| 1. |
- Hillbertz, Nicolette Salmon, et al.
(author)
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Viral and Molecular Aspects of Oral Cancer
- 2012
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In: Anticancer Research. - 0250-7005 .- 1791-7530. ; 32:10, s. 4201-4212
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Research review (peer-reviewed)abstract
- Squamous cell carcinoma (SCC) is the most common epithelial malignancy in the oral cavity. SCCs and their variants constitute over 90% of oral malignancies, and the disease is associated with poor prognosis. OSCC is a complex malignancy where environmental factors, virus infections, and genetic alterations most likely interact, and thus give rise to the malignant condition. Herein, we review the available literature regarding high-risk factors such as alcohol and tobacco usage; discuss the roles of human papillomaviruses (HPV), the Epstein-Barr virus, and the human herpes simplex virus (HSV); and evaluate several candidate genes associated with the condition: p53, p16(INK4) and p21(WAF1/CIP1) survivin, B-cell lymphoma-2 (BCL-2), keratins, Fibroblast growth factor 3 (FGF3), FGF4, FGF19, Oral cancer overexpressed gene 1 (ORAOV1), and Cyclin D1 (CCND1).
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| 2. |
- Karlsson, Elinor K., et al.
(author)
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Efficient mapping of mendelian traits in dogs through genome-wide association
- 2007
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:11, s. 1321-1328
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Journal article (peer-reviewed)abstract
- With several hundred genetic diseases and an advantageous genome structure, dogs are ideal for mapping genes that cause disease. Here we report the development of a genotyping array with |[sim]|27,000 SNPs and show that genome-wide association mapping of mendelian traits in dog breeds can be achieved with only |[sim]|20 dogs. Specifically, we map two traits with mendelian inheritance: the major white spotting (S) locus and the hair ridge in Rhodesian ridgebacks. For both traits, we map the loci to discrete regions of <1 Mb. Fine-mapping of the S locus in two breeds refines the localization to a region of |[sim]|100 kb contained within the pigmentation-related gene MITF. Complete sequencing of the white and solid haplotypes identifies candidate regulatory mutations in the melanocyte-specific promoter of MITF. Our results show that genome-wide association mapping within dog breeds, followed by fine-mapping across multiple breeds, will be highly efficient and generally applicable to trait mapping, providing insights into canine and human health.
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| 3. |
- Kennedy, L J, et al.
(author)
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Association of canine hypothyroidism with a common major histocompatibility complex DLA class II allele.
- 2006
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In: Tissue Antigens. - : Wiley. - 0001-2815 .- 1399-0039. ; 68:1, s. 82-6
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Journal article (peer-reviewed)abstract
- Dogs exhibit a range of immune-mediated conditions including a lymphocytic thyroiditis which has many similarities to Hashimoto's thyroiditis in man. We have recently reported an association in Doberman Pinschers between canine hypothyroidism and a rare DLA class II haplotype that contains the DLA-DQA1*00101 allele. We now report a further series of 173 hypothyroid dogs in a range of breeds where a significant association with DLA-DQA1*00101 is shown.
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| 4. |
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| 5. |
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| 6. |
- Salmon Hillbertz, Nicolette, et al.
(author)
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Autosomal dominant mutation causing the dorsal ridge predisposes for dermoid sinus in Rhodesian ridgeback dogs.
- 2006
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In: Journal of Small Animal Practice. - : Wiley. - 0022-4510 .- 1748-5827. ; 47:4, s. 184-8
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Journal article (peer-reviewed)abstract
- OBJECTIVES: To define the mode of inheritance of the dorsal ridge and investigate if the ridge predisposes to the congenital abnormality dermoid sinus in the Rhodesian ridgeback.METHODS: Segregation analysis was performed, including 87 litters (n=803) produced in Sweden between 1981 and 2002. Data were corrected to avoid bias in the segregation ratio. Chi-squared analysis was performed including 402 litters (n=3598) for the evaluation of a possible genetic correlation between the ridge and dermoid sinus.RESULTS: The ridge is inherited in an autosomal dominant mode and predisposes for dermoid sinus. The frequency of ridgeless offspring in the Swedish Rhodesian ridgeback population is estimated to be 5.6 per cent.CLINICAL SIGNIFICANCE: Rhodesian ridgeback dogs that carry the ridge trait are predisposed to dermoid sinus.
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| 7. |
- Salmon Hillbertz, Nicolette H. C., et al.
(author)
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Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs
- 2007
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:11, s. 1318-1320
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Journal article (peer-reviewed)abstract
- The dorsal hair ridge in Rhodesian and Thai Ridgeback dogs is caused by a dominant mutation that also predisposes to the congenital developmental disorder dermoid sinus. Here we show that the causative mutation is a 133-kb duplication involving three fibroblast growth factor (FGF) genes. FGFs play a crucial role in development, suggesting that the ridge and dermoid sinus are caused by dysregulation of one or more of the three FGF genes during development.
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| 8. |
- Salmon Hillbertz, Nicolette H. C.
(author)
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Inheritance of dermoid sinus in the Rhodesian ridgeback
- 2005
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In: Journal of Small Animal Practice. - : Wiley. - 0022-4510 .- 1748-5827. ; 46:2, s. 71-4
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Journal article (peer-reviewed)abstract
- OBJECTIVES: TO define the mode of inheritance of dermoid sinus.METHODS: A chi-squared analysis was performed on data from 46 litters produced between 1990 and 2001. Data were corrected to avoid bias in the segregation ratio.RESULTS: In data from 57 litters (n=492), 82 dermoid sinus positive offspring were observed. The frequency of affected offspring in the Swedish Rhodesian ridgeback population is estimated to be between 8 and 10 per cent.CLINICAL SIGNIFICANCE: Bias in heredity pattern may be caused by undetected dermoid sinus type V. Improved clinical diagnosis of all dermoid sinus types is therefore crucial.
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