Citations for
1DAIPT, PIEZO2
Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.
Mahmud AA, Nahid NA, Nassif C, Sayeed MS, Ahmed MU, Parveen M, Khalil MI, Islam MM, Nahar Z, Rypens F, Hamdan FF, Rouleau GA, Hasnat A, Michaud JL.
Clin Genet lin Genet. 2016 Sep 8. doi: 10.1111/cge.12850. [Epub ahead of print] 2016
2PIEZO2
The Role of PIEZO2 in Human Mechanosensation.
Chesler AT, Szczot M, Bharucha-Goebel D, Čeko M, Donkervoort S, Laubacher C, Hayes LH, Alter K, Zampieri C, Stanley C, Innes AM, Mah JK, Grosmann CM, Bradley N, Nguyen D, Foley AR, Le Pichon CE, Bönnemann CG.
N Engl J Med 375(14):1355-1364. 2016
3DAIPT, PIEZO2
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Delle Vedove A, Storbeck M, Heller R, Hölker I, Hebbar M, Shukla A, Magnusson O, Cirak S, Girisha KM, O'Driscoll M, Loeys B, Wirth B.
Am J Hum Genet 99(5):1206-1216. doi: 10.1016/j.ajhg.2016.09.019. 2016
4DAIPT, PIEZO2
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Delle Vedove A, Storbeck M, Heller R, Hölker I, Hebbar M, Shukla A, Magnusson O, Cirak S, Girisha KM, O'Driscoll M, Loeys B, Wirth B.
Am J Hum Genet 99(5):1206-1216. doi: 10.1016/j.ajhg.2016.09.019. 2016
5DAIPT, PIEZO2
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Delle Vedove A, Storbeck M, Heller R, Hölker I, Hebbar M, Shukla A, Magnusson O, Cirak S, Girisha KM, O'Driscoll M, Loeys B, Wirth B.
Am J Hum Genet 99(6):1406-1408. doi: 10.1016/j.ajhg.2016.11.009. No abstract available. 2016
6PIEZO2
Mechanosensory hair cells express two molecularly distinct mechanotransduction channels.
Wu Z, Grillet N, Zhao B, Cunningham C, Harkins-Perry S, Coste B, Ranade S, Zebarjadi N, Beurg M, Fettiplace R, Patapoutian A, Müller U.
Nat Neurosci at Neurosci. 2016 Nov 28. doi: 10.1038/nn.4449. [Epub ahead of print] 2016
7PIEZO1, PIEZO2
Touch, Tension, and Transduction - The Function and Regulation of Piezo Ion Channels.
Wu J, Lewis AH, Grandl J.
Trends Biochem Sci rends Biochem Sci. 2016 Oct 12. pii: S0968-0004(16)30150-5. doi: 10.1016/j.tibs.2016.09.004. [Epub ahead of print] Review. 2016
8AMCD3, PIEZO2
Familial Gordon syndrome associated with a PIEZO2 mutation.
Alisch F, Weichert A, Kalache K, Paradiso V, Longardt AC, Dame C, Hoffmann K, Horn D.
Am J Med Genet A m J Med Genet A. 2016 Oct 7. doi: 10.1002/ajmg.a.37997. [Epub ahead of print] 2016
9PIEZO2
The potential role of Piezo2 in the mediation of visceral sensation.
Yang J, Zhang J, Yang H, Li K, Lei X, Xu C.
Neurosci Lett 630:158-63. doi: 10.1016/j.neulet.2016.07.058. 2016
10PIEZO2
Piezo2 protein: A novel regulator of tumor angiogenesis and hyperpermeability.
Yang H, Liu C, Zhou RM, Yao J, Li XM, Shen Y, Cheng H, Yuan J, Yan B, Jiang Q.
Oncotarget 7(28):44630-44643. doi: 10.18632/oncotarget.10134. 2016
11PIEZO1, PIEZO2
Piezo1-dependent regulation of urinary osmolarity.
Martins JR, Penton D, Peyronnet R, Arhatte M, Moro C, Picard N, Kurt B, Patel A, Honoré E, Demolombe S.
Pflugers Arch 468(7):1197-206. doi: 10.1007/s00424-016-1811-z. 2016
12PIEZO2
Regulation of Piezo2 Mechanotransduction by Static Plasma Membrane Tension in Primary Afferent Neurons.
Jia Z, Ikeda R, Ling J, Viatchenko-Karpinski V, Gu JG.
J Biol Chem 291(17):9087-104. doi: 10.1074/jbc.M115.692384. 2016
13PIEZO2
Piezo2 is the principal mechanotransduction channel for proprioception.
Woo SH, Lukacs V, de Nooij JC, Zaytseva D, Criddle CR, Francisco A, Jessell TM, Wilkinson KA, Patapoutian A.
Nat Neurosci 18(12):1756-62. doi: 10.1038/nn.4162. 2015
14PIEZO1, PIEZO2
Piezo1 ion channel pore properties are dictated by C-terminal region.
Coste B, Murthy SE, Mathur J, Schmidt M, Mechioukhi Y, Delmas P, Patapoutian A.
Nat Commun 6:7223. doi: 10.1038/ncomms8223. 2015
15PIEZO2
PIEZO2 is required for mechanotransduction in human stem cell-derived touch receptors.
Schrenk-Siemens K, Wende H, Prato V, Song K, Rostock C, Loewer A, Utikal J, Lewin GR, Lechner SG, Siemens J.
Nat Neurosci 18(1):10-6. doi: 10.1038/nn.3894. 2015
16AMCD3, AMCD5, MDWS, PIEZO2
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5.
McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.
Am J Hum Genet 94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10. 2014
17PIEZO2
Piezo2 is required for Merkel-cell mechanotransduction.
Woo SH, Ranade S, Weyer AD, Dubin AE, Baba Y, Qiu Z, Petrus M, Miyamoto T, Reddy K, Lumpkin EA, Stucky CL, Patapoutian A.
Nature 509(7502):622-6. doi: 10.1038/nature13251. 2014
18PIEZO2
Piezo2 expression in corneal afferent neurons.
Bron R, Wood RJ, Brock JA, Ivanusic JJ.
J Comp Neurol 522(13):2967-79. doi: 10.1002/cne.23560. 2014
19AMCD5, PIEZO2
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.
Coste B, Houge G, Murray MF, Stitziel N, Bandell M, Giovanni MA, Philippakis A, Hoischen A, Riemer G, Steen U, Steen VM, Mathur J, Cox J, Lebo M, Rehm H, Weiss ST, Wood JN, Maas RL, Sunyaev SR, Patapoutian A.
Proc Natl Acad Sci U S A 110(12):4667-72. doi: 10.1073/pnas.1221400110. 2013
20PIEZO1, PIEZO2
Piezo proteins are pore-forming subunits of mechanically activated channels.
Coste B, Xiao B, Santos JS, Syeda R, Grandl J, Spencer KS, Kim SE, Schmidt M, Mathur J, Dubin AE, Montal M, Patapoutian A.
Nature. 483(7388):176-81. 2012
21FAM38A, FAM38B, PIEZO1, PIEZO2
Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels.
Coste B, Mathur J, Schmidt M, Earley TJ, Ranade S, Petrus MJ, Dubin AE, Patapoutian A.
Science 330(6000):55-60. Epub 2010 Sep 2. 2010