PMC Links for OMIM (Select 614071) - PMC

Select item 109421631.

Biallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy

Juan Pablo Ochoa, Laura Lalaguna, Jesús G. Mirelis, Fernando Dominguez, Esther Gonzalez-Lopez, Clara Salas, Gaston Roustan, Kathryn A. McGurk, Sean L. Zheng, Paul J.R. Barton, James S. Ware, María Victoria Gómez-Gaviro, Enrique Lara-Pezzi, Pablo Garcia-Pavia

Circ Heart Fail. 2024 Mar; 17(3): e011226. Published online 2024 Mar 4. doi: 10.1161/CIRCHEARTFAILURE.123.011226

PMCID:: PMC10942163

Article PDF–291K

Select item 95289702.

A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy

Aleš Maver, Tamara Žigman, Ashraf Yusuf Rangrez, Marijana Ćorić, Jan Homolak, Dalibor Šarić, Iva Škifić, Mario Udovičić, Marija Zekušić, Umber Saleem, Sandra D. Laufer, Arne Hansen, Norbert Frey, Ivo Barić, Borut Peterlin

Cold Spring Harb Mol Case Stud. 2022 Aug; 8(5): a006221. doi: 10.1101/mcs.a006221

PMCID:: PMC9528970

Abstract Article PDF–1.6M

Select item 86561113.

GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy

Krista Heliö, Mikko I. Mäyränpää, Inka Saarinen, Saija Ahonen, Heidi Junnila, Johanna Tommiska, Sini Weckström, Miia Holmström, Mia Toivonen, Kjell Nikus, Julie Hathaway, Pauli Siivonen, Mikko Muona, Johanna Sistonen, Pertteli Salmenperä, Massimiliano Gentile, Jussi Paananen, Samuel Myllykangas, Tero-Pekka Alastalo, Tiina Heliö, Juha Koskenvuo

Front Genet. 2021; 12: 786705. Published online 2021 Nov 25. doi: 10.3389/fgene.2021.786705

PMCID:: PMC8656111

Abstract Article PDF–2.3M

Select item 30419504.

Cdc42-dependent formation of the ZO-1/MRCKβ complex at the leading edge controls cell migration

Lin Huo, Wenyu Wen, Rui Wang, Chuen Kam, Jun Xia, Wei Feng, Mingjie Zhang

EMBO J. 2011 Feb 16; 30(4): 665–678. Published online 2011 Jan 14. doi: 10.1038/emboj.2010.353

PMCID:: PMC3041950

Abstract Article PDF–3.5M

Select item 28560955.

Myozap, a novel intercalated disc protein, activates SRF-dependent signaling and is required to maintain cardiac function in vivo

Thalia S. Seeger, Derk Frank, Claudia Rohr, Rainer Will, Steffen Just, Christine Grund, Robert Lyon, Mark Lüdde, Manfred Koegl, Farah Sheikh, Wolfgang Rottbauer, Werner W. Franke, Hugo A. Katus, Eric N. Olson, Norbert Frey

Circ Res. Author manuscript; available in PMC 2011 Mar 19.

Published in final edited form as: Circ Res. 2010 Mar 19; 106(5): 880–890. Published online 2010 Jan 21. doi: 10.1161/CIRCRESAHA.109.213256

PMCID:: PMC2856095

Abstract Article PDF–6.8M

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