Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronicNTRK1-mutation due to uniparental disomy-Reference-Cited by-同舟云学术

Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronicNTRK1-mutation due to uniparental disomy

Published:2016-05-17 Issue:6 Volume:171 Page:875-878
ISSN:1552-4841
Container-title:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kurth Ingo¹,Baumgartner Manuela²,Schabhüttl Maria³,Tomni Cecilia¹,Windhager Reinhard³,Strom Tim M.⁴⁵,Wieland Thomas⁴,Gremel Kurt⁶,Auer-Grumbach Michaela³

Affiliation:

1. Institute of Human Genetics; Jena University Hospital; Jena Germany

2. Department of Neuropaediatrics; Hospital Barmherzige Schwestern Linz; Linz Austria

3. Department of Orthopaedics; Medical University Vienna; Vienna Austria

4. Institute of Human Genetics; Helmholtz Zentrum München−German Research Center for Environmental Health; Neuherberg Germany

5. Institute for Human Genetics; Technical University Munich; Munich Germany

6. Department of Paediatric Orthopedics; Orthopaedical Hospital Speising; Vienna Austria

Funder

Austrian Science Fund

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics(clinical)

Reference11 articles.

1. Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype;Carmichael;Clin Genet,2013

2. Transcriptional regulator PRDM12 is essential for human pain perception;Chen;Nat Genet,2015

3. An SCN9A channelopathy causes congenital inability to experience pain;Cox;Nature,2006

4. Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects;Field;Am J Hum Genet,1998

5. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis;Indo;Nat Genet,1996

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis;Pain;2024-05-31

2. Rare variant analyses in large-scale cohorts identified SLC13A1 associated with chronic pain;Pain;2023-03-22

3. Genetic pain loss disorders;Nature Reviews Disease Primers;2022-06-16

4. Structural analysis of TrkA mutations in patients with congenital insensitivity to pain reveals PLCγ as an analgesic drug target;Science Signaling;2022-04-26

5. Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing;Neurology Genetics;2021-03-05