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In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Laberthonnière C, Delourme M, Chevalier R, Dion C, Ganne B, Hirst D, Caron L, Perrin P, Adélaïde J, Chaffanet M, Xue S, Nguyen K, Reversade B, Déjardin J, Baudot A, Robin JD, Magdinier F. Laberthonnière C, et al. Nucleic Acids Res. 2023 Aug 11;51(14):7269-7287. doi: 10.1093/nar/gkad523. Nucleic Acids Res. 2023. PMID: 37334829 Free PMC article.
To fill this gap, we determined the episignature associated with heterozygous SMCHD1 variants in primary cells and cell lineages derived from induced pluripotent stem cells for Bosma arhinia and microphthalmia syndrome (BAMS) and type 2 facioscapulohumeral dystrophy (FSHD2 …
To fill this gap, we determined the episignature associated with heterozygous SMCHD1 variants in primary cells and cell lineages derived fro …
"Classes beyond the walls" - A reexploring method of teaching in ayurveda education over conventional approach.
Gadad GG, Holeyache AB. Gadad GG, et al. J Ayurveda Integr Med. 2023 May-Jun;14(3):100724. doi: 10.1016/j.jaim.2023.100724. Epub 2023 May 31. J Ayurveda Integr Med. 2023. PMID: 37267855 Free PMC article.
METHODS: Study was conducted on II Professional BAMS students in two groups: classes beyond the walls (CBW) group and CMT group. Integrated collaborative CBW teaching in medicinal plant garden and CMT in regular classrooms of institutional set up were conducted. ...
METHODS: Study was conducted on II Professional BAMS students in two groups: classes beyond the walls (CBW) group and CMT group. Inte …
Maturation Rates of Arteriovenous Fistulas Using Small Veins in the Era of Endovascular Interventions.
Wang B, Rao A, Pappas K, Silpe J, Garlapati A, Talathi S, Mussa F, Landis GS, Etkin Y. Wang B, et al. Ann Vasc Surg. 2021 Feb;71:208-214. doi: 10.1016/j.avsg.2020.08.109. Epub 2020 Sep 3. Ann Vasc Surg. 2021. PMID: 32890643
Ninety-one percent of the patients required only 1 or 2 BAMs to achieve maturation. The SVG achieved a maturation rate of 75.9% as compared with 87.1% in the LVG (P = 0.002). A significantly higher number of patients in the SVG required BAM for maturation as compared with …
Ninety-one percent of the patients required only 1 or 2 BAMs to achieve maturation. The SVG achieved a maturation rate of 75.9% as co …
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Dion C, Roche S, Laberthonnière C, Broucqsault N, Mariot V, Xue S, Gurzau AD, Nowak A, Gordon CT, Gaillard MC, El-Yazidi C, Thomas M, Schlupp-Robaglia A, Missirian C, Malan V, Ratbi L, Sefiani A, Wollnik B, Binetruy B, Salort Campana E, Attarian S, Bernard R, Nguyen K, Amiel J, Dumonceaux J, Murphy JM, Déjardin J, Blewitt ME, Reversade B, Robin JD, Magdinier F. Dion C, et al. Nucleic Acids Res. 2019 Apr 8;47(6):2822-2839. doi: 10.1093/nar/gkz005. Nucleic Acids Res. 2019. PMID: 30698748 Free PMC article.
Among them, SMCHD1 (Structural Maintenance of Chromosomes Hinge Domain Containing 1) has been of major interest following identification of germline mutations in Facio-Scapulo-Humeral Dystrophy (FSHD) and in an unrelated developmental disorder, Bosma Arhinia Microphthalmia Syndro …
Among them, SMCHD1 (Structural Maintenance of Chromosomes Hinge Domain Containing 1) has been of major interest following identification of …
Clinical experience with office-based duplex-guided balloon-assisted maturation of arteriovenous fistulas for hemodialysis.
Gallagher JJ, Boniscavage P, Ascher E, Hingorani A, Marks N, Shiferson A, Jung D, Jimenez R, Novak D, Jacob T. Gallagher JJ, et al. Ann Vasc Surg. 2012 Oct;26(7):982-4. doi: 10.1016/j.avsg.2012.01.009. Epub 2012 Jun 26. Ann Vasc Surg. 2012. PMID: 22743218
METHODS: Over the past 10 months, we performed 185 DG-BAMs (range, 1-8 procedures; mean, 3.7) in 45 patients (29 male, 16 female; mean age, 68.2 12.8 years) with 31 radial-cephalic, 7 brachial-cephalic, and 7 brachial-basilic AVFs. ...
METHODS: Over the past 10 months, we performed 185 DG-BAMs (range, 1-8 procedures; mean, 3.7) in 45 patients (29 male, 16 female; mea …