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51

The purification and application of biologically active recombinant steroid cytochrome P450 21-hydroxylase: The major autoantigen in autoimmune Addison's disease

Eirik Bratland, Geir Bredholt, Gunnar Mellgren, Per M. Knappskog, Edna Mozes, Eystein S. Husebye

Journal:

Journal of Autoimmunity

Year:

2009

Language:

english

File:

PDF, 462 KB

english, 2009

52

Effect of CYP19 rs6493497 and rs7176005 haplotype status on in vivo aromatase transcription, plasma and tissue estrogen levels in postmenopausal women

Anne Hege Straume, Stian Knappskog, Per Eystein Lønning

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Year:

2012

Language:

english

File:

PDF, 902 KB

english, 2012

53

Expression and purification of human tryptophan hydroxylase from Escherichia coli and Pichia pastoris

Jeffrey McKinney, Per M Knappskog, Jacinto Pereira, Trude Ekern, Karen Toska, Baukje B Kuitert, David Levine, Angela M Gronenborn, Aurora Martinez, Jan Haavik

Journal:

Protein Expression and Purification

Year:

2004

Language:

english

File:

PDF, 213 KB

english, 2004

54

Recent data on intratumor estrogens in breast cancer

Per E. Lønning, Ben P. Haynes, Anne H. Straume, Anita Dunbier, Hildegunn Helle, Stian Knappskog, Mitch Dowsett

Journal:

Year:

2011

Language:

english

File:

PDF, 272 KB

english, 2011

55

Crystallization and preliminary diffraction analysis of a truncated homodimer of human phenylalanine hydroxylase

Heidi Erlandsen, Aurora Martinez, Per M Knappskog, Jan Haavik, Edward Hough, Torgeir Flatmark

Journal:

Year:

1997

Language:

english

File:

PDF, 357 KB

english, 1997

56

Effect of mutations at Cys237 on the activation state and activity of human phenylalanine hydroxylase

Per M. Knappskog, Aurora Martı́nez

Journal:

Year:

1997

Language:

english

File:

PDF, 604 KB

english, 1997

57

Domain structure and stability of human phenylalanine hydroxylase inferred from infrared spectroscopy

Rosana Chehin, Matthias Thorolfsson, Per M Knappskog, Aurora Martinez, Torgeir Flatmark, Jose Luis R Arrondo, Arturo Muga

Journal:

Year:

1998

Language:

english

File:

PDF, 161 KB

english, 1998

58

Diverse PAH transcripts in lymphocytes of PKU patients with putative nonsense (G272X, Y356X) and missense (P281L, R408Q) mutations

Ståle Ellingsen, Per M Knappskog, Jaran Apold, Hans Geir Eiken

Journal:

Year:

1999

Language:

english

File:

PDF, 240 KB

english, 1999

59

Cold-Induced Sweating Syndrome Is Caused by Mutations in the CRLF1 Gene

Per M. Knappskog, Jacek Majewski, Avi Livneh, Per Torgeir E. Nilsen, Jorunn S. Bringsli, Jürg Ott, Helge Boman

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 466 KB

english, 2003

60

Re: Murine double minute 2 promoter SNP309 polymorphism and prostate cancer risk: a meta-analysis

Stian Knappskog

Journal:

International Journal of Urology

Year:

2012

Language:

english

File:

PDF, 73 KB

english, 2012

61

Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome

Tord C. Olsen,Hans G. Eiken,Per M. Knappskog,Bengt F. Kase…

Journal:

Year:

1996

Language:

english

File:

PDF, 570 KB

english, 1996

62

Increased NKCC1 expression in arachnoid cysts supports secretory basis for cyst formation

Christian A. Helland, Mads Aarhus, Per Knappskog, Lisa K. Olsson, Morten Lund-Johansen, Mahmood Amiry-Moghaddam, Knut Wester

Journal:

Experimental Neurology

Year:

2010

Language:

english

File:

PDF, 603 KB

english, 2010

63

A forensic DNA profiling system for Northern European brown bears (Ursus arctos)

R. Andreassen, J. Schregel, A. Kopatz, C. Tobiassen, P.M. Knappskog, S.B. Hagen, O. Kleven, M. Schneider, I. Kojola, J. Aspi, A. Rykov, K.F. Tirronen, P.I. Danilov, H.G. Eiken

Journal:

Forensic Science International: Genetics

Year:

2012

Language:

english

File:

PDF, 798 KB

english, 2012

64

Population data for 12 STR loci in Northern European brown bear (Ursus arctos) and application of DNA profiles for forensic casework

H.G. Eiken, R.J. Andreassen, A. Kopatz, S.G. Bjervamoen, I. Wartiainen, C. Tobiassen, P.M. Knappskog, P.E. Aspholm, M.E. Smith, J. Aspi

Journal:

Forensic Science International: Genetics Supplement Series

Year:

2009

Language:

english

File:

PDF, 96 KB

english, 2009

65

The level of synthesis and secretion of Gaussia princeps luciferase in transfected CHO cells is heavily dependent on the choice of signal peptide

Stian Knappskog, Hanne Ravneberg, Christine Gjerdrum, Christiane Tröβe, Beate Stern, Ian F. Pryme

Journal:

Journal of Biotechnology

Year:

2007

Language:

english

File:

PDF, 528 KB

english, 2007

66

S.06.05 From synthesis to uptake – serotonergic genes in adult ADHD

J. Haavik, S. Johansson, P.M. Knappskog, I. Winge, J.A. McKinney, A. Halmeiy, E.T. Landaas

Journal:

European Neuropsychopharmacology

Year:

2009

Language:

english

File:

PDF, 105 KB

english, 2009

67

Low expression levels of ATM may substitute forCHEK2/TP53mutations predicting resistance towards anthracycline and mitomycin chemotherapy in breast cancer

Stian Knappskog, Ranjan Chrisanthar, Erik Løkkevik, Gun Anker, Bjørn Østenstad, Steinar Lundgren, Terje Risberg, Ingvil Mjaaland, Beryl Leirvaag, Hrvoje Miletic, Per E Lønning

Journal:

Breast Cancer Research

Year:

2012

Language:

english

File:

PDF, 453 KB

english, 2012

68

Chemosensitivity and p53; new tricks by an old dog

Per E Lønning, Stian Knappskog

Journal:

Breast Cancer Research

Year:

2012

Language:

english

File:

PDF, 89 KB

english, 2012

69

Detection of vibrio salmonicida bacteria in blood from atlantic salmon using sandwich elisa

E.R. Nilsen, D.H. Knappskog, E. Digranes, C. Endresen

Journal:

Developmental & Comparative Immunology

Year:

1989

Language:

english

File:

PDF, 72 KB

english, 1989

70

Cold-induced sweating syndrome A report of two cases and demonstration of genetic heterogeneity

A.F. Hahn, D.L. Jones, P.M. Knappskog, H. Boman, J.G. McLeod

Journal:

Journal of the Neurological Sciences

Year:

2006

Language:

english

File:

PDF, 576 KB

english, 2006

71

Cold-induced sweating syndrome: CISS1 and CISS2: Manifestations from infancy to adulthood. Four new cases

A.F. Hahn, P.E. Waaler, P.H. Kvistad, J.S. Bamforth, J.H. Miles, J.G. McLeod, P.M. Knappskog, H. Boman

Journal:

Journal of the Neurological Sciences

Year:

2010

Language:

english

File:

PDF, 476 KB

english, 2010

72

Effect of theMDM2promoter polymorphisms SNP309T>G and SNP285G>C on the risk of ovarian cancer inBRCA1mutation carriers

Merete Bjørnslett, Stian Knappskog, Per Eystein Lønning, Anne Dørum

Journal:

Year:

2012

Language:

english

File:

PDF, 251 KB

english, 2012

73

Inverse correlation betweenPDGFCexpression and lymphocyte infiltration in human papillary thyroid carcinomas

Ove Bruland, Øystein Fluge, Lars A Akslen, Hans G Eiken, Johan R Lillehaug, Jan E Varhaug, Per M Knappskog

Journal:

Year:

2009

Language:

english

File:

PDF, 1.56 MB

english, 2009

74

Identification and characterization of retinoblastoma gene mutations disturbing apoptosis in human breast cancers

Elisabet Ognedal Berge, Stian Knappskog, Stephanie Geisler, Vidar Staalesen, Marec Pacal, Anne-Lise Børresen-Dale, Pål Puntervoll, Johan Richard Lillehaug, Per Eystein Lønning

Journal:

Molecular Cancer

Year:

2010

Language:

english

File:

PDF, 2.23 MB

english, 2010

75

Microarray-based gene expression profiling and DNA copy number variation analysis of temporal fossa arachnoid cysts

Mads Aarhus, Christian A Helland, Morten Lund-Johansen, Knut Wester, Per M Knappskog

Journal:

Fluids and Barriers of the CNS

Year:

2010

Language:

english

File:

PDF, 610 KB

english, 2010

76

Correlation analysis of p53 protein isoforms with NPM1/FLT3 mutations and therapy response in acute myeloid leukemia

Ånensen, N, Hjelle, S M, Van Belle, W, Haaland, I, Silden, E, Bourdon, J-C, Hovland, R, Taskén, K, Knappskog, S, Lønning, P E, Bruserud, Ø, Gjertsen, B T

Journal:

Year:

2012

Language:

english

File:

PDF, 876 KB

english, 2012

77

Tryptophan Fluorescence of Human Phenylalanine Hydroxylase Produced in Escherichia coli

Knappskog, Per M., Haavik, Jan

Journal:

Year:

1995

Language:

english

File:

PDF, 1.76 MB

english, 1995

78

P53 and its molecular basis to chemoresistance in breast cancer

Knappskog, Stian, Lønning, Per Eystein

Journal:

Expert Opinion on Therapeutic Targets

Year:

2012

Language:

english

File:

PDF, 361 KB

english, 2012

79

Three-Dimensional Structure of Human Tryptophan Hydroxylase and Its Implications for the Biosynthesis of the Neurotransmitters Serotonin and Melatonin †,‡

Wang, Lin, Erlandsen, Heidi, Haavik, Jan, Knappskog, Per M., Stevens, Raymond C.

Journal:

Year:

2002

Language:

english

File:

PDF, 348 KB

english, 2002

80

Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification

Rafaelsen, Silje Hjorth, Raeder, Helge, Fagerheim, Anne Kristine, Knappskog, Per, Carpenter, Thomas O, Johansson, Stefan, Bjerknes, Robert

Journal:

Journal of Bone and Mineral Research

Year:

2013

Language:

english

File:

PDF, 776 KB

english, 2013

81

Stability of glycoprotein gene sequences of herpes simplex virus type 2 from primary to recurrent human infection, and diversity of the sequences among patients attending an STD clinic

Haarr, Lars, Nilsen, Arvid, Knappskog, Per M, Langeland, Nina

Journal:

BMC Infectious Diseases

Year:

2014

Language:

english

File:

PDF, 208 KB

english, 2014

82

Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation

Haugarvoll, Kristoffer, Tzoulis, Charalampos, Tran, Gia T., Karlsen, Bjørn, Engelsen, Bernt A., Knappskog, Per M., Bindoff, Laurence A.

Journal:

Journal of Neurology

Year:

2014

Language:

english

File:

PDF, 222 KB

english, 2014

83

LowBRAFandNRASexpression levels are associated with clinical benefit from DTIC therapy and prognosis in metastatic melanoma

Birkeland, Einar, Busch, Christian, Berge, Elisabet Ognedal, Geisler, Jürgen, Jönsson, Göran, Lillehaug, Johan Richard, Knappskog, Stian, Lønning, Per Eystein

Journal:

Clinical and Experimental Metastasis

Year:

2013

Language:

english

File:

PDF, 431 KB

english, 2013

84

Functional characterisation of p53 mutants identified in breast cancers with suboptimal responses to anthracyclines or mitomycin

Berge, Elisabet O., Huun, Johanna, Lillehaug, Johan R., Lønning, Per E., Knappskog, Stian

Journal:

Biochimica et Biophysica Acta (BBA) - General Subjects

Year:

2013

Language:

english

File:

PDF, 1.01 MB

english, 2013

85

Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity

Bratland, Eirik, Magitta, Ng’weina Francis, Bøe Wolff, Anette Susanne, Ekern, Trude, Knappskog, Per Morten, Kämpe, Olle, Haavik, Jan, Husebye, Eystein Sverre

Journal:

Year:

2013

Language:

english

File:

PDF, 1.54 MB

english, 2013

86

Variants of Anterior Segment Dysgenesis and Cerebral Involvement in a Large Family With a Novel COL4A1 Mutation

Rødahl, Eyvind, Knappskog, Per M., Majewski, Jacek, Johansson, Stefan, Telstad, Wenche, Kråkenes, Jostein, Boman, Helge

Journal:

American Journal of Ophthalmology

Year:

2013

Language:

english

File:

PDF, 815 KB

english, 2013

87

Effects of SNP variants in the 17β-HSD2 and 17β-HSD7 genes and 17β-HSD7 copy number on gene transcript and estradiol levels in breast cancer tissue

Straume, Anne Hege, Knappskog, Stian, Lønning, Per Eystein

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Year:

2014

Language:

english

File:

PDF, 1.35 MB

english, 2014

88

Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene

Tüysüz, Beyhan, Kasapçopur, Özgür, Yalçınkaya, Cengiz, Işık Haşıloğlu, Zehra, Knappskog, Per M., Boman, Helge

Journal:

Brain and Development

Year:

2013

Language:

english

File:

PDF, 957 KB

english, 2013

89

Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in Dopa-Responsive Dystonia

Fossbakk, Agnete, Kleppe, Rune, Knappskog, Per M., Martinez, Aurora, Haavik, Jan

Journal:

Year:

2014

Language:

english

File:

PDF, 1.10 MB

english, 2014

90

MDM2 SNP309 and risk of cervical cancer

Knappskog, Stian, Lønning, Per Eystein

Journal:

Year:

2014

Language:

english

File:

PDF, 86 KB

english, 2014

91

Identification of a Gene for Renal-Hepatic-Pancreatic Dysplasia by Microarray-Based Homozygosity Mapping

Fiskerstrand, Torunn, Houge, Gunnar, Sund, Staale, Scheie, David, Leh, Sabine, Boman, Helge, Knappskog, Per M.

Journal:

The Journal of Molecular Diagnostics

Year:

2010

Language:

english

File:

PDF, 1.21 MB

english, 2010

92

Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer

Nik-Zainal, Serena, Wedge, David C, Alexandrov, Ludmil B, Petljak, Mia, Butler, Adam P, Bolli, Niccolo, Davies, Helen R, Knappskog, Stian, Martin, Sancha, Papaemmanuil, Elli, Ramakrishna, Manasa, Shli

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 431 KB

english, 2014

93

MDM2SNP309 and risk of endometrial cancer

Stian Knappskog,Per Eystein Lønning

Journal:

Year:

2014

Language:

english

File:

PDF, 72 KB

english, 2014

94

Conformation of the Substrate and Pterin Cofactor Bound to Human Tryptophan Hydroxylase. Important Role of Phe313 in Substrate Specificity †

McKinney, Jeffrey, Teigen, Knut, Frøystein, Nils Åge, Salaün, Clotilde, Knappskog, Per M., Haavik, Jan, Martínez, Aurora

Journal:

Year:

2001

Language:

english

File:

PDF, 444 KB

english, 2001

95

RINF (CXXC5) is overexpressed in solid tumors and is an unfavorable prognostic factor in breast cancer

Knappskog, S., Myklebust, L. M., Busch, C., Aloysius, T., Varhaug, J. E., Lonning, P. E., Lillehaug, J. R., Pendino, F.

Journal:

Annals of Oncology

Year:

2011

Language:

english

File:

PDF, 724 KB

english, 2011

96

Mapping genetic alterations causing chemoresistance in cancer: identifying the roads by tracking the drivers

Lønning, P E, Knappskog, S

Journal:

Year:

2013

Language:

english

File:

PDF, 1.12 MB

english, 2013

97

Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene

Knappskog, P. M., Flatmark, T., Mallet, J., L decke, B., Bartholome, K.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.92 MB

english, 1995

98

Phosphorylation and Mutations of Ser16 in Human Phenylalanine Hydroxylase: KINETIC AND STRUCTURAL EFFECTS

Miranda, F. F., Teigen, K., Thorolfsson, M., Svebak, R. M., Knappskog, P. M., Flatmark, T., Martinez, A.

Journal:

Journal of Biological Chemistry

Year:

2002

Language:

english

File:

PDF, 785 KB

english, 2002

99

Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I

Boe, A., Knappskog, P., Myhre, A., Sorheim, J., Husebye, E.

Journal:

European Journal of Endocrinology

Year:

2002

Language:

english

File:

PDF, 74 KB

english, 2002

100

Decorin Accumulation Contributes to the Stromal Opacities Found in Congenital Stromal Corneal Dystrophy

Bredrup, Cecilie, Stang, Espen, Bruland, Ove, Palka, Barbara P., Young, Robert D., Haavik, Jan, Knappskog, Per M., Rødahl, Eyvind

Journal:

Investigative Ophthalmology & Visual Science

Year:

2010

Language:

english

File:

PDF, 956 KB

english, 2010