PMC Links for Gene (Select 2218) - PMC

Links from Gene

Items: 1 to 20 of 27

<< First< Prev

Page of 2

Next >Last >>

Select item 52268551.

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 25777132.

Ethnically Diverse Causes of Walker-Warburg Syndrome (WWS): FCMD Mutations Are a More Common Cause of WWS Outside of the Middle East

M. Chiara Manzini, Danielle Gleason, Bernard S. Chang, R. Sean Hill, Brenda J. Barry, Jennifer N. Partlow, Annapurna Poduri, Sophie Currier, Patricia Galvin-Parton, Lawrence R. Shapiro, Karen Schmidt, Jessica G. Davis, Lina Basel-Vanagaite, Mohamed Z. Seidahmed, Mustafa A. M. Salih, William B. Dobyns, Christopher A. Walsh

Hum Mutat. Author manuscript; available in PMC 2009 May 1.

Published in final edited form as: Hum Mutat. 2008 Nov; 29(11): E231–E241. doi: 10.1002/humu.20844

PMCID:: PMC2577713

Abstract Article PDF–846K

Select item 17353023.

A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

d Beltran-Valero, H van Bokhoven, E van Beusekom, W Van den Akker, S Kant, W Dobyns, B Cormand, S Currier, B Hamel, B Talim, H Topaloglu, H Brunner

J Med Genet. 2003 Nov; 40(11): 845–848. doi: 10.1136/jmg.40.11.845

PMCID:: PMC1735302

Summary PDF–470K

Select item 86224924.

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 57837435.

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 34121786.

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 27358277.

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 26985938.

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

Select item 26139799.

A role of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in cancer cells: a possible role to suppress cell proliferation

Tomoko Yamamoto, Yoichiro Kato, Noriyuki Shibata, Tatsuo Sawada, Makiko Osawa, Makio Kobayashi

Int J Exp Pathol. 2008 Oct; 89(5): 332–341. doi: 10.1111/j.1365-2613.2008.00599.x

PMCID:: PMC2613979

Abstract Article PDF–474K

Select item 979661210.

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 509804011.

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 487396712.

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 294298613.

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 422705014.

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 334973415.

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 273408116.

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 309130117.

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 923162318.

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 51531619.

Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions

Yutaka Suzuki, Riu Yamashita, Matsuyuki Shirota, Yuta Sakakibara, Joe Chiba, Junko Mizushima-Sugano, Kenta Nakai, Sumio Sugano

Genome Res. 2004 Sep; 14(9): 1711–1718. doi: 10.1101/gr.2435604

PMCID:: PMC515316

Abstract Article PDF–181K

Select item 583915820.

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

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 27

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity