bagguley, J. Bailey, R. Banerjee, D. J. Barker, K. F. Barlow, K. Bates, H. Beasley, O. Beasley, C. P. Bird, S. Bray-Allen, A. J. Brown, J. Y. Brown, D. Burford, W. Burrill, J. Burton, C. Carder, N. P. Carter, J. C. Chapman, Y. Chen, G. Clarke, S. Y. Clark, C. M. Clee, S. Clegg, R. E. Collier, N. Corby, M. Crosier, A. T. Cummings, J. Davies, P. Dhami, M. Dunn, I. Dutta, L. W. Dyer, M. E. Earthrowl, L. Faulkner, C. J. Fleming, A. Frankish, J. A. Frankland, L. French, D. G. Fricker, P. Garner, J. Garnett, J. Ghori, J. G. R. Gilbert, C. Glison, D. V. Grafham, S. Gribble, C. Griffiths, S. Griffiths-Jones, R. Grocock, J. Guy, R. E. Hall, S. Hammond, J. L. Harley, E. S. I. Harrison, E. A. Hart, P. D. Heath, C. D. Henderson, B. L. Hopkins, P. J. Howard, P. J. Howden, E. Huckle, C. Johnson, D. Johnson, A. A. Joy, M. Kay, S. Keenan, J. K. Kershaw, A. M. Kimberley, A. King, A. Knights, G. K. Laird, C. Langford, S. Lawlor, D. A. Leongamornlert, M. Leversha, C. Lloyd, D. M. Lloyd, J. Lovell, S. Martin, M. Mashreghi-Mohammadi, L. Matthews, S. McLaren, K. E. McLay, A. McMurray, S. Milne, T. Nickerson, J. Nisbett, G. Nordsiek, A. V. Pearce, A. I. Peck, K. M. Porter, R. Pandian, S. Pelan, B. Phillimore, S. Povey, Y. Ramsey, V. Rand, M. Scharfe, H. K. Sehra, R. Shownkeen, S. K. Sims, C. D. Skuce, M. Smith, C. A. Steward, D. Swarbreck, N. Sycamore, J. Tester, A. Thorpe, A. Tracey, A. Tromans, D. W. Thomas, M. Wall, J. M. Wallis, A. P. West, S. L. Whitehead, D. L. Willey, S. A. Williams, L. Wilming, P. W. Wray, L. Young, J. L. Ashurst, A. Coulson, H. Blöcker, R. Durbin, J. E. Sulston, T. Hubbard, M. J. Jackson, D. R. Bentley, S. Beck, J. Rogers, I. Dunham

Nature. Author manuscript; available in PMC 2009 Aug 28.

Published in final edited form as: Nature. 2004 May 27; 429(6990): 369–374. doi: 10.1038/nature02465

PMCID:: PMC2734081

Abstract Article PDF–1006K

Select item 269859320.

Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation

Rebecca L. Puckett, Steven A. Moore, Thomas L. Winder, Tobias Willer, Stephen G. Romansky, Kelly King Covault, Kevin P. Campbell, Jose E. Abdenur

Neuromuscul Disord. Author manuscript; available in PMC 2009 Jun 18.

Published in final edited form as: Neuromuscul Disord. 2009 May; 19(5): 352–356. Published online 2009 Apr 1. doi: 10.1016/j.nmd.2009.03.001

PMCID:: PMC2698593

Abstract Article PDF–1.3M

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