PMC Links for Gene (Select 81693) - PMC

Select item 46308791.

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report

Emma Montgomery, John A. Sayer, Laura A. Baines, Ann Marie Hynes, Virginia Vega-Warner, Sally Johnson, Judith A. Goodship, Edgar A. Otto

BMC Med Genet. 2015; 16: 35. Published online 2015 Jun 4. doi: 10.1186/s12881-015-0181-2

PMCID:: PMC4630879

Abstract Article PDF–563K

Select item 32265462.

Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities

Cameron M Beech, Sandya Liyanarachchi, Nidhi P Shah, Amy C Sturm, May F Sadiq, Albert de la Chapelle, Stephan M Tanner

Orphanet J Rare Dis. 2011; 6: 74. Published online 2011 Nov 13. doi: 10.1186/1750-1172-6-74

PMCID:: PMC3226546

Abstract Article PDF–339K

Select item 62838793.

Structural assembly of the megadalton-sized receptor for intestinal vitamin B₁₂ uptake and kidney protein reabsorption

Casper Larsen, Anders Etzerodt, Mette Madsen, Karsten Skjødt, Søren Kragh Moestrup, Christian Brix Folsted Andersen

Nat Commun. 2018; 9: 5204. Published online 2018 Dec 6. doi: 10.1038/s41467-018-07468-4

PMCID:: PMC6283879

Abstract Article PDF–2.4M

Select item 57993454.

Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells

Tomohiro Udagawa, Yutaka Harita, Kenichiro Miura, Jun Mitsui, Koji L. Ode, Shinichi Morishita, Seiya Urae, Shoichiro Kanda, Yuko Kajiho, Haruko Tsurumi, Hiroki R. Ueda, Shoji Tsuji, Akihiko Saito, Akira Oka

Sci Rep. 2018; 8: 2351. Published online 2018 Feb 5. doi: 10.1038/s41598-018-20731-4

PMCID:: PMC5799345

Abstract Article PDF–5.5M

Select item 32086925.

Luminal expression of cubilin is impaired in Imerslund-Gräsbeck syndrome with compound AMN mutations in intron 3 and exon 7

Fares Namour, Gabriele Dobrovoljski, Celine Chery, Sandra Audonnet, François Feillet, Wolfgang Sperl, Jean-Louis Gueant

Haematologica. 2011 Nov; 96(11): 1715–1719. doi: 10.3324/haematol.2011.043984

PMCID:: PMC3208692

Abstract Article PDF–835K

Select item 29640656.

AMN Directs Endocytosis of the Intrinsic Factor-Vitamin B₁₂ Receptor Cubam by Engaging ARH or Dab2

Gitte Albinus Pedersen, Souvik Chakraborty, Amie L. Stinhauser, Linton M. Traub, Mette Madsen

Traffic. Author manuscript; available in PMC 2011 May 1.

Published in final edited form as: Traffic. 2010 May; 11(5): 706–720. Published online 2010 Jan 18. doi: 10.1111/j.1600-0854.2010.01042.x

PMCID:: PMC2964065

Abstract Article PDF–1.5M

Select item 34626847.

Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns

Stephan M Tanner, Amy C Sturm, Elizabeth C Baack, Sandya Liyanarachchi, Albert de la Chapelle

Orphanet J Rare Dis. 2012; 7: 56. Published online 2012 Aug 28. doi: 10.1186/1750-1172-7-56

PMCID:: PMC3462684

Abstract Article PDF–417K

Select item 4036978.

The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment

Hilary F. Clark, Austin L. Gurney, Evangeline Abaya, Kevin Baker, Daryl Baldwin, Jennifer Brush, Jian Chen, Bernard Chow, Clarissa Chui, Craig Crowley, Bridget Currell, Bethanne Deuel, Patrick Dowd, Dan Eaton, Jessica Foster, Christopher Grimaldi, Qimin Gu, Philip E. Hass, Sherry Heldens, Arthur Huang, Hok Seon Kim, Laura Klimowski, Yisheng Jin, Stephanie Johnson, James Lee, Lhney Lewis, Dongzhou Liao, Melanie Mark, Edward Robbie, Celina Sanchez, Jill Schoenfeld, Somasekar Seshagiri, Laura Simmons, Jennifer Singh, Victoria Smith, Jeremy Stinson, Alicia Vagts, Richard Vandlen, Colin Watanabe, David Wieand, Kathryn Woods, Ming-Hong Xie, Daniel Yansura, Sothy Yi, Guoying Yu, Jean Yuan, Min Zhang, Zemin Zhang, Audrey Goddard, William I. Wood, Paul Godowski

Genome Res. 2003 Oct; 13(10): 2265–2270. doi: 10.1101/gr.1293003