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Select item 107672851.

Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review

Zheng Zhou, Ye Zhang, Lijing Zhu, Yajuan Cui, Yan Gao, Chuan‐Xiang Zhou

Mol Genet Genomic Med. 2024 Jan; 12(1): e2277. Published online 2023 Aug 30. doi: 10.1002/mgg3.2277

PMCID:: PMC10767285

Article PDF–5.4M

Select item 94768712.

Anoctamin 5 regulates the cell cycle and affects prognosis in gastric cancer

Tomoyuki Fukami, Atsushi Shiozaki, Toshiyuki Kosuga, Michihiro Kudou, Hiroki Shimizu, Takuma Ohashi, Tomohiro Arita, Hirotaka Konishi, Shuhei Komatsu, Takeshi Kubota, Hitoshi Fujiwara, Kazuma Okamoto, Mitsuo Kishimoto, Yukiko Morinaga, Eiichi Konishi, Eigo Otsuji

World J Gastroenterol. 2022 Aug 28; 28(32): 4649–4667. Published online 2022 Aug 28. doi: 10.3748/wjg.v28.i32.4649

PMCID:: PMC9476871

Article PDF–18M

Select item 87798353.

Whole genome sequencing revealed novel ANO5 mutation c.1067G>T (p.C356F) in a big family with atypical gnathodiaphyseal dysplasia

Binghui Zeng, Junkun Liao, Hanqing Zhang, Sha Fu, Weixiong Chen, Guokai Pan, Qunxing Li, Weiliang Chen, Soldano Ferrone, Binghao Wu, Sheng Sun, Jiali Hu, Michael Ho-Young Ahn, Zhaoyu Lin, Dongsheng Yu, Zhanpeng Ou, Xinhui Wang, Fengbo Mo, Nasi Huang, James A. Hamilton, Jinsong Li, Song Fan

Head Neck. Author manuscript; available in PMC 2022 Jan 21.

Published in final edited form as: Head Neck. 2019 Jan; 41(1): 230–238. Published online 2018 Dec 15. doi: 10.1002/hed.25516

PMCID:: PMC8779835

Article PDF–870K

Select item 71318414.

Genetic association analysis identifies a role for ANO5 in prostate cancer progression

Chia‐Cheng Yu, Lih‐Chyang Chen, Chao‐Yuan Huang, Victor C. Lin, Te‐Ling Lu, Cheng‐Hsueh Lee, Shu‐Pin Huang, Bo‐Ying Bao

Cancer Med. 2020 Apr; 9(7): 2372–2378. Published online 2020 Feb 6. doi: 10.1002/cam4.2909

PMCID:: PMC7131841

Article PDF–650K

Select item 66877365.

ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure

Adam Jarmula, Anna Łusakowska, Jakub P. Fichna, Malgorzata Topolewska, Anna Macias, Katherine Johnson, Ana Töpf, Volker Straub, Edyta Rosiak, Krzysztof Szczepaniak, Stanisław Dunin-Horkawicz, Aleksandra Maruszak, Anna M. Kaminska, Maria Jolanta Redowicz

Sci Rep. 2019; 9: 11533. Published online 2019 Aug 8. doi: 10.1038/s41598-019-47849-3

PMCID:: PMC6687736

Article PDF–3.4M

Select item 63802136.

Lifting the veils on TMEM16E function

Anna Boccaccio, Eleonora Di Zanni, Antonella Gradogna, Joachim Scholz-Starke

Channels (Austin) 2019; 13(1): 33–35. Published online 2019 Jan 17. doi: 10.1080/19336950.2018.1557470

PMCID:: PMC6380213

Article PDF–759K

Select item 61602177.

First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features

Bolin Hu, Li Xiong, Yibiao Zhou, Xiaoqing Lu, Qianqian Xiong, Qing Liu, Xueliang Qi, Weijiang Ding

Medicine (Baltimore) 2018 Sep; 97(38): e12506. Published online 2018 Sep 21. doi: 10.1097/MD.0000000000012506

PMCID:: PMC6160217

Article PDF–595K

Select item 58974908.

Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia

Eleonora Di Zanni, Antonella Gradogna, Joachim Scholz-Starke, Anna Boccaccio

Cell Mol Life Sci. 2018; 75(9): 1657–1670. Published online 2017 Nov 9. doi: 10.1007/s00018-017-2704-9

PMCID:: PMC5897490

Article PDF–3.3M

Select item 52968369.

Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia

Lingling Jin, Yi Liu, Fanyue Sun, Michael T. Collins, Keith Blackwell, Albert S. Woo, Ernst J. Reichenberger, Ying Hu

Sci Rep. 2017; 7: 40935. Published online 2017 Feb 8. doi: 10.1038/srep40935

PMCID:: PMC5296836

Article PDF–1.5M

Select item 487763810.

Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies

T. V. Andreeva, T. V. Tyazhelova, V. N. Rykalina, F. E. Gusev, A. Yu. Goltsov, O. I. Zolotareva, M. P. Aliseichik, T. A. Borodina, A. P. Grigorenko, D. A. Reshetov, E. K. Ginter, S. S. Amelina, R. A. Zinchenko, E. I. Rogaev

Sci Rep. 2016; 6: 26440. Published online 2016 May 24. doi: 10.1038/srep26440

PMCID:: PMC4877638

Article PDF–1.5M

Select item 450243911.

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

Marco Savarese, Giuseppina Di Fruscio, Giorgio Tasca, Lucia Ruggiero, Sandra Janssens, Jan De Bleecker, Marc Delpech, Olimpia Musumeci, Antonio Toscano, Corrado Angelini, Sabrina Sacconi, Lucio Santoro, Enzo Ricci, Kathleen Claes, Luisa Politano, Vincenzo Nigro

Neuromuscul Disord. 2015 Jul; 25(7): 533–541. doi: 10.1016/j.nmd.2015.03.011

PMCID:: PMC4502439

Article

Select item 420677612.

A new distal myopathy with mutation in anoctamin 5

Ibrahim Mahjneh, Jyoti Jaiswal, Antti Lamminen, Mirja Somer, Gareth Marlow, Sari Kiuru-Enari, Rumaisa Bashir

Neuromuscul Disord. Author manuscript; available in PMC 2014 Oct 23.

Published in final edited form as: Neuromuscul Disord. 2010 Dec; 20(12): 791–795. Published online 2010 Aug 7. doi: 10.1016/j.nmd.2010.07.270

PMCID:: PMC4206776

Article PDF–1.3M

Select item 403851213.

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Debbie Hicks, Anna Sarkozy, Nuria Muelas, Katrin Köehler, Angela Huebner, Gavin Hudson, Patrick F. Chinnery, Rita Barresi, Michelle Eagle, Tuomo Polvikoski, Geraldine Bailey, James Miller, Aleksander Radunovic, Paul J. Hughes, Richard Roberts, Sabine Krause, Maggie C. Walter, Steven H. Laval, Volker Straub, Hanns Lochmüller, Kate Bushby

Brain. Author manuscript; available in PMC 2014 May 29.

Published in final edited form as: Brain. 2011 Jan; 134(0 1): 171–182. doi: 10.1093/brain/awq294

PMCID:: PMC4038512

Article PDF–2.4M

Select item 389077014.

Macular dystrophy presenting in one of two siblings with limb-girdle muscular dystrophy type 2L due to mutation of ANO5

S Vaz-Pereira, K Dansingani, G E Holder, A R Webster

Eye (Lond) 2014 Jan; 28(1): 102–104. Published online 2013 Nov 15. doi: 10.1038/eye.2013.247

PMCID:: PMC3890770

Article PDF–1.3M

Select item 118212615.

GDD1 Is Identical to TMEM16E, a Member of the TMEM16 Family

Masuko Katoh, Masaru Katoh

Am J Hum Genet. 2004 Nov; 75(5): 927–928. doi: 10.1086/425341

PMCID:: PMC1182126

Article PDF–212K

Select item 784442616.

ANO5 ensures trafficking of annexins in wounded myofibers

Steven J. Foltz, Yuan Yuan Cui, Hyojung J. Choo, H. Criss Hartzell

J Cell Biol. 2021 Mar 1; 220(3): e202007059. Published online 2021 Jan 26. doi: 10.1083/jcb.202007059

PMCID:: PMC7844426

Article PDF–6.7M

Select item 621969317.

Anoctamin 5/TMEM16E facilitates muscle precursor cell fusion

Jarred M. Whitlock, Kuai Yu, Yuan Yuan Cui, H. Criss Hartzell

J Gen Physiol. 2018 Nov 5; 150(11): 1498–1509. doi: 10.1085/jgp.201812097

PMCID:: PMC6219693

Article PDF–2.0M

Select item 506258118.

Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy

Danielle A. Griffin, Ryan W. Johnson, Jarred M. Whitlock, Eric R. Pozsgai, Kristin N. Heller, William E. Grose, W. David Arnold, Zarife Sahenk, H. Criss Hartzell, Louise R. Rodino-Klapac

Hum Mol Genet. 2016 May 15; 25(10): 1900–1911. Published online 2016 Feb 23. doi: 10.1093/hmg/ddw063

PMCID:: PMC5062581

Article PDF–1.1M

Select item 365819319.

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

Caterina Marconi, Paolo Brunamonti Binello, Giovanni Badiali, Emanuela Caci, Roberto Cusano, Joseph Garibaldi, Tommaso Pippucci, Alberto Merlini, Claudio Marchetti, Kerry J Rhoden, Luis J V Galietta, Faustina Lalatta, Paolo Balbi, Marco Seri

Eur J Hum Genet. 2013 Jun; 21(6): 613–619. Published online 2012 Oct 10. doi: 10.1038/ejhg.2012.224

PMCID:: PMC3658193

Article PDF–1.1M

Select item 350069220.

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

Francesca Magri, Roberto Del Bo, Maria Grazia D’Angelo, Monica Sciacco, Sandra Gandossini, Alessandra Govoni, Laura Napoli, Patrizia Ciscato, Francesco Fortunato, Erika Brighina, Sara Bonato, Andreina Bordoni, Valeria Lucchini, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Giacomo Pietro Comi

Neuromuscul Disord. 2012 Nov; 22(11): 934–943. doi: 10.1016/j.nmd.2012.05.001

PMCID:: PMC3500692

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