PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review-Reference-Cited by-同舟云学术

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review

Published:2019-04-02 Issue:6 Volume:179 Page:948-957
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Yamaguchi Tomomi¹²,Takano Kyoko¹²^ORCID,Inaba Yuji³⁴,Morikawa Manami³,Motobayashi Mitsuo³^ORCID,Kawamura Rie¹,Wakui Keiko¹²,Nishi Eriko⁵,Hirabayashi Shin‐ichi⁴,Fukushima Yoshimitsu¹²,Kato Hiroyuki⁶,Takahashi Jun⁶,Kosho Tomoki¹²⁷^ORCID

Affiliation:

1. Department of Medical GeneticsShinshu University School of Medicine Matsumoto Japan

2. Center for Medical GeneticsShinshu University Hospital Matsumoto Japan

3. Department of PediatricsShinshu University School of Medicine Matsumoto Japan

4. Division of NeurologyNagano Children's Hospital Azumino Japan

5. Division of Medical GeneticsNagano Children's Hospital Azumino Japan

6. Department of OrthopedicsShinshu University School of Medicine Matsumoto Japan

7. Research Center for Supports to Advanced ScienceShinshu University Matsumoto Japan

Funder

Japan Agency for Medical Research and Development

Ministry of Health, Labour and Welfare

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61142

Reference16 articles.

1. Subcortical somatosensory evoked potentials after posterior tibial nerve stimulation in children

2. Clinical uses of H reflexes of upper and lower limb muscles

3. The Role of PIEZO2 in Human Mechanosensation

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

5. Piezo1 and Piezo2 Are Essential Components of Distinct Mechanically Activated Cation Channels

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1. Novel PIEZO 2 mutations resulting in distal arthrogyposis with impaired proprioception and touch, alongside epilepsy: A clinical case report.;Medical Reports;2024-08

2. Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis;Frontiers in Genetics;2023-12-21

3. <i>PIEZO2</i> gene and its role in the development of distal arthrogryposis: A literature review;Pediatric Traumatology, Orthopaedics and Reconstructive Surgery;2023-07-05

4. Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers‐Danlos syndrome;American Journal of Medical Genetics Part A;2023-06-23

5. Piezo2 regulates colonic mechanical sensitivity in a sex specific manner in mice;Nature Communications;2023-04-15