Periaxin mutations cause recessive Dejerine-Sottas neuropathy (Q24290670)

4 July 2017

Periaxin mutations cause recessive Dejerine-Sottas neuropathy (English)

1 reference

4 July 2017

1 reference

GOA release 2020-03-11

axon ensheathment

1 reference

GOA release 2020-03-11

author name string

C F Boerkoel

1

1 reference

4 July 2017

H Takashima

2

1 reference

4 July 2017

P Stankiewicz

3

1 reference

4 July 2017

C A Garcia

4

1 reference

4 July 2017

S M Leber

5

1 reference

4 July 2017

L Rhee-Morris

6

1 reference

4 July 2017

J R Lupski

7

1 reference

4 July 2017

language of work or name

English

0 references

publication date

15 December 2000

1 reference

American Journal of Human Genetics

4 July 2017

1 reference

4 July 2017

68

1 reference

4 July 2017

2

1 reference

4 July 2017

325-333

1 reference

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

19 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

19 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

Two PDZ domain proteins encoded by the murine periaxin gene are the result of alternative intron retention and are differentially targeted in Schwann cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

Periaxin, a novel protein of myelinating Schwann cells with a possible role in axonal ensheathment

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

Molecular basis of muscular dystrophies.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

Protein modules as organizers of membrane structure

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

Sequence mapping by electronic PCR

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

The gene encoding the Schwann cell protein periaxin localizes on mouse chromosome 7 (Prx).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

Actin plays a role in both changes in cell shape and gene-expression associated with Schwann cell myelination

27 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

27 September 2017

https://pubmed.ncbi.nlm.nih.gov/11133365

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Rho, Rac and Cdc42 GTPases regulate the organization of the actin cytoskeleton

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

Periaxin expression in myelinating Schwann cells: modulation by axon-glial interactions and polarized localization during development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

A PDZ protein ushers in new links.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235266

Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11133365

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Recessive Charcot-Marie-tooth disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11133365

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/318208

1 reference

OpenCitations bibliographic resource ID

4 July 2017

4485425

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

4 July 2017

1 reference