(Q24532011)

English

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

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scholarly article

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Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma (English)

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13

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Ahmed Bouhouche

6

object named as

A Bouhouche

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Alessandra Bolino

object named as

A Bolino

2

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author name string

H Azzedine

1

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T Taïeb

3

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N Birouk

4

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M Di Duca

5

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S Benamou

7

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A Mrabet

8

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T Hammadouche

9

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T Chkili

10

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R Gouider

11

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R Ravazzolo

12

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J Laporte

14

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E LeGuern

15

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language of work or name

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publication date

May 2003

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American Journal of Human Genetics

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72

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5

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1141-53

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The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles

1 reference

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24 March 2017

Male infertility, impaired spermatogenesis, and azoospermia in mice deficient for the pseudophosphatase Sbf1

1 reference

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24 March 2017

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24 March 2017

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

1 reference

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24 March 2017

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.

1 reference

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24 March 2017

N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

1 reference

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24 March 2017

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human

1 reference

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24 March 2017

Identification and analysis of PH domain-containing targets of phosphatidylinositol 3-kinase using a novel in vivo assay in yeast

1 reference

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24 March 2017

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

1 reference

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24 March 2017

Association of SET domain and myotubularin-related proteins modulates growth control

1 reference

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24 March 2017

Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region

1 reference

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24 March 2017

The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools

1 reference

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24 March 2017

Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly

1 reference

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24 March 2017

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

24 March 2017

The Pfam protein families database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

24 March 2017

PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

24 March 2017

Adult-onset primary open-angle glaucoma caused by mutations in optineurin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

24 March 2017

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

24 March 2017

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

24 March 2017

The myotubularin family: from genetic disease to phosphoinositide metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

24 March 2017

GRAM, a novel domain in glucosyltransferases, myotubularins and other putative membrane-associated proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

24 March 2017

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

24 March 2017

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

24 March 2017

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

24 March 2017

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

24 March 2017

Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

24 March 2017

ALL-1 is a histone methyltransferase that assembles a supercomplex of proteins involved in transcriptional regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

7 April 2017

Recent improvements to the SMART domain-based sequence annotation resource

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

7 April 2017

A knowledge base for predicting protein localization sites in eukaryotic cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

7 April 2017

Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

27 September 2017

The myotubularin family: novel phosphoinositide regulators

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

27 September 2017

Characterization of an adapter subunit to a phosphatidylinositol (3)P 3-phosphatase: identification of a myotubularin-related protein lacking catalytic activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

27 September 2017

PTEN and myotubularin phosphoinositide phosphatases: bringing bioinformatics to the lab bench

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

27 September 2017

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

27 September 2017

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

27 September 2017

Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

27 September 2017

Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

27 September 2017

Identification of a gene that causes primary open angle glaucoma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

27 September 2017

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

27 September 2017

Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

27 September 2017

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

27 September 2017

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

27 September 2017

Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

27 September 2017

Crossover counts and likelihood in multipoint linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

27 September 2017

A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

30 May 2018

uDENN, DENN, and dDENN: indissociable domains in Rab and MAP kinases signaling pathways.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

29 November 2018

Avoiding recomputation in linkage analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180267

29 November 2018

GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36

1 reference

https://pubmed.ncbi.nlm.nih.gov/12687498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary motor and sensory neuropathy with congenital glaucoma. Report on a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/12687498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary motor and sensory neuropathy with myelin folding and juvenile onset glaucoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/12687498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study

1 reference

https://pubmed.ncbi.nlm.nih.gov/12687498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/12687498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region

1 reference

https://pubmed.ncbi.nlm.nih.gov/12687498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing

1 reference

https://pubmed.ncbi.nlm.nih.gov/12687498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region

1 reference

https://pubmed.ncbi.nlm.nih.gov/12687498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SMART, a simple modular architecture research tool: identification of signaling domains

1 reference

https://pubmed.ncbi.nlm.nih.gov/12687498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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