PIEZO2

Publications

Alfares et al. A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. Mol Genet Metab. 2017;121(2):91-95.  PMID: 28454995.

Alisch F et al. Familial Gordon syndrome associated with a PIEZO2 mutation. Am J Med Genet A. 2017;173(1):254-259.  PMID: 27714920.

Chesler AT et al. The Role of PIEZO2 in Human Mechanosensation. N Engl J Med. 2016;375(14):1355-1364.  PMID: 27653382.

Coste B et al. Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels. Science. 2010;330(6000):55-60.  PMID: 20813920.

Coste B et al. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. Proc Natl Acad Sci U S A. 2013;19;110(12):4667-72.  PMID: 23487782

Delle Vedove A et al. Biallelic loss of proprioception-related PIEZO2 causes muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis. Am J Hum Genet. 2016;99(5):1206-1216.  PMID: 27843126.

Gleich SJ et al. Anesthetic outcomes for children with arthrogryposis syndromes: no evidence of hyperthermia. Anesth Analg 2017;124:908-914.  PMID: 28099287.

Haliloglu G et al. Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. J Hum Genet. 2017;62(4):497-501.  PMID: 27974811.

Harris et al. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. Orphanet J Rare Dis. 2017;6;12(1):151.  PMID: 28877744

Ma Y et al. Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms. Exp Ther Med. 2019;17(5):3518-3524.  PMID: 30988732.

Mahmud AA et al. Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures. Clin Genet. 2017;91(3):470-475.  PMID: 27607563.

Maksimovic S et al. Epidermal Merkel cells are mechanosensory cells that tune mammalian touch receptors. Nature. 2014;509(7502):617-21.  PMID: 24717432.

McMillin et al. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet 2014;1;94(5):734-44.  PMID: 24726473.

Okubo et al. A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. Am J Med Genet A. 2015;167A(5):1100-6.  PMID: 25712306.

Ranade SS  et al. Piezo2 is the major transducer of mechanical forces for touch sensation in mice. Nature. 2014;516(7529):121-5.  PMID: 25471886.

Woo SH et al. Piezo2 is required for Merkel-cell mechanotransduction. Nature. 2014;509(7502):622-6.  PMID: 24717433.

Woo SH et al. Piezo2 is the principal mechanotransduction channel for proprioception. Nat Neurosci. 2015;18(12):1756-62.  PMID: 26551544.

Yamaguchi T et al. PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.Am J Med Genet A. 2019;179(6):948-957.  PMID: 30941898.