PMC Links for OMIM (Select 613629) - PMC

Select item 65639131.

PIEZOs Mediate Neuronal Sensing of Blood Pressure and the Baroreceptor Reflex

Wei-Zheng Zeng, Kara L. Marshall, Soohong Min, Ihab Daou, Mark W Chapleau, Francois M Abboud, Stephen D. Liberles, Ardem Patapoutian

Science. Author manuscript; available in PMC 2019 Jun 13.

Published in final edited form as: Science. 2018 Oct 26; 362(6413): 464–467. doi: 10.1126/science.aau6324

PMCID:: PMC6563913

Abstract Article PDF–520K

Select item 61711382.

Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families

Shan Li, Yi You, Jinsong Gao, Bin Mao, Yixuan Cao, Xiuli Zhao, Xue Zhang

BMC Med Genet. 2018; 19: 179. Published online 2018 Oct 3. doi: 10.1186/s12881-018-0692-8

PMCID:: PMC6171138

Abstract Article PDF–2.7M

Select item 61141293.

Piezo2 channel-Merkel cell signaling modulates the conversion of touch to itch

Jing Feng, Jialie Luo, Pu Yang, Junhui Du, Brian S. Kim, Hongzhen Hu

Science. Author manuscript; available in PMC 2018 Aug 29.

Published in final edited form as: Science. 2018 May 4; 360(6388): 530–533. doi: 10.1126/science.aar5703

PMCID:: PMC6114129

Abstract Article PDF–843K

Select item 59119184.

The Role of PIEZO2 in Human Mechanosensation

Alexander T. Chesler, Marcin Szczot, Diana Bharucha-Goebel, Marta Čeko, Sandra Donkervoort, Claire Laubacher, Leslie H. Hayes, Katharine Alter, Cristiane Zampieri, Christopher Stanley, A. Micheil Innes, Jean K. Mah, Carla M. Grosmann, Nathaniel Bradley, David Nguyen, A. Reghan Foley, Claire E. Le Pichon, Carsten G. Bönnemann

N Engl J Med. Author manuscript; available in PMC 2018 Apr 23.

Published in final edited form as: N Engl J Med. 2016 Oct 6; 375(14): 1355–1364. Published online 2016 Sep 21. doi: 10.1056/NEJMoa1602812

PMCID:: PMC5911918

Abstract Article PDF–1.3M

Select item 52675605.

Piezo2 senses airway stretch and mediates lung inflation-induced apnoea

Keiko Nonomura, Seung-Hyun Woo, Rui B. Chang, Astrid Gillich, Zhaozhu Qiu, Allain G. Francisco, Sanjeev S. Ranade, Stephen D. Liberles, Ardem Patapoutian

Nature. Author manuscript; available in PMC 2018 Jan 12.

Published in final edited form as: Nature. 2017 Jan 12; 541(7636): 176–181. Published online 2016 Dec 21. doi: 10.1038/nature20793

PMCID:: PMC5267560

Abstract Article PDF–6.7M

Select item 50979346.

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

Andrea Delle Vedove, Markus Storbeck, Raoul Heller, Irmgard Hölker, Malavika Hebbar, Anju Shukla, Olafur Magnusson, Sebahattin Cirak, Katta M. Girisha, Mary O’Driscoll, Bart Loeys, Brunhilde Wirth

Am J Hum Genet. 2016 Nov 3; 99(5): 1206–1216. Published online 2016 Oct 27. doi: 10.1016/j.ajhg.2016.09.019

Correction in:: Am J Hum Genet. 2016 Dec 1; 99(6): 1406–1408.

PMCID:: PMC5097934

Abstract Article PDF–2.2M

Select item 43801727.

Piezo2 is the major transducer of mechanical forces for touch sensation in mice

Sanjeev S. Ranade, Seung-Hyun Woo, Adrienne E. Dubin, Rabih A. Moshourab, Christiane Wetzel, Matt Petrus, Jayanti Mathur, Valérie Bégay, Bertrand Coste, James Mainquist, A.J. Wilson, Allain G. Francisco, Kritika Reddy, Zhaozhu Qiu, John N. Wood, Gary R. Lewin, Ardem Patapoutian

Nature. Author manuscript; available in PMC 2015 Jun 4.

Published in final edited form as: Nature. 2014 Dec 4; 516(7529): 121–125. doi: 10.1038/nature13980

PMCID:: PMC4380172

Abstract Article PDF–2.0M

Select item 40973128.

Epidermal Merkel Cells are Mechanosensory Cells that Tune Mammalian Touch Receptors

Srdjan Maksimovic, Masashi Nakatani, Yoshichika Baba, Aislyn M. Nelson, Kara L. Marshall, Scott A. Wellnitz, Pervez Firozi, Seung-Hyun Woo, Sanjeev Ranade, Ardem Patapoutian, Ellen A. Lumpkin

Nature. Author manuscript; available in PMC 2014 Nov 29.

Published in final edited form as: Nature. 2014 May 29; 509(7502): 617–621. Published online 2014 Apr 6. doi: 10.1038/nature13250

PMCID:: PMC4097312

Abstract Article PDF–2.0M

Select item 40675519.

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Margaret J. McMillin, Anita E. Beck, Jessica X. Chong, Kathryn M. Shively, Kati J. Buckingham, Heidi I.S. Gildersleeve, Mariana I. Aracena, Arthur S. Aylsworth, Pierre Bitoun, John C. Carey, Carol L. Clericuzio, Yanick J. Crow, Cynthia J. Curry, Koenraad Devriendt, David B. Everman, Alan Fryer, Kate Gibson, Maria Luisa Giovannucci Uzielli, John M. Graham, Jr., Judith G. Hall, Jacqueline T. Hecht, Randall A. Heidenreich, Jane A. Hurst, Sarosh Irani, Ingrid P.C. Krapels, Jules G. Leroy, David Mowat, Gordon T. Plant, Stephen P. Robertson, Elizabeth K. Schorry, Richard H. Scott, Laurie H. Seaver, Elliott Sherr, Miranda Splitt, Helen Stewart, Constance Stumpel, Sehime G. Temel, David D. Weaver, Margo Whiteford, Marc S. Williams, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Michael J. Bamshad

Am J Hum Genet. 2014 May 1; 94(5): 734–744. doi: 10.1016/j.ajhg.2014.03.015

PMCID:: PMC4067551

Abstract Article PDF–957K

Select item 403962210.

Piezo2 is required for Merkel cell mechanotransduction

Seung-Hyun Woo, Sanjeev Ranade, Andy D. Weyer, Adrienne E. Dubin, Yoshichika Baba, Zhaozhu Qiu, Matt Petrus, Takashi Miyamoto, Kritika Reddy, Ellen A. Lumpkin, Cheryl L. Stucky, Ardem Patapoutian

Nature. Author manuscript; available in PMC 2014 Nov 29.

Published in final edited form as: Nature. 2014 May 29; 509(7502): 622–626. Published online 2014 Apr 6. doi: 10.1038/nature13251

PMCID:: PMC4039622

Abstract Article PDF–2.7M

Select item 360704511.

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

Bertrand Coste, Gunnar Houge, Michael F. Murray, Nathan Stitziel, Michael Bandell, Monica A. Giovanni, Anthony Philippakis, Alexander Hoischen, Gunnar Riemer, Unni Steen, Vidar Martin Steen, Jayanti Mathur, James Cox, Matthew Lebo, Heidi Rehm, Scott T. Weiss, John N. Wood, Richard L. Maas, Shamil R. Sunyaev, Ardem Patapoutian

Proc Natl Acad Sci U S A. 2013 Mar 19; 110(12): 4667–4672. Published online 2013 Mar 4. doi: 10.1073/pnas.1221400110

PMCID:: PMC3607045

Abstract Article PDF–660K

Select item 306243012.

Piezo1 and Piezo2 are essential components of distinct mechanically-activated cation channels

Bertrand Coste, Jayanti Mathur, Manuela Schmidt, Taryn J. Earley, Sanjeev Ranade, Matt J. Petrus, Adrienne E. Dubin, Ardem Patapoutian

Science. Author manuscript; available in PMC 2011 Apr 1.

Published in final edited form as: Science. 2010 Oct 1; 330(6000): 55–60. Published online 2010 Sep 2. doi: 10.1126/science.1193270

PMCID:: PMC3062430

Abstract Article PDF–1.0M

Select item 101705813.

A new form of autosomal dominant arthrogryposis.

M M Lai, M A Tettenborn, J G Hall, L J Smith, A C Berry

J Med Genet. 1991 Oct; 28(10): 701–703. doi: 10.1136/jmg.28.10.701

PMCID:: PMC1017058

Summary Page Browse PDF–718K

Select item 101624214.

Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.

C T Schrander-Stumpel, C J Höweler, A D Reekers, N M De Smet, J G Hall, J P Fryns

J Med Genet. 1993 Jan; 30(1): 78–80. doi: 10.1136/jmg.30.1.78

PMCID:: PMC1016242

Summary Page Browse PDF–1.1M

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