Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the myotubularin-related 2 gene, mutated in CMT4B

Gene

Volumn 283, Issue 1-2, 2002, Pages 17-26

  Bolino, Alessandra ^a,b   Marigo, Valeria ^c   Ferrera, Francesca ^a   Loader, Julie ^b   Romio, Leila ^a   Leoni, Antonio ^c   Di Duca, Marco ^a   Cinti, Roberta ^a   Cecchi, Chiara ^d   Feltri, Maria Laura ^d   Wrabetz, Lawrence ^d   Ravazzolo, Roberto ^a   Monaco, Anthony P ^b  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^d SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

Charcot Marie Tooth disease; Genomic clone; Myotubularin; Phosphatase proteins

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA;

5' UNTRANSLATED REGION; ANIMAL TISSUE; ARTICLE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 9; CONTROLLED STUDY; EMBRYO; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENE STRUCTURE; INTRON; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; ORGANOGENESIS; PERIPHERAL NERVOUS SYSTEM; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; SPINAL GANGLION; SPINAL ROOT;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOME MAPPING; CLONING, MOLECULAR; DNA, COMPLEMENTARY; EMBRYO; GENE EXPRESSION; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES; HUMANS; IN SITU HYBRIDIZATION; IN SITU HYBRIDIZATION, FLUORESCENCE; LIVER; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PERIPHERAL NERVES; PROTEIN-TYROSINE-PHOSPHATASE; RNA, MESSENGER; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID;

ANIMALIA;

EID: 0037160524     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(01)00876-9     Document Type: Article

References (19)

1. Basic local alignment search tool
2. Periaxin mutations cause recessive Dejerine-Sottas neuropathy
3. Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22
4. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
5. Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy
6. Differential distribution of long and short interspersed element sequences in the mouse genome: Chromosome karyotyping by fluorescence in situ hybridization
7. Translation start site multiplicity of the CCAAT/enhancer binding protein α mRNA is dictated by a small 5′ open reading frame
8. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease
9. Mutations in the 5′ region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin
10. Adherence to the first-AUG rule when a second AUG codon follows closely upon the first
11. Enzymatic synthesis of biotin-labeled polynucleotides: Novel nucleic acid affinity probes
12. The myotubularin family: From genetic disease to phosphoinositide metabolism
13. PTEN and Myotubularin: Novel phosphoinositide phosphatases
14. Sonic hedgehog differentially regulates expression of GLI and GLI3 during limb development
15. Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization
16. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: Clinical, electrophysiologic, and genetic aspects of a large family
17. Expression pattern of the ocular albinism type 1 (OA1) gene in the murine retinal pigment epithelium
18. The molecular genetics of hereditary demyelinating neuropathies
19. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta