Polymorphic variants within the homeobox gene MSX1: a candidate gene for developmental disorders
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| Published in: | Clinical genetics Vol. 54; no. 2; pp. 152 - 154 |
|---|---|
| Main Authors: | , |
| Format: | Journal Article |
| Language: | English |
| Published: |
Oxford, UK
Blackwell Publishing Ltd
01.08.1998
Blackwell |
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| ISSN: | 0009-9163, 1399-0004 |
| Online Access: | Get full text |
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| Author | Hollway, Georgina E Mulley, John C |
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| Author_xml | – sequence: 1 givenname: Georgina E surname: Hollway fullname: Hollway, Georgina E organization: Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, Australia – sequence: 2 givenname: John C surname: Mulley fullname: Mulley, John C organization: Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, Australia |
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| Keywords | Genetic mapping Human Nervous system diseases Craniosynostosis Diseases of the osteoarticular system Dysostosis Chromosome B4 Genetic determinism Gene Malformation Skull disease Homeobox sequence Polymorphism |
| Language | English |
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| PublicationDate | August 1998 |
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| References | Hollway GE, Phillips HA, Ades LC, Haan EA, Mulley JC. Localization of craniosynostosis Adelaide type to 4p16. Hum Mol Genet 1995: 4: 681-683. Muenke M., Gripp KW, McDonald-McGinn DM, Gaudenz K., Whitaker LA. Bartlett SP, Markowitz RI, Robin NH, Nwokoro N., Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA. Hollway G., Adès LC, Haan EA, Mulley JC, Cohen Jr. MM, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AOM, Zackai EH. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 1997: 60: 555-564. Ivens A., Flavin N., Williamson R., Dixon M., Bates G., Buckingham M., Robert B. The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome. Hum Genet 1990: 84: 473-476. Hewitt JE, Clark LN, Ivens A., Williamson R. Structure and sequence of the human homeobox gene HOX7. Genomics 1991: 11: 670-678. Padanilam BJ, Stadler HS, Mills KA, McLeod LB, Solursh M., Lee B., Ramirez F., Buetow KH, Murray JC. Characterization of the human HOX7 cDNA and identification of polymorphic markers. Hum Mol Genet 1992: 1: 407-410. Vastardis H., Karimbux N., Guthua SW, Seidman JG, Seidman CE. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet 1996: 13: 417-421. 1990; 84 1996; 13 1995; 4 1991; 11 1992; 1 1997; 60 e_1_2_1_6_2 e_1_2_1_7_2 e_1_2_1_4_2 e_1_2_1_2_2 e_1_2_1_3_2 Muenke M. (e_1_2_1_5_2) 1997; 60 |
| References_xml | – reference: Padanilam BJ, Stadler HS, Mills KA, McLeod LB, Solursh M., Lee B., Ramirez F., Buetow KH, Murray JC. Characterization of the human HOX7 cDNA and identification of polymorphic markers. Hum Mol Genet 1992: 1: 407-410. – reference: Hewitt JE, Clark LN, Ivens A., Williamson R. Structure and sequence of the human homeobox gene HOX7. Genomics 1991: 11: 670-678. – reference: Ivens A., Flavin N., Williamson R., Dixon M., Bates G., Buckingham M., Robert B. The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome. Hum Genet 1990: 84: 473-476. – reference: Muenke M., Gripp KW, McDonald-McGinn DM, Gaudenz K., Whitaker LA. Bartlett SP, Markowitz RI, Robin NH, Nwokoro N., Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA. Hollway G., Adès LC, Haan EA, Mulley JC, Cohen Jr. MM, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AOM, Zackai EH. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 1997: 60: 555-564. – reference: Hollway GE, Phillips HA, Ades LC, Haan EA, Mulley JC. Localization of craniosynostosis Adelaide type to 4p16. Hum Mol Genet 1995: 4: 681-683. – reference: Vastardis H., Karimbux N., Guthua SW, Seidman JG, Seidman CE. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet 1996: 13: 417-421. – volume: 84 start-page: 473 year: 1990 end-page: 476 article-title: The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf‐Hirschhorn syndrome publication-title: Hum Genet – volume: 4 start-page: 681 year: 1995 end-page: 683 article-title: Localization of craniosynostosis Adelaide type to 4p16 publication-title: Hum Mol Genet – volume: 11 start-page: 670 year: 1991 end-page: 678 article-title: Structure and sequence of the human homeobox gene HOX7 publication-title: Genomics – volume: 13 start-page: 417 year: 1996 end-page: 421 article-title: A human homeodomain missense mutation causes selective tooth agenesis publication-title: Nat Genet – volume: 60 start-page: 555 year: 1997 end-page: 564 article-title: A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome publication-title: Am J Hum Genet – volume: 1 start-page: 407 year: 1992 end-page: 410 article-title: Characterization of the human HOX7 cDNA and identification of polymorphic markers publication-title: Hum Mol Genet – ident: e_1_2_1_3_2 doi: 10.1007/BF00195823 – volume: 60 start-page: 555 year: 1997 ident: e_1_2_1_5_2 article-title: A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome publication-title: Am J Hum Genet – ident: e_1_2_1_2_2 doi: 10.1016/0888-7543(91)90074-O – ident: e_1_2_1_7_2 doi: 10.1093/hmg/1.6.407 – ident: e_1_2_1_6_2 doi: 10.1038/ng0896-417 – ident: e_1_2_1_4_2 doi: 10.1093/hmg/4.4.681 |
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| SubjectTerms | Amino Acid Substitution Biological and medical sciences Chromosomes, Human, Pair 4 - genetics craniosynostosis Exons Genes, Homeobox - genetics Genetic Variation - genetics Growth Disorders - genetics Heteroduplex Analysis Homeodomain Proteins - genetics Humans Introns Malformations of the nervous system Medical sciences MSX1 MSX1 Transcription Factor Neurology polymorphism Polymorphism, Genetic - genetics Polymorphism, Single-Stranded Conformational Sequence Deletion - genetics Transcription Factors |
| Title | Polymorphic variants within the homeobox gene MSX1: a candidate gene for developmental disorders |
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