PMC Articles for MedGen (Select 907910) - PMC

Select item 87252061.

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)

Kristen K. Rosano, Daniel J. Wegner, Marwan Shinawi, Dustin Baldridge, Robert C. Bucelli, Sonika Dahiya, Frances V. White, Marcia C. Willing, William McAllister, Ryan J. Taft, Krista Bluske, Amanda Buchanan, Francis Sessions Cole, Jennifer A. Wambach

Am J Med Genet A. Author manuscript; available in PMC 2022 Jul 1.

Published in final edited form as: Am J Med Genet A. 2021 Jul; 185(7): 2190–2197. Published online 2021 May 1. doi: 10.1002/ajmg.a.62219

PMCID:: PMC8725206

Abstract Article PDF–1.1M

Select item 103484812.

Investigating the role of ASCC1 in the causation of bone fragility

Barbara Voraberger, Johannes A. Mayr, Nadja Fratzl-Zelman, Stéphane Blouin, Suma Uday, Robert Kopajtich, Marijke Koedam, Helena Hödlmayr, Saskia B. Wortmann, Bernhard Csillag, Holger Prokisch, Bram C. J. van der Eerden, Ahmed El-Gazzar, Wolfgang Högler

Front Endocrinol (Lausanne) 2023; 14: 1137573. Published online 2023 Jun 30. doi: 10.3389/fendo.2023.1137573

PMCID:: PMC10348481

Abstract Article PDF–6.7M

Select item 72168003.

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship

Weiliang Lu, Mingxing Liang, Jiasun Su, Jin Wang, Lingxiao Li, Shujie Zhang, Zailong Qin, Limei Huang, Yingchi Lu, Shang Yi, Sheng Yi, BoBo Xie, Haiyang Zheng, Jingsi Luo, Xiaoyan Gao, Yiping Shen

Mol Genet Genomic Med. 2020 May; 8(5): e1212. Published online 2020 Mar 11. doi: 10.1002/mgg3.1212

PMCID:: PMC7216800

Abstract Article PDF–863K

Select item 48000374.

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

Ellen Knierim, Hiromi Hirata, Nicole I. Wolf, Susanne Morales-Gonzalez, Gudrun Schottmann, Yu Tanaka, Sabine Rudnik-Schöneborn, Mickael Orgeur, Klaus Zerres, Stefanie Vogt, Anne van Riesen, Esther Gill, Franziska Seifert, Angelika Zwirner, Janbernd Kirschner, Hans Hilmar Goebel, Christoph Hübner, Sigmar Stricker, David Meierhofer, Werner Stenzel, Markus Schuelke

Am J Hum Genet. 2016 Mar 3; 98(3): 473–489. Published online 2016 Feb 25. doi: 10.1016/j.ajhg.2016.01.006

PMCID:: PMC4800037

Abstract Article PDF–5.9M

Select item 27913365.

Bone loss in survival motor neuron (Smn^−/−SMN2) genetic mouse model of spinal muscular atrophy

Srinivasan Shanmugarajan, Eichi Tsuruga, Kathryn J Swoboda, Bernard L Maria, William L Ries, Sakamuri V Reddy

J Pathol. Author manuscript; available in PMC 2009 Dec 10.

Published in final edited form as: J Pathol. 2009 Sep; 219(1): 52–60. doi: 10.1002/path.2566

PMCID:: PMC2791336

Abstract Article PDF–683K

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