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2021 8
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Pleiotropic effects of MORC2 derive from its epigenetic signature.
Peymani F, Ebihara T, Smirnov D, Kopajtich R, Ando M, Bertini E, Carrozzo R, Diodato D, Distelmaier F, Fang F, Ghezzi D, Hempel M, Iwanicka-Pronicka K, Klopstock T, Stenton SL, Lamperti C, Liu Z, Murtazina A, Okamoto Y, Okazaki Y, Piekutowska-Abramczuk D, Rötig A, Ryzhkova O, Schlein C, Shagina O, Takashima H, Tsygankova P, Zech M, Meitinger T, Shimura M, Murayama K, Prokisch H. Peymani F, et al. Brain. 2026 Jan 8;149(1):163-177. doi: 10.1093/brain/awaf159. Brain. 2026. PMID: 40302207 Free PMC article.
Concomitant downregulation of three disease-associated genes-ERCC8, NDUFAF2 and FKTN-at different levels mirrors the variable biochemical defects and clinical manifestations observed in MORC2 patients. ...
Concomitant downregulation of three disease-associated genes-ERCC8, NDUFAF2 and FKTN-at different levels mirrors the variable biochem …
Transgene-induced cardiotoxicity in high-dose AAV gene transfer.
Biquand A, Gicquel E, Poupiot J, Faivre M, Campuzano S, Bourgeton T, Le Brun PR, Veron P, Brureau A, Richard I. Biquand A, et al. Mol Ther. 2026 Apr 1;34(4):2012-2027. doi: 10.1016/j.ymthe.2025.12.042. Epub 2025 Dec 24. Mol Ther. 2026. PMID: 41445184
In the wake of signs of cardiac symptoms in several human patients after gene transfer, we investigated the effects on the heart of systemic administration of high doses of AAV vectors expressing three different transgenes, corresponding to Duchenne muscular dystrophy, gamma-sarc …
In the wake of signs of cardiac symptoms in several human patients after gene transfer, we investigated the effects on the heart of systemic …
Genetic and Clinical Spectrum of Limb-Girdle Muscular Dystrophies in Western Sicily.
Rini N, Lupica A, Alonge P, Crescimanno G, Pignolo A, Messina C, Santa Paola S, Giuliano M, Borgione E, Lo Giudice M, Scuderi C, Di Stefano V, Brighina F. Rini N, et al. Genes (Basel). 2025 Aug 21;16(8):987. doi: 10.3390/genes16080987. Genes (Basel). 2025. PMID: 40870035 Free PMC article.
A molecular diagnosis was achieved in 24 (85.7%) of patients, most commonly carrying mutations in CAPN3 (14 patients, 50%), followed by DYSF, LAMA2, ANO5, FKTN and TTN genes. Pathogenic variants in CAPN3 and LAMA2 were associated with earlier onset and longer disease durat …
A molecular diagnosis was achieved in 24 (85.7%) of patients, most commonly carrying mutations in CAPN3 (14 patients, 50%), followed by DYSF …
Vitamin D status, vitamin D receptor polymorphisms, and risk of cardiometabolic multimorbidity.
Ma J, Li P, Wang J, Zhang H, Li Z, Tao L, Yang X, Luo Y, Guo X, Gao B. Ma J, et al. Nutr J. 2025 May 11;24(1):76. doi: 10.1186/s12937-025-01139-z. Nutr J. 2025. PMID: 40350429 Free PMC article.

Compared to participants with 25(OH)D < 25 nmol/L, those with 25(OH)D 75 nmol/L had HRs of 0.70 (95% CI, 0.67, 0.72) for baseline to first CMD (FCMD), 0.74 (95% CI, 0.67, 0.82) for FCMD to CMM, 0.66 (95% CI, 0.62, 0.70) for baseline to death, 0.84 (95% CI, 0.77

…

Compared to participants with 25(OH)D < 25 nmol/L, those with 25(OH)D 75 nmol/L had HRs of 0.70 (95% CI, 0.67, 0.72) for baseline to fi

…
Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.
Enkhjargal S, Sugahara K, Khaledian B, Nagasaka M, Inagaki H, Kurahashi H, Koshimizu H, Toda T, Taniguchi-Ikeda M. Enkhjargal S, et al. Hum Mol Genet. 2023 Apr 6;32(8):1301-1312. doi: 10.1093/hmg/ddac286. Hum Mol Genet. 2023. PMID: 36426838 Free article.
Fukuyama congenital muscular dystrophy (FCMD) is an autosomal recessive disorder caused by fukutin (FKTN) gene mutations. FCMD is the second most common form of childhood muscular dystrophy in Japan, and the most patients possess a homozygous retrotran …
Fukuyama congenital muscular dystrophy (FCMD) is an autosomal recessive disorder caused by fukutin (FKTN) gene mutation …
Genetic Determinants and Genotype-Phenotype Correlations in Vietnamese Patients With Dilated Cardiomyopathy.
Nguyen TV, Tran Vu MT, Do TNP, Tran THN, Do TH, Nguyen TMH, Tran Huynh BN, Le LA, Nguyen Pham NT, Nguyen TDA, Nguyen TMN, Le NHP, Pham Nguyen V, Ho Huynh TD. Nguyen TV, et al. Circ J. 2021 Aug 25;85(9):1469-1478. doi: 10.1253/circj.CJ-21-0077. Epub 2021 May 20. Circ J. 2021. PMID: 34011823 Free article.
The diagnostic yield was 23.5%, 44.0% in familial and 19.6% in sporadic DCM.TTNtruncating variants (TTNtv) were predominant (46.4%), followed byTPM1,DSP,LMNA,MYBPC3,MYH6,MYH7,DES,TNNT2,ACTC1,ACTN2,BAG3,DMD,FKTN,PLN,TBX5,RBM20,TCAP(2-6%). Familial DCM, genotype-positive and …
The diagnostic yield was 23.5%, 44.0% in familial and 19.6% in sporadic DCM.TTNtruncating variants (TTNtv) were predominant (46.4%), followe …
The spectrum of hereditary neuromuscular disorders in the Pakistani population.
Akbar F, Saleem SM, Khalid E, Ibrahim S, Afroze B, Kirmani S, Khan S. Akbar F, et al. Am J Med Genet A. 2023 Oct;191(10):2536-2550. doi: 10.1002/ajmg.a.63332. Epub 2023 Jun 27. Am J Med Genet A. 2023. PMID: 37366078
We also report probable founder variants in COL6A2, FKTN, GNE, and SGCB, previously reported in populations that have possible shared ancestry with the Pakistani population. ...
We also report probable founder variants in COL6A2, FKTN, GNE, and SGCB, previously reported in populations that have possible shared …
An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.
Rodrigues M, Echigoya Y, Yokota T. Rodrigues M, et al. Methods Mol Biol. 2025;2964:53-83. doi: 10.1007/978-1-0716-4730-1_3. Methods Mol Biol. 2025. PMID: 40720010 Review.
In hopes of achieving clinical success parallel to DMD, exon skipping and splice modulation are studied in other muscular dystrophies, such as Fukuyama congenital muscular dystrophy (FCMD), dysferlinopathy including limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi …
In hopes of achieving clinical success parallel to DMD, exon skipping and splice modulation are studied in other muscular dystrophies, such …
Ophthalmologic manifestations associated with Fukutin (FKTN) variant subtypes in Korean patients with Fukuyama congenital muscular dystrophy: a single-center retrospective case series.
Lee SJ, Joo HJ, Jo DH, Jung JH, Lee K, Kim JH, Kim SJ, Chae JH. Lee SJ, et al. BMC Ophthalmol. 2025 Nov 4;25(1):616. doi: 10.1186/s12886-025-04432-x. BMC Ophthalmol. 2025. PMID: 41188778 Free PMC article.
BACKGROUND: Fukuyama congenital muscular dystrophy (FCMD) is a severe autosomal recessive alpha-dystroglycanopathy caused by biallelic variants in the FKTN gene, characterized by muscular, neurological, and ocular involvement. This study aimed to evaluate the ophtha …
BACKGROUND: Fukuyama congenital muscular dystrophy (FCMD) is a severe autosomal recessive alpha-dystroglycanopathy caused by bialleli …
Fukutin Protein Participates in Cell Proliferation by Enhancing Cyclin D1 Expression through Binding to the Transcription Factor Activator Protein-1: An In Vitro Study.
Okamura Y, Yamamoto T, Tsukui R, Kato Y, Shibata N. Okamura Y, et al. Int J Mol Sci. 2021 Nov 10;22(22):12153. doi: 10.3390/ijms222212153. Int J Mol Sci. 2021. PMID: 34830034 Free PMC article.
Using cultured astrocytes (1321N1), we found nuclear localization of fukutin and a positive relationship between fukutin expression and cell proliferation. ...It is likely that fukutin is a potential cofactor of AP-1....
Using cultured astrocytes (1321N1), we found nuclear localization of fukutin and a positive relationship between fukutin expre …
31 results