PMC Links for OMIM (Select 601282) - PMC

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Items: 10

Select item 92076251.

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex

Wei-Ting TU, Peng-Chieh CHEN, Ping-Chen HOU, Hsin-Yu HUANG, Jing-Yu WANG, Sheau-Chiou CHAO, Julia Yu-Yun LEE, John A. MCGRATH, Ken NATSUGA, Chao-Kai HSU

Acta Derm Venereol. 2020; 100(15): 5849. Published online 2020 Aug 18. doi: 10.2340/00015555-3600

PMCID:: PMC9207625

Article PDF–1015K

Select item 45126242.

Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle

Lilli Winter, Andrey V. Kuznetsov, Michael Grimm, Anikó Zeöld, Irmgard Fischer, Gerhard Wiche

Hum Mol Genet. 2015 Aug 15; 24(16): 4530–4544. Published online 2015 May 27. doi: 10.1093/hmg/ddv184

PMCID:: PMC4512624

Abstract Article PDF–2.0M

Select item 30344153.

Myasthenic syndrome caused by plectinopathy

D. Selcen, V.C. Juel, L.D. Hobson-Webb, E.C. Smith, D.E. Stickler, A.V. Bite, K. Ohno, A.G. Engel

Neurology. 2011 Jan 25; 76(4): 327–336. doi: 10.1212/WNL.0b013e31820882bd

PMCID:: PMC3034415

Abstract Article PDF–1.5M

Select item 29973734.

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

Hulya Gundesli, Beril Talim, Petek Korkusuz, Burcu Balci-Hayta, Sebahattin Cirak, Nurten A. Akarsu, Haluk Topaloglu, Pervin Dincer

Am J Hum Genet. 2010 Dec 10; 87(6): 834–841. doi: 10.1016/j.ajhg.2010.10.017

PMCID:: PMC2997373

Abstract Article PDF–945K

Select item 22890515.

Cloning and sequencing of rat plectin indicates a 466-kD polypeptide chain with a three-domain structure based on a central alpha-helical coiled coil

J Cell Biol. 1991 Jul 1; 114(1): 83–99. doi: 10.1083/jcb.114.1.83

PMCID:: PMC2289051

Summary PDF–2.4M

Select item 18675146.

Epidermolysis Bullosa Simplex Associated with Pyloric Atresia Is a Novel Clinical Subtype Caused by Mutations in the Plectin Gene (PLEC1)

Hiroyuki Nakamura, Daisuke Sawamura, Maki Goto, Hideki Nakamura, James R. McMillan, Susam Park, Sumio Kono, Shiro Hasegawa, Son’e Paku, Tomohiko Nakamura, Yoshihumi Ogiso, Hiroshi Shimizu

J Mol Diagn. 2005 Feb; 7(1): 28–35. doi: 10.1016/S1525-1578(10)60005-0