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  • 1.
    Hillbertz, Nicolette Salmon
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Oral and Maxillofacial Surgery.
    Hirsch, Jan-Michael
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Oral and Maxillofacial Surgery.
    Jalouli, Jamshid
    Jalouli, Miranda M.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Oral and Maxillofacial Surgery.
    Sand, Lars
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Oral and Maxillofacial Surgery.
    Viral and Molecular Aspects of Oral Cancer2012In: Anticancer Research, ISSN 0250-7005, E-ISSN 1791-7530, Vol. 32, no 10, p. 4201-4212Article, review/survey (Refereed)
    Abstract [en]

    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).

  • 2. Karlsson, Elinor K.
    et al.
    Baranowska, Izabella
    Wade, Claire M.
    Salmon Hillbertz, Nicolette H. C.
    Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
    Zody, Michael C.
    Anderson, Nathan
    Biagi, Tara M.
    Patterson, Nick
    Pielberg, Gerli Rosengren
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
    Kulbokas, Edward J.
    Comstock, Kenine E.
    Keller, Evan T.
    Mesirov, Jill P.
    von Euler, Henrik
    Kämpe, Olle
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences.
    Hedhammar, Åke
    Lander, Eric S.
    Andersson, Göran
    Andersson, Leif
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
    Lindblad-Toh, Kerstin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
    Efficient mapping of mendelian traits in dogs through genome-wide association2007In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 39, no 11, p. 1321-1328Article in journal (Refereed)
    Abstract [en]

    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.

  • 3. Kennedy, L J
    et al.
    Quarmby, S
    Happ, G M
    Barnes, A
    Ramsey, I K
    Dixon, R M
    Catchpole, B
    Rusbridge, C
    Graham, P A
    Salmon Hillbertz, Nicolette
    Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences.
    Roethel, C
    Dodds, W J
    Carmichael, N G
    Ollier, W E R
    Association of canine hypothyroidism with a common major histocompatibility complex DLA class II allele.2006In: Tissue Antigens, ISSN 0001-2815, E-ISSN 1399-0039, Vol. 68, no 1, p. 82-6Article in journal (Refereed)
    Abstract [en]

    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.

  • 4.
    Ledin, Anna
    et al.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Cell and Molecular Biology, Molecular Immunology. Molekylär immunologi.
    Bergvall, Kerstin
    Salmon Hillbertz, Nicolette
    Department of Animal Breeding and Genetics, Biomedical Center, Swedish University of Agricultural Sciences, Uppsala, Sweden.
    Hansson, Helene
    Andersson, Göran
    Hedhammar, Ake
    Hellman, Lars
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Cell and Molecular Biology, Molecular Immunology. Molekylär immunologi.
    Generation of therapeutic antibody responses against IgE in dogs, an animal species with exceptionally high plasma IgE levels.2006In: Vaccine, ISSN 0264-410X, Vol. 24, no 1, p. 66-74Article in journal (Refereed)
  • 5.
    Salmon Hillbertz, Nicolette
    et al.
    Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences.
    Andersson, G
    Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences.
    Autosomal dominant mutation causing the dorsal ridge predisposes for dermoid sinus in Rhodesian ridgeback dogs.2006In: Journal of Small Animal Practice, ISSN 0022-4510, E-ISSN 1748-5827, Vol. 47, no 4, p. 184-8Article in journal (Refereed)
    Abstract [en]

    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.

  • 6.
    Salmon Hillbertz, Nicolette H. C.
    Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences.
    Inheritance of dermoid sinus in the Rhodesian ridgeback2005In: Journal of Small Animal Practice, ISSN 0022-4510, E-ISSN 1748-5827, Vol. 46, no 2, p. 71-4Article in journal (Refereed)
    Abstract [en]

    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.

  • 7.
    Salmon Hillbertz, Nicolette H. C.
    et al.
    Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences (SLU), Uppsala, Sweden.
    Isaksson, Magnus
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Karlsson, Elinor K.
    Hellmén, Eva
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Pielberg, Gerli Rosengren
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
    Savolainen, Peter
    Wade, Claire M.
    von Euler, Henrik
    Gustafson, Ulla
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
    Hedhammar, Åke
    Nilsson, Mats
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Lindblad-Toh, Kerstin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
    Andersson, Leif
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
    Andersson, Göran
    Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs2007In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 39, no 11, p. 1318-1320Article in journal (Refereed)
    Abstract [en]

    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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