Cargando…

Candidate imaging biomarkers for PMP22 ‐related inherited neuropathies

OBJECTIVE: Charcot–Marie–Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsy (HNPP) are caused by mutations to the peripheral myelin protein 22 (PMP22) gene. A need exists for sensitive and reliable biomarkers of progression and treatment response. Magnetic resonance ima...

Descripción completa

Detalles Bibliográficos
Autores principales:	Roth, Alison R., Li, Jun, Dortch, Richard D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9268861/ https://www.ncbi.nlm.nih.gov/pubmed/35656877 http://dx.doi.org/10.1002/acn3.51561

Ejemplares similares

Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy
por: Liao, Yi-Chu, et al.
Publicado: (2017)

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

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)

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

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)

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

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

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

Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
por: Palu, Edouard, 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)

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

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)

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

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)

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)

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)

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

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)

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

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

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

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)

Analysis of Polymorphic Membrane Protein Expression in Cultured Cells Identifies PmpA and PmpH of Chlamydia psittaci as Candidate Factors in Pathogenesis and Immunity to Infection
por: Van Lent, Sarah, et al.
Publicado: (2016)

PMP® exam prep : accelerated learning to pass PMI®'s PMP Exam
por: Mulcahy, Rita
Publicado: (2013)

Head first PMP
por: Greene, Jennifer, et al.
Publicado: (2018)

PMP exam prep
por: Mulcahy, Rita
Publicado: (2013)

PMP rapid review
por: Whitaker, Sean
Publicado: (2013)

Head first PMP
por: Greene, Jennifer, et al.
Publicado: (2013)

PMP: practice questions
por: Francis, David, et al.
Publicado: (2005)

PMP training kit
por: Whitaker, Sean
Publicado: (2013)

PMP exam challenge!
por: Ward, J LeRoy, et al.
Publicado: (2013)

Analyses of the differentiation potential of satellite cells from myoD(-/-), mdx, and PMP22 C22 mice
por: Schuierer, Marion M, et al.
Publicado: (2005)

PMP in depth: Project Management Professional Certification study guide for the PMP Exam
por: Sanghera, Paul
Publicado: (2018)

T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature
por: Ho, Kwo Wei David, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_e1o6531dr64gq091r3k4km0ism