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132 results

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POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.
Gan S, Yang H, Xiao T, Pan Z, Wu L. Gan S, et al. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Aug 28;46(8):915-919. doi: 10.11817/j.issn.1672-7347.2021.200067. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021. PMID: 34565739 Free PMC article. Chinese, English.
Genetic test showed that both patients had compound heterozygous mutations, and the parents of the 2 patients were heterozygous with one of the mutations. There were c.824+1G>A, splicing and c.1777G>A, p.A593T in POMT1 gene, and c.604T>G, p.F202V and c.868C …
Genetic test showed that both patients had compound heterozygous mutations, and the parents of the 2 patients were heterozygous with one of …
Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.
Hu P, Yuan L, Deng H. Hu P, et al. Mutat Res Rev Mutat Res. 2018 Oct-Dec;778:45-50. doi: 10.1016/j.mrrev.2018.09.002. Epub 2018 Sep 12. Mutat Res Rev Mutat Res. 2018. PMID: 30454682 Review.
Mutations in the coding gene, POMT1, have been described to be related to a series of autosomal recessive disorders associated with defective alpha-dystroglycan glycosylation, later termed muscular dystrophy-dystroglycanopathies (MDDGs). ...In this review, we highli …
Mutations in the coding gene, POMT1, have been described to be related to a series of autosomal recessive disorders associated …
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.
Larsen ISB, Povolo L, Zhou L, Tian W, Mygind KJ, Hintze J, Jiang C, Hartill V, Prescott K, Johnson CA, Mullegama SV, McConkie-Rosell A, McDonald M, Hansen L, Vakhrushev SY, Schjoldager KT, Clausen H, Worzfeld T, Joshi HJ, Halim A. Larsen ISB, et al. Proc Natl Acad Sci U S A. 2023 May 23;120(21):e2302584120. doi: 10.1073/pnas.2302584120. Epub 2023 May 15. Proc Natl Acad Sci U S A. 2023. PMID: 37186866 Free PMC article.
Mutations in the TMEM260 gene cause structural heart defects and renal anomalies syndrome, but the function of the encoded protein remains unknown. ...Here, we report that the TMEM260 gene encodes an ER-located protein O-mannosyltransferase that selectively glycosyl …
Mutations in the TMEM260 gene cause structural heart defects and renal anomalies syndrome, but the function of the encoded protein re …
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA. Megarbane A, et al. J Neuromuscul Dis. 2022;9(1):193-210. doi: 10.3233/JND-210652. J Neuromuscul Dis. 2022. PMID: 34602496 Free PMC article.
RESULTS: A total of 506 patients were diagnosed with 62 different disorders encompassing 10 classes of NMDs. 103 variants in 49 genes were identified. In this cohort, 81.4% of patients were diagnosed with motor neuron diseases and muscular dystrophies, with almost half of …
RESULTS: A total of 506 patients were diagnosed with 62 different disorders encompassing 10 classes of NMDs. 103 variants in 49 genes …
Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
Ganassi M, Zammit PS. Ganassi M, et al. Eur J Transl Myol. 2022 Mar 18;32(1):10064. doi: 10.4081/ejtm.2022.10064. Eur J Transl Myol. 2022. PMID: 35302338 Free PMC article.
Here, we expand the portfolio of Satellite Cell-opathies by evaluating the potential impairment of satellite cell function across all 16 categories of neuromuscular disorders, including those with mainly neurogenic and cardiac involvement. We explore the expression dynamics of my …
Here, we expand the portfolio of Satellite Cell-opathies by evaluating the potential impairment of satellite cell function across all 16 cat …
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty S, Nallamilli BRR, Khadilkar SV, Singla MB, Bhutada A, Dastur R, Gaitonde PS, Rufibach LE, Gloster L, Hegde M. Chakravorty S, et al. Front Neurol. 2020 Nov 5;11:559327. doi: 10.3389/fneur.2020.559327. eCollection 2020. Front Neurol. 2020. PMID: 33250842 Free PMC article.
Our goal was to determine for the first time the clinical- and gene-variant spectrum of genetic myopathies in a substantial cohort study of the Indian subcontinent. ...Thirteen patients harbored pathogenic variants in >1 gene and had unusual clinical features sug …
Our goal was to determine for the first time the clinical- and gene-variant spectrum of genetic myopathies in a substantial cohort st …
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Conte F, Sam JE, Lefeber DJ, Passier R. Conte F, et al. Int J Mol Sci. 2023 May 11;24(10):8632. doi: 10.3390/ijms24108632. Int J Mol Sci. 2023. PMID: 37239976 Free PMC article. Review.
HF can be caused by cardiomyopathies and congenital cardiac defects with monogenic etiology. The number of genes and monogenic disorders linked to development of cardiac defects is constantly growing and includes inherited metabolic disorders (IMDs). ...We identified 58 IM …
HF can be caused by cardiomyopathies and congenital cardiac defects with monogenic etiology. The number of genes and monogenic disord …
Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.
Willer T, Prados B, Falcón-Pérez JM, Renner-Müller I, Przemeck GK, Lommel M, Coloma A, Valero MC, de Angelis MH, Tanner W, Wolf E, Strahl S, Cruces J. Willer T, et al. Proc Natl Acad Sci U S A. 2004 Sep 28;101(39):14126-31. doi: 10.1073/pnas.0405899101. Epub 2004 Sep 21. Proc Natl Acad Sci U S A. 2004. PMID: 15383666 Free PMC article.
During embryogenesis, the murine Pomt1 gene is prominently expressed in the neural tube, the developing eye, and the mesenchyme. These sites of expression correlate with those in which the main tissue alterations are observed in WWS patients. We have inactivated a …
During embryogenesis, the murine Pomt1 gene is prominently expressed in the neural tube, the developing eye, and the mesenchym …
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H. Geis T, et al. Orphanet J Rare Dis. 2019 Jul 16;14(1):179. doi: 10.1186/s13023-019-1119-0. Orphanet J Rare Dis. 2019. PMID: 31311558 Free PMC article.
BACKGROUND: The protein O-mannosyltransferase 1, encoded by the POMT1 gene, is a key enzyme in the glycosylation of alpha-dystroglycan. ...The presence of an occipital encephalocele in a WWS patient might point to POMT1 as causative gene within the dif …
BACKGROUND: The protein O-mannosyltransferase 1, encoded by the POMT1 gene, is a key enzyme in the glycosylation of alpha-dyst …
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.
Hu P, Wu S, Yuan L, Lin Q, Zheng W, Xia H, Xu H, Guan L, Deng H. Hu P, et al. J Cell Mol Med. 2017 Jul;21(7):1388-1393. doi: 10.1111/jcmm.13068. Epub 2017 Feb 3. J Cell Mol Med. 2017. PMID: 28157257 Free PMC article.
The POMT1 gene splice-site mutation (c.1338+1G>A) which leads to exon 13 skipping and results in a truncated protein may contribute to a severe phenotype, while the allelic missense mutation (p.W486S) may reduce MDDG severity. These findings may expand phenotype …
The POMT1 gene splice-site mutation (c.1338+1G>A) which leads to exon 13 skipping and results in a truncated protein may co …
132 results