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Select item 95458591.

Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy

Josefine d. S. Borch, Thomas Krag, Sonja D. Holm‐Yildiz, Hakan Cetin, Tuva A. Solheim, Freja Fornander, Volker Straub, Morten Duno, John Vissing

Hum Mutat. 2022 Sep; 43(9): 1234–1238. Published online 2022 Jul 16. doi: 10.1002/humu.24415

PMCID:: PMC9545859

Abstract Article PDF–636K

Select item 52102222.

Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders

Edoardo Malfatti, Montse Olivé, Ana Lía Taratuto, Pascale Richard, Guy Brochier, Marc Bitoun, Lucie Gueneau, Pascal Laforêt, Tanya Stojkovic, Thierry Maisonobe, Soledad Monges, Fabiana Lubieniecki, Gabriel Vasquez, Nathalie Streichenberger, Emmanuelle Lacène, Maria Saccoliti, Bernard Prudhon, Marilena Alexianu, Dominique Figarella-Branger, Joachim Schessl, Carsten Bonnemann, Bruno Eymard, Michel Fardeau, Gisèle Bonne, Norma Beatriz Romero

J Neuropathol Exp Neurol. Author manuscript; available in PMC 2017 Jan 4.

Published in final edited form as: J Neuropathol Exp Neurol. 2013 Sep; 72(9): 833–845. doi: 10.1097/NEN.0b013e3182a23506

PMCID:: PMC5210222

Abstract Article PDF–5.1M

Select item 49247343.

X-linked FHL1 as a novel therapeutic target for head and neck squamous cell carcinoma

Wei Cao, Jiannan Liu, Ronghui Xia, Lu Lin, Xu Wang, Meng Xiao, Chenping Zhang, Jiang Li, Tong Ji, Wantao Chen

Oncotarget. 2016 Mar 22; 7(12): 14537–14550. Published online 2016 Feb 18. doi: 10.18632/oncotarget.7478

PMCID:: PMC4924734

Abstract Article PDF–8.2M

Select item 48385354.

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 46657815.

Development of autoantibodies against muscle-specific FHL1 in severe inflammatory myopathies

Inka Albrecht, Cecilia Wick, Åsa Hallgren, Anna Tjärnlund, Kanneboyina Nagaraju, Felipe Andrade, Kathryn Thompson, William Coley, Aditi Phadke, Lina-Marcela Diaz-Gallo, Matteo Bottai, Inger Nennesmo, Karine Chemin, Jessica Herrath, Karin Johansson, Anders Wikberg, A. Jimmy Ytterberg, Roman A. Zubarev, Olof Danielsson, Olga Krystufkova, Jiri Vencovsky, Nils Landegren, Marie Wahren-Herlenius, Leonid Padyukov, Olle Kämpe, Ingrid E. Lundberg

J Clin Invest. 2015 Dec 1; 125(12): 4612–4624. Published online 2015 Nov 9. doi: 10.1172/JCI81031

PMCID:: PMC4665781

Abstract Article PDF–4.5M

Select item 42251586.

Identification of factor H-like protein 1 as the predominant complement regulator in Bruch’s membrane: implications for age-related macular degeneration

Simon J. Clark, Christoph Q. Schmidt, Anne M. White, Svetlana Hakobyan, B. Paul Morgan, Paul N. Bishop

J Immunol. Author manuscript; available in PMC 2015 May 15.

Published in final edited form as: J Immunol. 2014 Nov 15; 193(10): 4962–4970. Published online 2014 Oct 10. doi: 10.4049/jimmunol.1401613

PMCID:: PMC4225158

Abstract Article PDF–1001K

Select item 39171157.

Up-regulated FHL1 Expression Maybe Involved in the Prognosis of Hirschsprung's Disease

Li-Li Wang, Hui Gu, Yang Fan, Yi Zhang, Di Wu, Jia-Ning Miao, Tian-Chu Huang, Hui Li, Zheng-Wei Yuan

Int J Med Sci. 2014; 11(3): 262–267. Published online 2014 Jan 20. doi: 10.7150/ijms.7287

PMCID:: PMC3917115

Abstract Article PDF–753K

Select item 32353568.

Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy

Duygu Selcen, Mark B. Bromberg, Steven S. Chin, Andrew G. Engel

Neurology. 2011 Nov 29; 77(22): 1951–1959. doi: 10.1212/WNL.0b013e31823a0ebe

PMCID:: PMC3235356

Abstract Article PDF–1.2M

Select item 31902629.

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 301601010.

A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations

Dong-Hui Chen, Wendy H. Raskind, William W. Parson, Joshua A. Sonnen, Tiffany Vu, YunLin Zheng, Mark Matsushita, John Wolff, Hillary Lipe, Thomas D. Bird

J Neurol Sci. Author manuscript; available in PMC 2011 Sep 15.

Published in final edited form as: J Neurol Sci. 2010 Sep 15; 296(1-2): 22–29. Published online 2010 Jul 14. doi: 10.1016/j.jns.2010.06.017

PMCID:: PMC3016010

Abstract Article PDF–1.2M

Select item 277159511.

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 272492012.

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 225398613.

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 225396314.

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 224262315.

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 939884016.

MiR-96-5p Facilitates Lung Adenocarcinoma Cell Phenotypes by Inhibiting FHL1

Feng Zhou, Chaojie Qian, Tingting Chen, Xiaoliang Zang

Comput Math Methods Med. 2022; 2022: 7891222. Published online 2022 Aug 16. doi: 10.1155/2022/7891222

PMCID:: PMC9398840

Abstract Article PDF–1.8M

Select item 773773817.

Structural and Functional Characterization of Host FHL1 Protein Interaction with Hypervariable Domain of Chikungunya Virus nsP3 Protein

Tetyana Lukash, Tatiana Agback, Francisco Dominguez, Nikita Shiliaev, Chetan Meshram, Elena I. Frolova, Peter Agback, Ilya Frolov

J Virol. 2021 Jan; 95(1): e01672-20. Prepublished online 2020 Oct 14. Published online 2020 Dec 9. doi: 10.1128/JVI.01672-20

PMCID:: PMC7737738

Abstract Article PDF–12M

Select item 620923318.

Proteomic analysis of human prostate cancer PC-3M-1E8 cells and PC-3M-2B4 cells of same origin but with different metastatic potential

Shujiang Zhang, Chengcheng Zheng, Shunheng Yao, Zhonghui Wang, Li Xu, Rongfu Yang, Xiang Meng, Jianhui Wu, Li Zhou, Zuyue Sun

PLoS One. 2018; 13(10): e0206139. Published online 2018 Oct 31. doi: 10.1371/journal.pone.0206139

PMCID:: PMC6209233

Abstract Article PDF–5.2M

Select item 433504019.

FHL1 Reduces Dystrophy in Transgenic Mice Overexpressing FSHD Muscular Dystrophy Region Gene 1 (FRG1)

Sandra J. Feeney, Meagan J. McGrath, Absorn Sriratana, Stefan M. Gehrig, Gordon S. Lynch, Colleen E. D’Arcy, John T. Price, Catriona A. McLean, Rossella Tupler, Christina A. Mitchell

PLoS One. 2015; 10(2): e0117665. Published online 2015 Feb 19. doi: 10.1371/journal.pone.0117665

PMCID:: PMC4335040

Abstract Article PDF–25M

Select item 418271920.

MiR-410 Is Overexpressed in Liver and Colorectal Tumors and Enhances Tumor Cell Growth by Silencing FHL1 via a Direct/Indirect Mechanism

Yu Wang, Jie Fu, Mengmeng Jiang, Xiaoai Zhang, Long Cheng, Xiaojie Xu, Zhongyi Fan, Jing Zhang, Qinong Ye, Haifeng Song

PLoS One. 2014; 9(10): e108708. Published online 2014 Oct 1. doi: 10.1371/journal.pone.0108708

PMCID:: PMC4182719

Abstract Article PDF–155K

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