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Publications (10 of 31) Show all publications
Larsson, A., Karnevi, E., Nodin, B., Sorbye, H., Dragomir, A., Pfeiffer, P., . . . Ponten, F. (2018). Expression of podocalyxin-like protein and epidermal growth factor receptor in metastatic colorectal cancer: Prognostic impact and relationship with response to cetuximab.. In: : . Paper presented at ASCO 2018.
Open this publication in new window or tab >>Expression of podocalyxin-like protein and epidermal growth factor receptor in metastatic colorectal cancer: Prognostic impact and relationship with response to cetuximab.
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2018 (English)Conference paper, Poster (with or without abstract) (Refereed)
National Category
Cancer and Oncology
Identifiers
urn:nbn:se:uu:diva-365898 (URN)
Conference
ASCO 2018
Available from: 2018-11-14 Created: 2018-11-14 Last updated: 2018-11-14
Lindahl, K., Astrom, E., Dragomir, A., Symoens, S., Coucke, P., Larsson, S., . . . Kindmark, A. (2018). Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy. Bone, 114, 268-277
Open this publication in new window or tab >>Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy
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2018 (English)In: Bone, ISSN 8756-3282, E-ISSN 1873-2763, Vol. 114, p. 268-277Article in journal (Refereed) Published
Abstract [en]

Background: Mutations of the endoplasmic reticulum (ER) stress transducer OASIS (encoded by CREB3L1), cause severe recessive osteogenesis imperfecta (OI) not compatible with surviving the neonatal period, as has been shown in two unrelated families through a whole gene deletion vs. a qualitative alteration of OASIS Heterozygous carriers in the described families have exhibited a mild phenotype. OASIS is a transcription factor highly expressed in osteoblasts, and OASIS(-/-) mice exhibit severe osteopenia and spontaneous fractures. Here, we expand the clinical spectrum by a detailed phenotypic characterization of the first case of OASIS-associated OI surviving the neonatal period, with heterozygous family members being unaffected.

Methods: All OI-associated genes were sequenced. Primary human osteoblast-like cell (hOB) and fibroblast (FB) cultures were obtained for qPCR, and steady-state collagen biochemistry. FB, hOB and skin biopsies were ultrastructurally analyzed. Bone was analyzed by |mu CT, histomorphometry, quantitative backscattered electron imaging (qBEI), and Raman microspectroscopy.

Results: The proband, a boy with severe OI, had blue sclera and tooth agenesis A homozygous CREB3L1 stop codon mutation was detected by sequencing, while several family members were heterozygotes Markedly low levels of CREB3L1 mRNA were confirmed by qPCR in hOBs (16%) and FB (21%), however, collagen I levels were only reduced in hOBs (5-10%) Electron microscopy of hOBs showed pronounced alterations, with numerous myelin figures and diminished RER vs. normal ultrastructure of FB. Bone histomorphometry and qBEI were similar to collagen I OI, with low trabecular thickness and mineral apposition rate, and increased bone matrix mineralization. Raman microspectroscopy revealed low level of glycosaminoglycans. Clinical response to lifelong bisphosphonate treatment was as expected in severe OI with steadily increasing bone mineral density, but despite this the boy suffered repeated childhood fractures.

Conclusions: Deficiency of OASIS can cause severe OI compatible with surviving the neonatal period A marked decrease of collagen type I transcription was noted in bone tissue, but not in skin, and ultrastructure of hOBs was pathological. Results also suggested OASIS involvement in glycosaminoglycan secretion in bone.

Keywords
Osteogenesis imperfecta, Recessive, Collagen type 1, Glycosaminoglycan, OASIS, CREB3L1
National Category
Orthopaedics
Identifiers
urn:nbn:se:uu:diva-362634 (URN)10.1016/j.bone.2018.06.019 (DOI)000441369000029 ()29936144 (PubMedID)
Available from: 2018-10-09 Created: 2018-10-09 Last updated: 2018-10-09Bibliographically approved
Hotz, A., Fagerberg, C., Vahlquist, A., Bygum, A., Törmä, H., Rauschendorf, M.-A., . . . Fischer, J. (2018). Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis [Letter to the editor]. British Journal of Dermatology, 178(3), E207-E209
Open this publication in new window or tab >>Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis
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2018 (English)In: British Journal of Dermatology, ISSN 0007-0963, E-ISSN 1365-2133, Vol. 178, no 3, p. E207-E209Article in journal, Letter (Other academic) Published
National Category
Dermatology and Venereal Diseases
Identifiers
urn:nbn:se:uu:diva-357658 (URN)10.1111/bjd.15994 (DOI)000428701000008 ()28906551 (PubMedID)
Available from: 2018-08-24 Created: 2018-08-24 Last updated: 2018-08-24Bibliographically approved
Mezheyeuski, A., Strell, C., Hrynchyk, I., Guren, T. K., Dragomir, A., Doroshenko, T., . . . Portyanko, A. (2018). Treatment-related survival associations of claudin-2 expression in fibroblasts of colorectal cancer. Virchows Archiv, 472(3), 395-405
Open this publication in new window or tab >>Treatment-related survival associations of claudin-2 expression in fibroblasts of colorectal cancer
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2018 (English)In: Virchows Archiv, ISSN 0945-6317, E-ISSN 1432-2307, Vol. 472, no 3, p. 395-405Article in journal (Refereed) Published
Abstract [en]

Claudin-2 is a trans-membrane protein-component of tight junctions in epithelial cells. Elevated claudin-2 expression has been reported in colorectal cancer (CRC). The aim of this study was to investigate the expression patterns of claudin-2 in human CRC samples and analyze its association with clinical characteristics and treatment outcome. TMAs of primary tumors from two cohorts of metastatic CRC (mCRC) were used. Claudin-2 IHC staining was evaluated in a semi-quantitative manner in different regions and cell types. Claudin-2 expression was also analyzed by immunofluorescence in primary cultures of human CRC cancer-associated fibroblasts (CAFs). Initial analyses identified previously unrecognized expression patterns of claudin-2 in CAFs of human CRC. Claudin-2 expression in CAFs of the invasive margin was associated with shorter progression-free survival. Subgroup analyses demonstrated that the survival associations occurred among cases that received 5-FU+oxaliplatin combination treatment, but not in patients receiving 5-FU +/- irinotecan. The finding was validated by analyses of the independent cohort. In summary, previously unreported stromal expression of claudin-2 in CAFs of human CRC was detected together with significant association between high claudin-2 expression in CAFs and shorter survival in 5-FU+oxaliplatin-treated mCRC patients.

Place, publisher, year, edition, pages
SPRINGER, 2018
Keywords
Colorectal cancer, Cell adhesion, Claudin-2, Cancer-associated fibroblasts
National Category
Cancer and Oncology
Identifiers
urn:nbn:se:uu:diva-352989 (URN)10.1007/s00428-017-2263-3 (DOI)000429350100009 ()29134439 (PubMedID)
Funder
The Cancer Research Funds of RadiumhemmetSwedish Research CouncilSwedish Cancer SocietySwedish Institute
Available from: 2018-07-17 Created: 2018-07-17 Last updated: 2018-07-17Bibliographically approved
Feresiadou, A., Casar Borota, O., Dragomir, A., Oldfors, C. H., Stålberg, E. & Oldfors, A. (2018). Tubular aggregates in congenital myasthenic syndrome. Neuromuscular Disorders, 28(2), 174-175
Open this publication in new window or tab >>Tubular aggregates in congenital myasthenic syndrome
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2018 (English)In: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 28, no 2, p. 174-175Article in journal, Editorial material (Other academic) Published
Place, publisher, year, edition, pages
PERGAMON-ELSEVIER SCIENCE LTD, 2018
National Category
Neurology
Identifiers
urn:nbn:se:uu:diva-356900 (URN)10.1016/j.nmd.2017.11.009 (DOI)000428487300011 ()29311015 (PubMedID)
Funder
Swedish Research Council, 2012-201
Available from: 2018-08-09 Created: 2018-08-09 Last updated: 2018-08-09Bibliographically approved
Suveer, A., Sladoje, N., Lindblad, J., Dragomir, A. & Sintorn, I.-M. (2017). Cilia ultrastructural visibility enhancement by multiple instance registration and super-resolution reconstruction. In: Swedish Symposium on Image Analysis: . Swedish Society for Automated Image Analysis
Open this publication in new window or tab >>Cilia ultrastructural visibility enhancement by multiple instance registration and super-resolution reconstruction
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2017 (English)In: Swedish Symposium on Image Analysis, Swedish Society for Automated Image Analysis , 2017Conference paper, Published paper (Other academic)
Place, publisher, year, edition, pages
Swedish Society for Automated Image Analysis, 2017
National Category
Medical Image Processing
Research subject
Computerized Image Processing
Identifiers
urn:nbn:se:uu:diva-335371 (URN)
Available from: 2017-12-04 Created: 2017-12-04 Last updated: 2018-08-24
Gupta, A., Suveer, A., Lindblad, J., Dragomir, A., Sintorn, I.-M. & Sladoje, N. (2017). Convolutional neural networks for false positive reduction of automatically detected cilia in low magnification TEM images. In: Image Analysis: Part I. Paper presented at SCIA 2017, June 12–14, Tromsø, Norway (pp. 407-418). Springer
Open this publication in new window or tab >>Convolutional neural networks for false positive reduction of automatically detected cilia in low magnification TEM images
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2017 (English)In: Image Analysis: Part I, Springer, 2017, p. 407-418Conference paper, Published paper (Refereed)
Abstract
Place, publisher, year, edition, pages
Springer, 2017
Series
Lecture Notes in Computer Science, ISSN 0302-9743 ; 10269
National Category
Computer Vision and Robotics (Autonomous Systems)
Research subject
Computerized Image Processing
Identifiers
urn:nbn:se:uu:diva-334218 (URN)10.1007/978-3-319-59126-1_34 (DOI)978-3-319-59125-4 (ISBN)
Conference
SCIA 2017, June 12–14, Tromsø, Norway
Funder
VINNOVA, 2016-02329
Available from: 2017-05-19 Created: 2017-11-21 Last updated: 2018-08-24Bibliographically approved
Suveer, A., Sladoje, N., Lindblad, J., Dragomir, A. & Sintorn, I.-M. (2017). Enhancement of cilia sub-structures by multiple instance registration and super-resolution reconstruction. In: Image Analysis: Part II. Paper presented at SCIA 2017, June 12–14, Tromsø, Norway (pp. 362-374). Springer
Open this publication in new window or tab >>Enhancement of cilia sub-structures by multiple instance registration and super-resolution reconstruction
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2017 (English)In: Image Analysis: Part II, Springer, 2017, p. 362-374Conference paper, Published paper (Refereed)
Place, publisher, year, edition, pages
Springer, 2017
Series
Lecture Notes in Computer Science, ISSN 0302-9743 ; 10270
National Category
Medical Image Processing
Research subject
Computerized Image Processing
Identifiers
urn:nbn:se:uu:diva-334225 (URN)10.1007/978-3-319-59129-2_31 (DOI)978-3-319-59128-5 (ISBN)
Conference
SCIA 2017, June 12–14, Tromsø, Norway
Available from: 2017-05-19 Created: 2017-11-21 Last updated: 2018-08-24Bibliographically approved
Gupta, A., Suveer, A., Lindblad, J., Dragomir, A., Sintorn, I.-M. & Sladoje, N. (2017). False positive reduction of cilia detected in low resolution TEM images using a convolutional neural network. In: Swedish Symposium on Image Analysis: . Paper presented at SWEDISH SYMPOSIUM ON IMAGE ANALYSIS 2017 (SSBA), 13-15 March 2017, Linköping, Sweden. Swedish Society for Automated Image Analysis
Open this publication in new window or tab >>False positive reduction of cilia detected in low resolution TEM images using a convolutional neural network
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2017 (English)In: Swedish Symposium on Image Analysis, Swedish Society for Automated Image Analysis , 2017Conference paper, Published paper (Other academic)
Place, publisher, year, edition, pages
Swedish Society for Automated Image Analysis, 2017
National Category
Medical Image Processing
Research subject
Computerized Image Processing
Identifiers
urn:nbn:se:uu:diva-335454 (URN)
Conference
SWEDISH SYMPOSIUM ON IMAGE ANALYSIS 2017 (SSBA), 13-15 March 2017, Linköping, Sweden
Available from: 2017-12-05 Created: 2017-12-05 Last updated: 2018-08-24Bibliographically approved
Siesing, C., Sorbye, H., Dragomir, A., Pfeiffer, P., Qvortrup, C., Pontén, F., . . . Eberhard, J. (2017). High RBM3 expression is associated with an improved survival and oxaliplatin response in patients with metastatic colorectal cancer. PLoS ONE, 12(8), Article ID e0182512.
Open this publication in new window or tab >>High RBM3 expression is associated with an improved survival and oxaliplatin response in patients with metastatic colorectal cancer
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2017 (English)In: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 12, no 8, article id e0182512Article in journal (Refereed) Published
Abstract [en]

Background: High expression of the RNA-binding motif protein 3 (RBM3) has been shown to correlate, with prolonged survival in several malignant diseases and with the benefit of platinumbased chemotherapy in ovarian cancer. The aim of this study was to evaluate RBM3 in metastatic colorectal cancer (mCRC) as a prognostic factor for overall survival and in relation to benefit of first-line chemotherapy.

Methods: Immunohistochemical staining was conducted and evaluated in tumours from 455 mCRC patients. Kaplan- Meier analysis and Cox regression proportional hazards models were used to access the impact of RBM3 expression on overall survival (OS) and progressionfree survival (PFS).

Results: High RBM3 expression, both nuclear and cytoplasmic, was an independent prognostic factor for prolonged OS (hazard ratio [HR] 0.67, 95% confidence interval [CI] 0.50-0.90 and HR 0.66, 95% CI 0.48-0.91, respectively). PFS was significantly longer in patients with high RBM3 expression who had received first-line oxaliplatin based treatment, compared to those who had received irinotecan based treatment, both regarding nuclear and cytoplasmic expression (p-value 0.020 and 0.022 respectively).

Conclusion: High RBM3 expression is an independent predictor of prolonged survival in mCRC patients, in particular in patients treated with first-line oxaliplatin based chemotherapy.

Place, publisher, year, edition, pages
PUBLIC LIBRARY SCIENCE, 2017
National Category
Cancer and Oncology
Identifiers
urn:nbn:se:uu:diva-334311 (URN)10.1371/journal.pone.0182512 (DOI)000407431800019 ()28800641 (PubMedID)
Funder
Swedish Research CouncilSwedish Cancer SocietyThe Kamprad Family FoundationKnut and Alice Wallenberg FoundationGunnar Nilsson Cancer Foundation
Available from: 2017-11-23 Created: 2017-11-23 Last updated: 2017-11-29Bibliographically approved
Organisations
Identifiers
ORCID iD: ORCID iD iconorcid.org/0000-0003-2777-8114

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