Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes

Gene

Volumn 286, Issue 2, 2002, Pages 215-222

  D'Apolito, Maria ^a   Guarnieri, Vito ^a   Boncristiano, Marianna ^b   Zelante, Leopoldo ^a   Savoia, Anna ^c  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF SIENA   (Italy)

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

Author keywords

Expression; Gene structure; Homology; MYH9 related syndromes

Indexed keywords

ISOPROTEIN; MYOSIN HEAVY CHAIN; NON MUSCLE MYOSIN HEAVY CHAIN IIA; NON MUSCLE MYOSIN HEAVY CHAIN IIB; UNCLASSIFIED DRUG;

ARTICLE; BRAIN; CHROMOSOME 15; CONTROLLED STUDY; EXON; FECHTNER SYNDROME; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC CODE; GENETIC CONSERVATION; GENETIC DISORDER; GENETIC TRANSCRIPTION; HEART; HUMAN; INTRON; MAY HEGGLIN ANOMALY; MOLECULAR CLONING; NEPHROTIC SYNDROME; ORTHOLOGY; PRIORITY JOURNAL; SEBASTIAN SYNDROME; SEQUENCE HOMOLOGY; SKELETAL MUSCLE; TESTIS; VERTEBRATE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BLOOD PLATELET DISORDERS; CLONING, MOLECULAR; DEAFNESS; DNA, COMPLEMENTARY; GENE EXPRESSION; HUMANS; MALE; MICE; MOLECULAR MOTOR PROTEINS; MOLECULAR SEQUENCE DATA; MYOSIN HEAVY CHAINS; NEPHRITIS, HEREDITARY; NONMUSCLE MYOSIN TYPE IIA; SEQUENCE ANALYSIS, DNA; SYNDROME; THROMBOCYTOPENIA;

MURINAE; VERTEBRATA;

EID: 0037139605     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(02)00455-9     Document Type: Article

References (23)

1. The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells
2. Deficiency of membrane GPIB/IX/V complex in platelets from May-Hegglin anomaly anomaly patients
3. Non-muscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes
4. Congenital macrothrombocytopenia, leucocyte inclusions, deafness and proteinuria: Functional and electron microscopic observations on platelets and megakaryocytes
5. A myosin family tree
6. Xenopus non-muscle myosin heavy chain isoforms have different subcellular localizations and enzymatic activities
7. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly
8. Cytoplasmic dynamics of myosin IIA and IIB: Spatial 'sorting' of isoforms in locomoting cells
9. Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome)
10. Human non-syndromic hereditary deafness DFNA17 is due to a mutation in non-muscle myosin MYH9
11. Bernard-Soulier syndrome
12. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene
13. Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders
14. Myosins: A diverse superfamily
15. The Epstein syndrome: A further renal disorder due to mutations in the non-muscle myosin heavy chain 9 gene
16. Differential expression and functions of cortical myosin IIA and IIB isotypes during meiotic maturation, fertilization, and mitosis in mouse oocytes and embryos
17. Human non-muscle myosin heavy chains are encoded by two genes located on different chromosomes
18. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes
19. Non-muscle myosin II-B is required for normal development of the mouse heart
20. Gene dosage affects the cardiac and brain phenotype in non-muscle myosin II-B-depleted mice
21. Association of unconventional myosin MYO15 mutations with human non-syndromic deafness DFNB3
22. Conditional expression of a truncated fragment of non-muscle myosin II-A alters cell shape but not cytokinesis in HeLa Cells
23. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene