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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04296naa a2200805 4500 | |
| 001 | oai:lup.lub.lu.se:7e566d4d-bbb5-483d-8ece-cf055181d971 | |
| 003 | SwePub | |
| 008 | 160401s2002 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:1954383 | |
| 024 | 7 | a https://lup.lub.lu.se/record/3222162 URI |
| 024 | 7 | a https://doi.org/10.1038/ng10482 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:19543832 URI |
| 040 | a (SwePub)lud (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a art2 swepub-publicationtype |
| 072 | 7 | a ref2 swepub-contenttype |
| 100 | 1 | a Carpten, JD4 aut |
| 245 | 1 0 | a HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome |
| 264 | c 2002-11-18 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2002 |
| 520 | a We report here the identification of a gene associated with the hyperparathyroidism-jaw tumor (HPT-JT) syndrome. A single locus associated with HPT-JT (HRPT2) was previously mapped to chromosomal region 1q25-q32. We refined this region to a critical interval of 12 cM by genotyping in 26 affected kindreds. Using a positional candidate approach, we identified thirteen different heterozygous, germline, inactivating mutations in a single gene in fourteen families with HPT-JT. The proposed role of HRPT2 as a tumor suppressor was supported by mutation screening in 48 parathyroid adenomas with cystic features, which identified three somatic inactivating mutations, all located in exon 1. None of these mutations were detected in normal controls, and all were predicted to cause deficient or impaired protein function. HRPT2 is a ubiquitously expressed, evolutionarily conserved gene encoding a predicted protein of 531 amino acids, for which we propose the name parafibromin. Our findings suggest that HRPT2 is a tumor-suppressor gene, the inactivation of which is directly involved in predisposition to HPT-JT and in development of some sporadic parathyroid tumors. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 700 | 1 | a Robbins, CM4 aut |
| 700 | 1 | a Villablanca, Au Karolinska Institutet4 aut |
| 700 | 1 | a Forsberg, L4 aut |
| 700 | 1 | a Presciuttini, S4 aut |
| 700 | 1 | a Bailey-Wilson, J4 aut |
| 700 | 1 | a Simonds, WF4 aut |
| 700 | 1 | a Gillanders, EM4 aut |
| 700 | 1 | a Kennedy, AM4 aut |
| 700 | 1 | a Chen, JD4 aut |
| 700 | 1 | a Agarwal, SK4 aut |
| 700 | 1 | a Sood, R4 aut |
| 700 | 1 | a Jones, MP4 aut |
| 700 | 1 | a Moses, TY4 aut |
| 700 | 1 | a Haven, C4 aut |
| 700 | 1 | a Petillo, D4 aut |
| 700 | 1 | a Leotlela, PD4 aut |
| 700 | 1 | a Harding, B4 aut |
| 700 | 1 | a Cameron, D4 aut |
| 700 | 1 | a Pannett, AA4 aut |
| 700 | 1 | a Hoog, Au Karolinska Institutet4 aut |
| 700 | 1 | a Heath, H4 aut |
| 700 | 1 | a James-Newton, LA4 aut |
| 700 | 1 | a Robinson, B4 aut |
| 700 | 1 | a Zarbo, RJ4 aut |
| 700 | 1 | a Cavaco, BM4 aut |
| 700 | 1 | a Wassif, W4 aut |
| 700 | 1 | a Perrier, ND4 aut |
| 700 | 1 | a Rosen, IB4 aut |
| 700 | 1 | a Kristoffersson, Ulfu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)kgen-ukr |
| 700 | 1 | a Turnpenny, PD4 aut |
| 700 | 1 | a Farnebo, LOu Karolinska Institutet4 aut |
| 700 | 1 | a Besser, GM4 aut |
| 700 | 1 | a Jackson, CE4 aut |
| 700 | 1 | a Morreau, H4 aut |
| 700 | 1 | a Trent, JM4 aut |
| 700 | 1 | a Thakker, RV4 aut |
| 700 | 1 | a Marx, SJ4 aut |
| 700 | 1 | a Teh, BT4 aut |
| 700 | 1 | a Larsson, Cu Karolinska Institutet4 aut |
| 700 | 1 | a Hobbs, MR4 aut |
| 710 | 2 | a Karolinska Institutetb Avdelningen för klinisk genetik4 org |
| 773 | 0 | t Nature Geneticsd : Springer Science and Business Media LLCg 32:4, s. 676-680q 32:4<676-680x 1546-1718x 1061-4036 |
| 856 | 4 | u http://dx.doi.org/10.1038/ng1048y FULLTEXT |
| 856 | 4 8 | u https://lup.lub.lu.se/record/322216 |
| 856 | 4 8 | u https://doi.org/10.1038/ng1048 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:1954383 |
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- Carpten, JD
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- Villablanca, A
- Forsberg, L
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- Bailey-Wilson, J
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- Simonds, WF
- Gillanders, EM
- Kennedy, AM
- Chen, JD
- Agarwal, SK
- Sood, R
- Jones, MP
- Moses, TY
- Haven, C
- Petillo, D
- Leotlela, PD
- Harding, B
- Cameron, D
- Pannett, AA
- Hoog, A
- Heath, H
- James-Newton, LA
- Robinson, B
- Zarbo, RJ
- Cavaco, BM
- Wassif, W
- Perrier, ND
- Rosen, IB
- Kristoffersson, ...
- Turnpenny, PD
- Farnebo, LO
- Besser, GM
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- Thakker, RV
- Marx, SJ
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- Larsson, C
- Hobbs, MR
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