PMC Links for OMIM (Select 300163) - PMC

Select item 75941731.

Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice

Akatsuki Kubota, Martí Juanola-Falgarona, Valentina Emmanuele, Maria Jose Sanchez-Quintero, Shingo Kariya, Fusako Sera, Shunichi Homma, Kurenai Tanji, Catarina M Quinzii, Michio Hirano

Hum Mol Genet. 2019 Jan 15; 28(2): 209–219. Published online 2018 Sep 26. doi: 10.1093/hmg/ddy299

PMCID:: PMC7594173

Abstract Article PDF–32M

Select item 48385352.

Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder with Skeletal Muscle Hypertrophy and Premature Cardiac Death

Yuan Xue, Benedikt Schoser, Aliz R. Rao, Roberto Quadrelli, Alicia Vaglio, Verena Rupp, Christine Beichler, Stanley F. Nelson, Gudrun Schapacher-Tilp, Christian Windpassinger, William R. Wilcox

Circ Cardiovasc Genet. Author manuscript; available in PMC 2017 Apr 1.

Published in final edited form as: Circ Cardiovasc Genet. 2016 Apr; 9(2): 130–135. Published online 2016 Mar 1. doi: 10.1161/CIRCGENETICS.115.001193

PMCID:: PMC4838535

Abstract Article PDF–706K

Select item 43426983.

Fhl1 W122S causes loss of protein function and late-onset mild myopathy

Valentina Emmanuele, Akatsuki Kubota, Beatriz Garcia-Diaz, Caterina Garone, Hasan O. Akman, Daniel Sánchez-Gutiérrez, Luis M. Escudero, Shingo Kariya, Shunichi Homma, Kurenai Tanji, Catarina M. Quinzii, Michio Hirano

Hum Mol Genet. 2015 Feb 1; 24(3): 714–726. Published online 2014 Sep 30. doi: 10.1093/hmg/ddu490

PMCID:: PMC4342698

Abstract Article PDF–1007K

Select item 31902624.

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene

Anna Sarkozy, Christian Windpassinger, Judith Hudson, Charlotte F Dougan, Bryan Lecky, David Hilton-Jones, Michelle Eagle, Richard Charlton, Rita Barresi, Hanns Lochmüller, Kate Bushby, Volker Straub

Eur J Hum Genet. 2011 Oct; 19(10): 1038–1044. Published online 2011 Jun 1. doi: 10.1038/ejhg.2011.84

PMCID:: PMC3190262

Abstract Article PDF–433K

Select item 27715955.

Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

Lucie Gueneau, Anne T. Bertrand, Jean-Philippe Jais, Mustafa A. Salih, Tanya Stojkovic, Manfred Wehnert, Maria Hoeltzenbein, Simone Spuler, Shinji Saitoh, Annie Verschueren, Christine Tranchant, Maud Beuvin, Emmanuelle Lacene, Norma B. Romero, Simon Heath, Diana Zelenika, Thomas Voit, Bruno Eymard, Rabah Ben Yaou, Gisèle Bonne

Am J Hum Genet. 2009 Sep 11; 85(3): 338–353. doi: 10.1016/j.ajhg.2009.07.015

PMCID:: PMC2771595

Abstract Article PDF–1.0M

Select item 27249206.

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1

Joachim Schessl, Ana L. Taratuto, Caroline Sewry, Roberta Battini, Steven S. Chin, Baijayanta Maiti, Alberto L. Dubrovsky, Marcela G. Erro, Graciela Espada, Monica Robertella, Maria Saccoliti, Patricia Olmos, Leslie R. Bridges, Peter Standring, Ying Hu, Yaqun Zou, Kathryn J. Swoboda, Mena Scavina, Hans-Hilmar Goebel, Christina A. Mitchell, Kevin M. Flanigan, Francesco Muntoni, Carsten G. Bönnemann

Brain. 2009 Feb; 132(2): 452–464. Published online 2008 Jan 29. doi: 10.1093/brain/awn325

PMCID:: PMC2724920

Abstract Article PDF–1.0M

Select item 22539867.

An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1

Christian Windpassinger, Benedikt Schoser, Volker Straub, Sonja Hochmeister, Abdul Noor, Birgit Lohberger, Natalie Farra, Erwin Petek, Thomas Schwarzbraun, Lisa Ofner, Wolfgang N. Löscher, Klaus Wagner, Hanns Lochmüller, John B. Vincent, Stefan Quasthoff

Am J Hum Genet. 2008 Jan 10; 82(1): 88–99. Published online 2008 Jan 4. doi: 10.1016/j.ajhg.2007.09.004

PMCID:: PMC2253986

Abstract Article PDF–1.2M

Select item 22539638.

X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1

Catarina M. Quinzii, Tuan H. Vu, K. Christopher Min, Kurenai Tanji, Sandra Barral, Raji P. Grewal, Andrea Kattah, Pilir Camaño, David Otaegui, Teruhito Kunimatsu, David M. Blake, Kirk C. Wilhelmsen, Lewis P. Rowland, Arthur P. Hays, Eduardo Bonilla, Michio Hirano

Am J Hum Genet. 2008 Jan 10; 82(1): 208–213. Published online 2008 Jan 4. doi: 10.1016/j.ajhg.2007.09.013

PMCID:: PMC2253963

Abstract Article PDF–542K

Select item 22426239.

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

Joachim Schessl, Yaqun Zou, Meagan J. McGrath, Belinda S. Cowling, Baijayanta Maiti, Steven S. Chin, Caroline Sewry, Roberta Battini, Ying Hu, Denny L. Cottle, Michael Rosenblatt, Lynn Spruce, Arupa Ganguly, Janbernd Kirschner, Alexander R. Judkins, Jeffrey A. Golden, Hans-Hilmar Goebel, Francesco Muntoni, Kevin M. Flanigan, Christina A. Mitchell, Carsten G. Bönnemann

J Clin Invest. 2008 Mar 3; 118(3): 904–912. Published online 2008 Feb 14. doi: 10.1172/JCI34450

PMCID:: PMC2242623

Abstract Article PDF–1.0M

Select item 10216610.

A Family of LIM-Only Transcriptional Coactivators: Tissue-Specific Expression and Selective Activation of CREB and CREM

Gian Maria Fimia, Dario De Cesare, Paolo Sassone-Corsi

Mol Cell Biol. 2000 Nov; 20(22): 8613–8622. doi: 10.1128/mcb.20.22.8613-8622.2000

PMCID:: PMC102166

Abstract Article PDF–2.8M

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