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Elimination of fukutin reveals cellular and molecular pathomechanisms in muscular dystrophy-associated heart failure.
Ujihara Y, Kanagawa M, Mohri S, Takatsu S, Kobayashi K, Toda T, Naruse K, Katanosaka Y. Ujihara Y, et al. Nat Commun. 2019 Dec 17;10(1):5754. doi: 10.1038/s41467-019-13623-2. Nat Commun. 2019. PMID: 31848331 Free PMC article.
Here, we show the detailed molecular pathogenesis of muscular dystrophy-associated cardiomyopathy in mice lacking the fukutin gene (Fktn), the causative gene for Fukuyama muscular dystrophy. ...During young adulthood, Fktn-deficient mice were vulnerable to pa …
Here, we show the detailed molecular pathogenesis of muscular dystrophy-associated cardiomyopathy in mice lacking the fukutin gene ( …
Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy.
Bazrafshan S, Kushlaf H, Kakroo M, Quinlan J, Becker RC, Sadayappan S. Bazrafshan S, et al. Cells. 2021 Feb 8;10(2):349. doi: 10.3390/cells10020349. Cells. 2021. PMID: 33567613 Free PMC article.
Novel associations were uncovered in the following eight patients diagnosed with Limb-girdle Muscular Dystrophy, Bethlem Myopathy, Necrotizing Myopathy, Charcot-Marie-Tooth Disease, Peripheral Polyneuropathy, and Valosin-containing Protein-related Myopathy. Mutations in COL6A1, C …
Novel associations were uncovered in the following eight patients diagnosed with Limb-girdle Muscular Dystrophy, Bethlem Myopathy, Necrotizi …
Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants.
Henriques SF, Gicquel E, Marsolier J, Richard I. Henriques SF, et al. Hum Mutat. 2019 Oct;40(10):1874-1885. doi: 10.1002/humu.23827. Epub 2019 Jul 3. Hum Mutat. 2019. PMID: 31268217 Free article.
Genetic variants in Fukutin-related protein (FKRP), an essential enzyme of the glycosylation pathway of alpha-dystroglycan, can lead to pathologies with different severities affecting the eye, brain, and muscle tissues. ...
Genetic variants in Fukutin-related protein (FKRP), an essential enzyme of the glycosylation pathway of alpha-dystroglycan, can lead …
Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy.
Sato T, Awano H, Ishiguro K, Shichiji M, Murakami T, Shirakawa T, Matsuo M, Nagata S, Ishigaki K. Sato T, et al. Neuromuscul Disord. 2021 Mar;31(3):194-197. doi: 10.1016/j.nmd.2021.01.005. Epub 2021 Jan 13. Neuromuscul Disord. 2021. PMID: 33563515
Fukuyama congenital muscular dystrophy (FCMD) is the second most prevalent childhood-onset muscular dystrophy in Japan. It is an autosomal recessive disorder caused by the fukutin mutation (FKTN), characterized by muscle wasting and brain abnormalities. ...
Fukuyama congenital muscular dystrophy (FCMD) is the second most prevalent childhood-onset muscular dystrophy in Japan. It is an auto …
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
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 …
Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center.
Ko YJ, Cho A, Kim WJ, Kim SY, Lim BC, Kim H, Hwang H, Choi JE, Kim KJ, Chae JH. Ko YJ, et al. Neuromuscul Disord. 2023 May;33(5):425-431. doi: 10.1016/j.nmd.2023.03.009. Epub 2023 Mar 23. Neuromuscul Disord. 2023. PMID: 37087885
Homozygous or compound heterozygous variants were detected in 37 patients belonging to 34 unrelated families (37/42; 88.1%). Pathogenic variants were identified in FKTN (n = 24), POMGNT1 (n = 4), GMPPB (n = 4), FKRP (n = 2), POMT1 (n = 2), and ISPD (n = 1). Compound hetero …
Homozygous or compound heterozygous variants were detected in 37 patients belonging to 34 unrelated families (37/42; 88.1%). Pathogenic vari …
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
Upon further genotype-phenotype correlation and family segregation analysis, the diagnostic yield improved, with 59 (52.7%) patients reaching a diagnosis of a hereditary NMD. We also report probable founder variants in COL6A2, FKTN, GNE, and SGCB, previously reported in po …
Upon further genotype-phenotype correlation and family segregation analysis, the diagnostic yield improved, with 59 (52.7%) patients reachin …
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 …
Molecular carcinogenesis of gastric cancer: Lauren classification, mucin phenotype expression, and cancer stem cells.
Oue N, Sentani K, Sakamoto N, Uraoka N, Yasui W. Oue N, et al. Int J Clin Oncol. 2019 Jul;24(7):771-778. doi: 10.1007/s10147-019-01443-9. Epub 2019 Apr 12. Int J Clin Oncol. 2019. PMID: 30980196 Review.
TP53 mutation, deletion of APC, and DNA methylation of MGMT are detected frequently in the intestinal mucin phenotype. FKTN is overexpressed in the intestinal mucin phenotype, and IQGAP3 is overexpressed in the gastric mucin phenotype. ...
TP53 mutation, deletion of APC, and DNA methylation of MGMT are detected frequently in the intestinal mucin phenotype. FKTN is overex …
Characterizing modifier genes of cardiac fibrosis phenotype in hypertrophic cardiomyopathy.
Xu F, Chen Y, Tillman KA, Cui Y, Williams RW, Bhattacharya SK, Lu L, Sun Y. Xu F, et al. Int J Cardiol. 2021 May 1;330:135-141. doi: 10.1016/j.ijcard.2021.01.047. Epub 2021 Jan 30. Int J Cardiol. 2021. PMID: 33529666 Free PMC article.
Cardiac Nek6 mRNA levels are significantly correlated with CCVF. Nipsnap3b and Fktn are lead candidate genes for the Chr 4 locus, and both are also highly expressed in heart. ...Nek6 and Nr6a1 are strong candidates in males, while Nipsnap3b and Fktn are top candidat …
Cardiac Nek6 mRNA levels are significantly correlated with CCVF. Nipsnap3b and Fktn are lead candidate genes for the Chr 4 locus, and …
47 results