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In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
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.
Conventional method of teaching (CMT) has its own limitations and adoption of innovative methods is need of the hour. METHODS: Study was conducted on II Professional BAMS students in two groups: classes beyond the walls (CBW) group and CMT group. ...
Conventional method of teaching (CMT) has its own limitations and adoption of innovative methods is need of the hour. METHODS: Study was con …
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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
The overall maturation rate was 83.1% (n = 495), 219 fistulas (36.7%) matured primarily and 276 (46.3%) required interventions. 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 …
The overall maturation rate was 83.1% (n = 495), 219 fistulas (36.7%) matured primarily and 276 (46.3%) required interventions. Ninety-one p …
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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 …
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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
BACKGROUND: To examine the effect of office-based duplex-guided balloon-assisted maturation (DG-BAM) on arteriovenous fistula (AVF), we retrospectively analyzed our experience. METHODS: Over the past 10 months, we performed 185 DG-BAMs (range, 1-8 procedures; mean, 3.7) in …
BACKGROUND: To examine the effect of office-based duplex-guided balloon-assisted maturation (DG-BAM) on arteriovenous fistula (AVF), we retr …
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