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by Bjorn Olsen and Ernst J Reichenberger
Publication Date: 1996
Publication Name: Seminars in Cell & Developmental Biology
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Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws1 followed by development of fibrous tissue masses, which causes a characteristic facial swelling.... more
Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized
by excessive bone degradation of the upper and lower jaws1 followed by
development of fibrous tissue masses, which causes a characteristic facial swelling.
Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104)
on chromosome 4p16.3 that cause cherubism.
by excessive bone degradation of the upper and lower jaws1 followed by
development of fibrous tissue masses, which causes a characteristic facial swelling.
Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104)
on chromosome 4p16.3 that cause cherubism.
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Publication Date: 2012
Publication Name: Orphanet Journal of Rare Diseases
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Structural variation of type XII collagen at its carboxyl-terminal generated by tissue specific alternative splicingmore
by Ernst J Reichenberger and Bjorn Olsen
Publication Date: 1997
Publication Name: Matrix Biology
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Structural Variation of Type XII Collagen at Its Carboxyl-terminal NC1 Domain Generated by Tissue-specific Alternative Splicingmore
by Ernst J Reichenberger and Bjorn Olsen
This paper reports the identification of two structural variations in the NC1 domain of rat and mouse type XII collagen. The long NC1 domain encoding 74 amino acids showed homology to chicken type XII and XIV collagens. The short NC1... more
This paper reports the identification of two structural variations in the NC1 domain of rat and mouse type XII collagen. The long NC1 domain encoding 74 amino acids showed homology to chicken type XII and XIV collagens. The short NC1 domain was composed of 19 amino acids. Through genomic DNA analyses, two alternative exons were identified, each of which contained the variable NC1 sequence. With the amino-terminal NC3 splicing alternatives, we propose here a new descriptive nomenclature: types XIIA-1 and XIIB-1 which include a long NC1 sequence encoded by exon 1 (from the 3'-end), and types XIIA-2 and XIIB-2 which include a short NC1 sequence encoded by exon 2. Types XIIA-1 and XIIB-1, the predominant transcripts in 15-day old mouse embryos, showed decreased expression in 17-day old embryos when type XIIB-2 expression was sustained at constant levels. In adult mice, type XIIB-1 associates with ligament and tendon, whereas type XIIB-2 is expressed in various other tissues. The long NC1 domain contains an extended acidic region (pI = 3.4) followed by a terminal basic region (pI = 13.8). Because the short NC1 domain lacks these features, structural variations in the type XII collagen NC1 domain suggests different functional roles in a tissue-specific fashion.
Publication Date: 1999
Publication Name: Journal of Biological Chemistry
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Publication Date: 2000
Publication Name: Journal of Dental Research
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Publication Date: 2001
Publication Name: The American Journal of Human Genetics
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Publication Date: 2007
Publication Name: Cell
Research Interests: Inflammation, Biological Sciences, Spleen, Cell Differentiation, Mutation, and 15 moreMice, Animals, Cell, Osteoclasts, Proline, Phosphorylation, Mitogen Activated Protein Kinase, Tumor necrosis factor-alpha, Bone Loss, Arginine, Hematologic Diseases, Myeloid Cells, Bone Resorption, Bone Marrow Cells, and Lymph nodes
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Mutations in the serine/threonine kinase STK11 lead to Peutz-Jeghers syndrome (PJS) in a subset of affected individuals. Significant evidence for linkage to a second potential PJS disease locus on 19q13.4 has previously been described in... more
Mutations in the serine/threonine kinase STK11 lead to Peutz-Jeghers syndrome (PJS) in a subset of affected individuals. Significant evidence for linkage to a second potential PJS disease locus on 19q13.4 has previously been described in one PJS family (PJS07). In the current study, we investigated this second locus for PJS gene candidates. We mapped the main candidate gene in this region, the gene for the transmembrane-type protein tyrosine phosphatase H (PTPRH), within 15 kb telomeric to the marker D19S880. We determined its genomic structure, and performed mutation analysis of all exons and the exon-intron junctions of the PTPRH gene in the PJS07 family. No disease causing mutation was identified in PTPRH in affected individuals, suggesting the existence of an as yet not identified gene on 19q13.4 as a second PJS gene.
Publication Date: 2001
Publication Name: Cytogenetic and Genome Research
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by Ernst J Reichenberger and Bjorn Olsen
Publication Date: 1992
Publication Name: FEBS Letters
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Publication Name: The American Journal of Human Genetics
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Publication Date: 2001
Publication Name: Archives of Dermatology
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Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws followed by development of fibrous tissue masses, which causes a characteristic facial swelling.... more
Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws followed by development of fibrous tissue masses, which causes a characteristic facial swelling. Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism.
Publication Date: 2001
Publication Name: Journal of Craniofacial Surgery
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by Ernst J Reichenberger and Bjorn Olsen
Publication Date: 2004
Publication Name: Journal of Investigative Dermatology
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Publication Date: 2014
Publication Name: Cell Reports
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Research Interests: Information Systems, Genetics, Genomics, Polymorphism, Humans, and 15 moreMetabolic diseases, Expressed Sequence Tags, Polymerase Chain Reaction, Genetic linkage analysis, Physical chromosome mapping, Molecular cloning, Disease mapping, High Resolution, Physical Map, Base Sequence, Autosomal Recessive, Genetic Markers, Whole Body, Gene expression profiling, and Skin Neoplasms
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Publication Date: 1999
Publication Name: The American Journal of Human Genetics
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