Cargando…

Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy

Point mutations in the peripheral myelin protein 22 (PMP22) gene have been identified to cause demyelinating Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsy (HNPP). To investigate the mutation spectrum of PMP22 in Han-Chinese population residing in Taiwan...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liao, Yi-Chu, Tsai, Pei-Chien, Lin, Thy-Sheng, Hsiao, Cheng-Tsung, Chao, Nai-Chen, Lin, Kon-Ping, Lee, Yi-Chung
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681590/ https://www.ncbi.nlm.nih.gov/pubmed/29127354 http://dx.doi.org/10.1038/s41598-017-14771-5

Ejemplares similares

Candidate imaging biomarkers for PMP22 ‐related inherited neuropathies
por: Roth, Alison R., et al.
Publicado: (2022)

Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy
por: Hsiao, Cheng-Tsung, et al.
Publicado: (2016)

A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice
por: Stavrou, Marina, et al.
Publicado: (2022)

RUNX represses Pmp22 to drive neurofibromagenesis
por: Hall, Ashley, et al.
Publicado: (2019)

Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies
por: Cho, Sun-Mi, et al.
Publicado: (2014)

Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene
por: Fusco, Carlo, et al.
Publicado: (2017)

Genetic and Functional Analysis of Glycosyltransferase 8 Domain–Containing Protein 1 in Taiwanese Patients With Amyotrophic Lateral Sclerosis
por: Tsai, Pei-Chien, et al.
Publicado: (2021)

Erratum to “Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies”
por: Cho, Sun-Mi, et al.
Publicado: (2015)

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies
por: van Paassen, Barbara W, et al.
Publicado: (2014)

The Homology Model of PMP22 Suggests Mutations Resulting in Peripheral Neuropathy Disrupt Transmembrane Helix Packing
por: Mittendorf, Kathleen F., et al.
Publicado: (2014)

Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
por: Palu, Edouard, et al.
Publicado: (2023)

Afferent Visual Pathway Affection in Patients with PMP22 Deletion-Related Hereditary Neuropathy with Liability to Pressure Palsies
por: Brandt, Alexander U., et al.
Publicado: (2016)

Clinical Characteristics and Genetic Variants in Taiwanese Patients With PROM1-Related Inherited Retinal Disorders
por: Lin, Tzu-Yi, et al.
Publicado: (2023)

PMP22 exon 4 deletion causes ER retention of PMP22 and a gain‐of‐function allele in CMT1E
por: Wang, David S., et al.
Publicado: (2017)

Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5
por: Chou, Cheng‐Ta, et al.
Publicado: (2020)

Central Alteration in Peripheral Neuropathy of Trembler-J Mice: Hippocampal pmp22 Expression and Behavioral Profile in Anxiety Tests
por: Damián, Juan Pablo, et al.
Publicado: (2021)

Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome
por: Lin, Han-Yi, et al.
Publicado: (2022)

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias
por: Hsiao, Cheng-Tsung, et al.
Publicado: (2017)

Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy
por: Kuroha, Yasuko, et al.
Publicado: (2022)

PMP
por: Heldman, Kim, et al.
Publicado: (2011)

PMP
por: Francis, David, et al.
Publicado: (2003)

Functional and comparative genomics analyses of pmp22 in medaka fish
por: Itou, Junji, et al.
Publicado: (2009)

The Functional Role of PMP22 Gene in the Proliferation and Invasion of Osteosarcoma
por: Liu, Shuyong, et al.
Publicado: (2015)

Correction: Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias
por: Hsiao, Cheng-Tsung, et al.
Publicado: (2018)

PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort
por: Lee, Yi-Chung, et al.
Publicado: (2012)

Bioinformatic Analysis of Chlamydia trachomatis Polymorphic Membrane Proteins PmpE, PmpF, PmpG and PmpH as Potential Vaccine Antigens
por: Nunes, Alexandra, et al.
Publicado: (2015)

The palmitoylation state of PMP22 modulates epithelial cell morphology and migration
por: Zoltewicz, Susie J., et al.
Publicado: (2012)

Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22
por: Schlebach, Jonathan P., et al.
Publicado: (2015)

Glycosylation limits forward trafficking of the tetraspan membrane protein PMP22
por: Marinko, Justin T., et al.
Publicado: (2021)

PMP Certification
por: Chandramouli, Subramanian
Publicado: (2019)

Characterization of familial hypercholesterolemia in Taiwanese ischemic stroke patients
por: Tung, Hsin, et al.
Publicado: (2021)

SP110 and PMP22 polymorphisms are associated with tuberculosis risk in a Chinese-Tibetan population
por: Ren, Guoxia, et al.
Publicado: (2016)

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy
por: Hong, Young Bin, et al.
Publicado: (2016)

Assessing the endocrine disrupting potentials and genotoxicity in environmental samples from Taiwanese rivers
por: Chou, Pei-Hsin, et al.
Publicado: (2019)

Peripheral myelin protein-22 (PMP22) modulates alpha 6 integrin expression in the human endometrium
por: Rao, Rajiv G, et al.
Publicado: (2011)

Genetic factors for nerve susceptibility to injuries – lessons from PMP22 deficiency
por: Li, Jun
Publicado: (2014)

Inducible HSP70 Is Critical in Preventing the Aggregation and Enhancing the Processing of PMP22
por: Chittoor-Vinod, Vinita G., et al.
Publicado: (2015)

Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link?
por: Endres, Dominique, et al.
Publicado: (2019)

A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy
por: Matsuda, Nozomu, et al.
Publicado: (2021)

Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia
por: Fang, Shih‐Yu, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_qr9jhbla12kkmb1nimopokqbfi