PMC Articles for MedGen (Select 869186) - PMC

Select item 82004401.

Transferrin receptor 1 ablation in satellite cells impedes skeletal muscle regeneration through activation of ferroptosis

Hongrong Ding, Shujie Chen, Xiaohan Pan, Xiaoshuang Dai, Guihua Pan, Ze Li, Xudong Mai, Ye Tian, Susu Zhang, Bingdong Liu, Guangchao Cao, Zhicheng Yao, Xiangping Yao, Liang Gao, Li Yang, Xiaoyan Chen, Jia Sun, Hong Chen, Mulan Han, Yulong Yin, Guohuan Xu, Huijun Li, Weidong Wu, Zheng Chen, Jingchao Lin, Liping Xiang, Jun Hu, Yan Lu, Xiao Zhu, Liwei Xie

J Cachexia Sarcopenia Muscle. 2021 Jun; 12(3): 746–768. Published online 2021 May 6. doi: 10.1002/jcsm.12700

PMCID:: PMC8200440

Article PDF–52M

Select item 77801582.

Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome

Cathleen Lawson, Karin J. Blakemore, Rebecca Ryan, Jody E. Hooper, Michael Tsimis, Angie Jelin

Am J Med Genet A. Author manuscript; available in PMC 2021 Jan 4.

Published in final edited form as: Am J Med Genet A. 2020 Jul; 182(7): 1812–1814. Published online 2020 May 22. doi: 10.1002/ajmg.a.61624

PMCID:: PMC7780158

Article PDF–259K

Select item 62031933.

Poland syndrome accompanied by internal iliac artery supply disruption sequence: a case report

Kenji Gonda, Yosuke Tachiya, Yuichi Hatakeyama, Tomoyuki Momma, Tomoko Tamaoki, Yuko Maejima, Yuichi Rokkaku, Shigehira Saji, Kenju Shimomura, Koji Kono

J Med Case Rep. 2018; 12: 312. Published online 2018 Oct 26. doi: 10.1186/s13256-018-1823-8

PMCID:: PMC6203193

Article PDF–3.7M

Select item 58034184.

Rare copy number variants identified in prune belly syndrome

Nansi S. Boghossian, Robert J. Sicko, Andreas Giannakou, Aggeliki Dimopoulos, Michele Caggana, Michael Y. Tsai, Edwina H. Yeung, Nathan Pankratz, Benjamin R. Cole, Paul A. Romitti, Marilyn L. Browne, Ruzong Fan, Aiyi Liu, Denise M. Kay, James L. Mills

Eur J Med Genet. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: Eur J Med Genet. 2018 Mar; 61(3): 145–151. Published online 2017 Nov 23. doi: 10.1016/j.ejmg.2017.11.008

PMCID:: PMC5803418

Article PDF–1.1M

Select item 55048605.

Spatial pattern analysis of nuclear migration in remodelled muscles during Drosophila metamorphosis

Kuleesha, Lin Feng, Martin Wasser

BMC Bioinformatics. 2017; 18: 329. Published online 2017 Jul 10. doi: 10.1186/s12859-017-1739-0

PMCID:: PMC5504860

Article PDF–4.1M

Select item 53268266.

Toll‐like receptor 4 signalling mediates inflammation in skeletal muscle of patients with chronic kidney disease

Daniela Verzola, Alice Bonanni, Antonella Sofia, Fabrizio Montecucco, Elena D'Amato, Valeria Cademartori, Emanuele Luigi Parodi, Francesca Viazzi, Chiara Venturelli, Giuliano Brunori, Giacomo Garibotto

J Cachexia Sarcopenia Muscle. 2017 Feb; 8(1): 131–144. Published online 2016 Oct 18. doi: 10.1002/jcsm.12129

PMCID:: PMC5326826

Article PDF–847K

Select item 39901647.

Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot–Marie–Tooth type 2D mice

James N. Sleigh, Stuart J. Grice, Robert W. Burgess, Kevin Talbot, M. Zameel Cader

Hum Mol Genet. 2014 May 15; 23(10): 2639–2650. Published online 2013 Dec 23. doi: 10.1093/hmg/ddt659

PMCID:: PMC3990164

Article PDF–960K

Select item 34091548.

Loss of Abdominal Muscle in Pitx2 Mutants Associated with Altered Axial Specification of Lateral Plate Mesoderm

Diana Eng, Hsiao-Yen Ma, Jun Xu, Hung-Ping Shih, Michael K. Gross, Chrissa Kiouss

PLoS One. 2012; 7(7): e42228. Published online 2012 Jul 31. doi: 10.1371/journal.pone.0042228

Correction in:: PLoS One. 2012; 7(10): 10.1371/annotation/c980d5a1-1899-4d30-af7b-573d4049cf4b.

PMCID:: PMC3409154

Article PDF–9.6M

Select item 33273559.

Cryptorchidism in Mice with an Androgen Receptor Ablation in Gubernaculum Testis

Elena M. Kaftanovskaya, Zaohua Huang, Agustin M. Barbara, Karel De Gendt, Guido Verhoeven, Ivan P. Gorlov, Alexander I. Agoulnik

Mol Endocrinol. 2012 Apr; 26(4): 598–607. Published online 2012 Feb 9. doi: 10.1210/me.2011-1283

PMCID:: PMC3327355

Article

Select item 331263610.

Deletion of growth hormone receptor gene but not visceral fat removal decreases expression of apoptosis-related genes in the kidney—potential mechanism of lifespan extension

Adam Gesing, Michal M. Masternak, Feiya Wang, Malgorzata Karbownik-Lewinska, Andrzej Bartke

Age (Dordr) 2012 Apr; 34(2): 295–304. Published online 2011 Mar 23. doi: 10.1007/s11357-011-9232-6

PMCID:: PMC3312636

Article PDF–304K

Select item 297896011.

MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes

Asli Sirmaci, Tom Walsh, Hatice Akay, Michail Spiliopoulos, Yıldırım Bayezit Şakalar, Aylin Hasanefendioğlu-Bayrak, Duygu Duman, Amjad Farooq, Mary-Claire King, Mustafa Tekin

Am J Hum Genet. 2010 Nov 12; 87(5): 679–686. doi: 10.1016/j.ajhg.2010.09.018

PMCID:: PMC2978960

Article PDF–1000K

Select item 266874312.

A Single Nucleotide Polymorphism in the Promoter of the LOXL1 Gene and Its Relationship to Pelvic Organ Prolapse and Preterm Premature Rupture of Membranes

Georgia Ferrell, Minyan Lu, Paul Stoddard, Mary D. Sammel, Roberto Romero, Jerome F. Strauss, III, Catherine A. Matthews

Reprod Sci. Author manuscript; available in PMC 2010 May 1.

Published in final edited form as: Reprod Sci. 2009 May; 16(5): 438–446. Published online 2009 Jan 30. doi: 10.1177/1933719108330567

PMCID:: PMC2668743

Article PDF–106K

Select item 217222213.

Esophageal muscle physiology and morphogenesis require assembly of a collagen XIX–rich basement membrane zone

Hideaki Sumiyoshi, Niv Mor, Sui Y. Lee, Stephen Doty, Scott Henderson, Shizuko Tanaka, Hidekatsu Yoshioka, Satish Rattan, Francesco Ramirez

J Cell Biol. 2004 Aug 16; 166(4): 591–600. doi: 10.1083/jcb.200402054

PMCID:: PMC2172222

Article PDF–5.1M

Select item 191348914.

Muscle-specific knockout of PKC-λ impairs glucose transport and induces metabolic and diabetic syndromes

Robert V. Farese, Mini P. Sajan, Hong Yang, Pengfei Li, Steven Mastorides, William R. Gower, Jr., Sonali Nimal, Cheol Soo Choi, Sheene Kim, Gerald I. Shulman, C. Ronald Kahn, Ursula Braun, Michael Leitges

J Clin Invest. 2007 Aug 1; 117(8): 2289–2301. Published online 2007 Jul 19. doi: 10.1172/JCI31408