The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2. (Q47731938)

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scientific article published on 23 July 2003

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English	The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2.	scientific article published on 23 July 2003

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Europe PubMed Central

PubMed publication ID

12884002

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12884002%20AND%20SRC:MED&resulttype=core&format=json

retrieved

6 November 2019

title

The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2 (English)

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Europe PubMed Central

PubMed publication ID

12884002

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12884002%20AND%20SRC:MED&resulttype=core&format=json

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6 November 2019

main subject

centronuclear myopathy

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author

Laurent Tiret

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1

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PubMed publication ID

12884002

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12884002%20AND%20SRC:MED&resulttype=core&format=json

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6 November 2019

Stéphane Blot

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2

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PubMed publication ID

12884002

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12884002%20AND%20SRC:MED&resulttype=core&format=json

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6 November 2019

Matthew Breen

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5

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PubMed publication ID

12884002

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6 November 2019

Jean-Jacques Panthier

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6

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PubMed publication ID

12884002

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6 November 2019

author name string

Jean-Louis Kessler

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3

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PubMed publication ID

12884002

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6 November 2019

Hugues Gaillot

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4

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PubMed publication ID

12884002

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6 November 2019

publication date

23 July 2003

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PubMed publication ID

12884002

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6 November 2019

published in

Human Genetics

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PubMed publication ID

12884002

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6 November 2019

volume

113

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PubMed publication ID

12884002

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6 November 2019

issue

4

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PubMed publication ID

12884002

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6 November 2019

page(s)

297-306

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PubMed publication ID

12884002

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6 November 2019

cites work

A whole-genome radiation hybrid map of the dog genome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome-specific single-locus FISH probes allow anchorage of an 1800-marker integrated radiation-hybrid/linkage map of the domestic dog genome to all chromosomes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital myopathies.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Construction and characterization of an eightfold redundant dog genomic bacterial artificial chromosome library

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parametric and nonparametric linkage analysis: a unified multipoint approach

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic ablation of orexin neurons in mice results in narcolepsy, hypophagia, and obesity

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited myopathy in a litter of Labrador retrievers

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inheritance of a neuromuscular disorder of Labrador retriever dogs

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic aspects of Labrador Retriever myopathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MTM1 mutations in X-linked myotubular myopathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Narcolepsy in orexin knockout mice: molecular genetics of sleep regulation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An integrated linkage-radiation hybrid map of the canine genome.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignation of highly polymorphic markers on a canine purebred pedigree.

1 reference

stated in

PubMed

reference URL

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retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

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A class of highly polymorphic tetranucleotide repeats for canine genetic mapping

1 reference

stated in

PubMed

reference URL

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retrieved

12 December 2020

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The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anchoring of canine linkage groups with chromosome-specific markers

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

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Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region

1 reference

stated in

PubMed

reference URL

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retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a new copper metabolism gene by positional cloning in a purebred dog population

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Faster multipoint linkage analysis using Fourier transforms.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary myopathy in Labrador retrievers: a morphologic study

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A muscle disorder of Labrador retrievers characterized by deficiency of type II muscle fibers

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myotubular myopathy: morphological, immunohistochemical and clinical variation.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Canine genetics comes of age.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 1-Mb resolution radiation hybrid map of the canine genome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reciprocal chromosome painting reveals detailed regions of conserved synteny between the karyotypes of the domestic dog (Canis familiaris) and human.

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/12884002

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Companion animal medicine in the age of medical genetics

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of flow-sorted canine chromosomes in the assignment of canine linkage, radiation hybrid, and syntenic groups to chromosomes: refinement and verification of the comparative chromosome map for dog and human

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Linkage Map of the Canine Genome

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A complete comparative chromosome map for the dog, red fox, and human and its integration with canine genetic maps.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884002

retrieved

12 December 2020

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Identifiers

DOI

10.1007/S00439-003-0984-7

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stated in

Europe PubMed Central

PubMed publication ID

12884002

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12884002%20AND%20SRC:MED&resulttype=core&format=json

retrieved

6 November 2019

PubMed publication ID

12884002

1 reference

stated in

Europe PubMed Central

PubMed publication ID

12884002

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12884002%20AND%20SRC:MED&resulttype=core&format=json

retrieved

6 November 2019

ResearchGate publication ID

10641951

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