| a novel FHL1 splice site variant results in the absence of FHL1A and the abundance of FHL1C, which may contribute to the complex and severe phenotype of Uruguay syndrome. | 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.
Xue Y, Schoser B, Rao AR, Quadrelli R, Vaglio A, Rupp V, Beichler C, Nelson SF, Schapacher-Tilp G, Windpassinger C, Wilcox WR., Free PMC Article | 01/14/2017 |
| Knockdown of FHL1 with FHL1 small interfering RNA (siRNA) promoted tumor growth and Cyclin D and cyclin E were markedly elevated at both the protein and mRNA level. | FHL1 inhibits the growth of tongue squamous cell carcinoma cells via G1/S cell cycle arrest.
Ren W, Lian P, Cheng L, Du P, Guan X, Wang H, Ding L, Gao Z, Huang X, Xiao F, Wang L, Bi X, Ye Q, Wang E. | 05/14/2016 |
| results indicate that anti-FHL1 autoantibodies in peripheral blood have promising potential as a biomarker to identify a subset of severe IIM. | Development of autoantibodies against muscle-specific FHL1 in severe inflammatory myopathies.
Albrecht I, Wick C, Hallgren Å, Tjärnlund A, Nagaraju K, Andrade F, Thompson K, Coley W, Phadke A, Diaz-Gallo LM, Bottai M, Nennesmo I, Chemin K, Herrath J, Johansson K, Wikberg A, Ytterberg AJ, Zubarev RA, Danielsson O, Krystufkova O, Vencovsky J, Landegren N, Wahren-Herlenius M, Padyukov L, Kämpe O, Lundberg IE., Free PMC Article | 02/6/2016 |
| In healthy individuals, FHL1A is the predominant splice variant and is mainly found in skeletal and cardiac muscle. In two individuals with an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology, there was demonstrated loss of isoform A and B, and an almost 200-fold overexpression of isoform C. | A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology.
Pen AE, Nyegaard M, Fang M, Jiang H, Christensen R, Mølgaard H, Andersen H, Ulhøi BP, Østergaard JR, Væth S, Sommerlund M, de Brouwer AP, Zhang X, Jensen UB. | 01/30/2016 |
| FRG1 mice overexpressing FHL1 showed an improvement in the dystrophic phenotype | FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1).
Feeney SJ, McGrath MJ, Sriratana A, Gehrig SM, Lynch GS, D'Arcy CE, Price JT, McLean CA, Tupler R, Mitchell CA., Free PMC Article | 11/21/2015 |
| FHL1 shRNA could significantly accelerate tumor cell growth via inhibiting the expression of FHL1 | [FHL1 knockdown mediated by lentiviral shRNA promotes the growth of HeLa and HepG2 cells].
Fan Z, Xu X, Zhang X, Wang T, Han B, Liang Y, Ye Q, Jiao S. | 11/14/2015 |
| Our results suggest that miR-410 may function as an oncomiR and are consistent with its key function in regulating FHL1 in certain digestive system cancers. | MiR-410 is overexpressed in liver and colorectal tumors and enhances tumor cell growth by silencing FHL1 via a direct/indirect mechanism.
Wang Y, Fu J, Jiang M, Zhang X, Cheng L, Xu X, Fan Z, Zhang J, Ye Q, Song H., Free PMC Article | 06/20/2015 |
| These data suggested that up-regulated FHL1 in smooth muscle in HSCR might be associated with intestinal wall remodeling in HSCR and might be one of the risk factors for gastrointestinal motor dysfunction | Up-regulated FHL1 expression maybe involved in the prognosis of Hirschsprung's disease.
Wang LL, Gu H, Fan Y, Zhang Y, Wu D, Miao JN, Huang TC, Li H, Yuan ZW., Free PMC Article | 04/25/2015 |
| This is the first study to show that FHL1 mutations identified in several clinically distinct myopathies lead to similar protein aggregation and impair myotube formation. | FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation.
Wilding BR, McGrath MJ, Bonne G, Mitchell CA. | 04/18/2015 |
| The study has revealed that FHL1C overexpression induces Jurkat cell apoptosis. | FHL1C induces apoptosis in Notch1-dependent T-ALL cells through an interaction with RBP-J.
Fu W, Wang K, Zhao JL, Yu HC, Li SZ, Lin Y, Liang L, Huang SY, Liang YM, Han H, Qin HY., Free PMC Article | 03/21/2015 |
| FHL-1 is the predominant complement regulator in Bruch's membrane having direct implications for age-related macular degeneration. | Identification of factor H-like protein 1 as the predominant complement regulator in Bruch's membrane: implications for age-related macular degeneration.
Clark SJ, Schmidt CQ, White AM, Hakobyan S, Morgan BP, Bishop PN., Free PMC Article | 02/28/2015 |
| Data indicate that four-and-a-half LIM domain 1 gene FHL1 mutation causing isolated hypertrophic cardiomyopathy with X-chromosomal inheritance. | Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.
Hartmannova H, Kubanek M, Sramko M, Piherova L, Noskova L, Hodanova K, Stranecky V, Pristoupilova A, Sovova J, Marek T, Maluskova J, Ridzon P, Kautzner J, Hulkova H, Kmoch S. | 08/16/2014 |
| Data show that loss of FHL1 function leads to myopathy in vivo and suggest that loss of function of FHL1 may be one of the mechanisms underlying muscle dystrophy in patients with FHL1 mutations. | Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.
Domenighetti AA, Chu PH, Wu T, Sheikh F, Gokhin DS, Guo LT, Cui Z, Peter AK, Christodoulou DC, Parfenov MG, Gorham JM, Li DY, Banerjee I, Lai X, Witzmann FA, Seidman CE, Seidman JG, Gomes AV, Shelton GD, Lieber RL, Chen J., Free PMC Article | 08/9/2014 |
| mutation of FHL1 confers a complex phenotype through both gain- and loss-of-function mechanisms | Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.
Tiffin HR, Jenkins ZA, Gray MJ, Cameron-Christie SR, Eaton J, Aftimos S, Markie D, Robertson SP. | 12/21/2013 |
| This study demonistrated that the expand the morphologic features of reducing body myopathy , clearly demonstrate the localization of FHL1 in skeletal muscles. | Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
Malfatti E, Olivé M, Taratuto AL, Richard P, Brochier G, Bitoun M, Gueneau L, Laforêt P, Stojkovic T, Maisonobe T, Monges S, Lubieniecki F, Vasquez G, Streichenberger N, Lacène E, Saccoliti M, Prudhon B, Alexianu M, Figarella-Branger D, Schessl J, Bonnemann C, Eymard B, Fardeau M, Bonne G, Romero NB., Free PMC Article | 10/26/2013 |
| FHL1 downregulation is associated with oral squamous cell carcinoma. | High prevalence of epigenetic inactivation of the human four and a half LIM domains 1 gene in human oral cancer.
Koike K, Kasamatsu A, Iyoda M, Saito Y, Kouzu Y, Koike H, Sakamoto Y, Ogawara K, Tanzawa H, Uzawa K. | 10/26/2013 |
| FHL1 is a methylation-silenced tumor-suppressor gene on chromosome X in gastrointestinal cancers, and that its silencing contributes to the formation of an epigenetic field for cancerization. | FHL1 on chromosome X is a single-hit gastrointestinal tumor-suppressor gene and contributes to the formation of an epigenetic field defect.
Asada K, Ando T, Niwa T, Nanjo S, Watanabe N, Okochi-Takada E, Yoshida T, Miyamoto K, Enomoto S, Ichinose M, Tsukamoto T, Ito S, Tatematsu M, Sugiyama T, Ushijima T. | 06/22/2013 |
| A mother, daughter, and son suffering from FHL1 myopathy have a mutation in the second LIM domain of fhl1 with musculoskeletal involvement. | Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: an imaging study using computed tomography.
Komagamine T, Kawai M, Kokubun N, Miyatake S, Ogata K, Hayashi YK, Nishino I, Hirata K. | 03/30/2013 |
| C224W mutation of FHLi protein had slightly elevated pulmonary artery pressure | Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.
Binder JS, Weidemann F, Schoser B, Niemann M, Machann W, Beer M, Plank G, Schmidt A, Bisping E, Poparic I, Lafer I, Stojakovic T, Quasthoff S, Vincent JB, Rienmueller R, Speicher MR, Berghold A, Pieske B, Windpassinger C. | 03/23/2013 |
| performed a clinical, muscle MRI, and histopathological characterization and immunoblot and genetic analysis of the FHL1 protein in a family with 4 individuals affected by reducing body myopathy. Identified a novel missense mutation in FHL1 | Novel FHL1 mutation in a family with reducing body myopathy.
Schreckenbach T, Henn W, Kress W, Roos A, Maschke M, Feiden W, Dillmann U, Schulz JB, Weis J, Claeys KG. | 02/23/2013 |
| FHL1 is a novel disease gene for hypertrophic cardiomyopathy. | Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy.
Friedrich FW, Wilding BR, Reischmann S, Crocini C, Lang P, Charron P, Müller OJ, McGrath MJ, Vollert I, Hansen A, Linke WA, Hengstenberg C, Bonne G, Morner S, Wichter T, Madeira H, Arbustini E, Eschenhagen T, Mitchell CA, Isnard R, Carrier L. | 01/26/2013 |
| A novel mechanism involving four-and-a-half LIM domain protein-1 and extracellular signal-regulated kinase-2 regulates titin phosphorylation and mechanics. | A novel mechanism involving four-and-a-half LIM domain protein-1 and extracellular signal-regulated kinase-2 regulates titin phosphorylation and mechanics.
Raskin A, Lange S, Banares K, Lyon RC, Zieseniss A, Lee LK, Yamazaki KG, Granzier HL, Gregorio CC, McCulloch AD, Omens JH, Sheikh F., Free PMC Article | 11/24/2012 |
| The decrease in or loss of FHL1 expression may be related to the incidence, progression, invasiveness, and metastatic potential of gastric cancer. | Expression of FHL1 in gastric cancer tissue and its correlation with the invasion and metastasis of gastric cancer.
Xu Y, Liu Z, Guo K. | 07/7/2012 |
| reduced expression of FHL1 may play an important role in the development and progression of lung cancer. | Downregulation and growth inhibitory role of FHL1 in lung cancer.
Niu C, Liang C, Guo J, Cheng L, Zhang H, Qin X, Zhang Q, Ding L, Yuan B, Xu X, Li J, Lin J, Ye Q. | 05/12/2012 |
| FHL1-3 inhibit HIF-1 transcriptional activity and HIF-1alpha transactivation domain function by oxygen-independent mechanisms. | Four-and-a-half LIM domain proteins inhibit transactivation by hypoxia-inducible factor 1.
Hubbi ME, Gilkes DM, Baek JH, Semenza GL., Free PMC Article | 04/28/2012 |