Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia
Jansen's metaphyseal chondrodysplasia 1 is a rare form of short-limbed dwarfism caused by severe abnormalities of the growth plates. The condition is typically associated with asymptomatic hypercalcemia and hypercalciuria due to increased bone resorption, which develops during the first months...
Saved in:
Published in | The New England journal of medicine Vol. 335; no. 10; pp. 708 - 714 |
---|---|
Main Authors | , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Boston, MA
Massachusetts Medical Society
05.09.1996
|
Subjects | |
Online Access | Get full text |
ISSN | 0028-4793 1533-4406 |
DOI | 10.1056/NEJM199609053351004 |
Cover
Abstract | Jansen's metaphyseal chondrodysplasia
1
is a rare form of short-limbed dwarfism caused by severe abnormalities of the growth plates. The condition is typically associated with asymptomatic hypercalcemia and hypercalciuria due to increased bone resorption, which develops during the first months of life, despite normal or low serum concentrations of parathyroid hormone (PTH) and parathyroid hormone–related peptide (PTHrP).
2
–
10
Both peptides mediate their biologic actions through the PTH–PTHrP receptor, which belongs to a distinct family of G protein–coupled receptors,
11
has dual signaling properties, and is expressed in many fetal and adult tissues, although most abundantly in kidney, bone, and growth-plate cartilage.
12
– . . . |
---|---|
AbstractList | An activating mutation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) was recently found in a patient with Jansen's metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two hormones. To investigate this and other activating mutations and to refine the classification of this unusual disorder, we analyzed genomic DNA from six additional patients with Jansen's disease. Exons encoding the PTH-PTHrP receptor were amplified by the polymerase chain reaction (PCR), and the products were analyzed by gel electrophoresis or direct nucleotide-sequence analysis. Nucleotide changes were confirmed by restriction-enzyme digestion of genomic DNA or the PCR products. The previously reported mutation, which changes a histidine at position 223 to arginine (H223R), was found in genomic DNA from three of the six patients but not in DNA from their healthy relatives or 45 unrelated normal subjects. A novel missense mutation that changes a threonine in the receptor's sixth membrane-spanning region to proline (T410P) was identified in another patient but not in 62 normal subjects. In two patients with radiologic evidence of Jansen's metaphyseal chondrodysplasia but less severe hypercalcemia, no receptor mutations were detected. In COS-7 cells expressing PTH-PTHrP receptors with the T410P or H223R mutation, basal cyclic AMP accumulation was four to six times higher than in cells expressing wild-type receptors. The expression of constitutively active PTH-PTHrP receptors in kidney, bone, and growth-plate chondrocytes provides a plausible genetic explanation for mineral-ion abnormalities and metaphyseal changes in patients with Jansen's disease. Jansen's metaphyseal chondrodysplasia 1 is a rare form of short-limbed dwarfism caused by severe abnormalities of the growth plates. The condition is typically associated with asymptomatic hypercalcemia and hypercalciuria due to increased bone resorption, which develops during the first months of life, despite normal or low serum concentrations of parathyroid hormone (PTH) and parathyroid hormone–related peptide (PTHrP). 2 – 10 Both peptides mediate their biologic actions through the PTH–PTHrP receptor, which belongs to a distinct family of G protein–coupled receptors, 11 has dual signaling properties, and is expressed in many fetal and adult tissues, although most abundantly in kidney, bone, and growth-plate cartilage. 12 – . . . An activating mutation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) was recently found in a patient with Jansens's metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two hormones. To investigate this and other activating mutations and to refine the classification of this unusual disorder, we analyzed genomic DNA from six additional patients with Jansen's disease.BACKGROUNDAn activating mutation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) was recently found in a patient with Jansens's metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two hormones. To investigate this and other activating mutations and to refine the classification of this unusual disorder, we analyzed genomic DNA from six additional patients with Jansen's disease.Exons encoding the PTH-PTHrP receptor were amplified by the polymerase chain reaction (PCR), and the products were analyzed by gel electrophoresis or direct nucleotide-sequence analysis. Nucleotide changes were confirmed by restriction-enzyme digestion of genomic DNA or the PCR products.METHODSExons encoding the PTH-PTHrP receptor were amplified by the polymerase chain reaction (PCR), and the products were analyzed by gel electrophoresis or direct nucleotide-sequence analysis. Nucleotide changes were confirmed by restriction-enzyme digestion of genomic DNA or the PCR products.The previously reported mutation, which changes a histidine at position 223 to arginine (H223R), was found in genomic DNA from three of the six patients but not in DNA from their healthy relatives or 45 unrelated normal subjects. A novel missense mutation that changes a threonine in the receptor's sixth membrane-spanning region to proline (T410P) was identified in another patient but not in 62 normal subjects. In two patients with radiologic evidence of Jansen's metaphyseal chondrodysplasia but less severe hypercalcemia, no receptor mutations were detected. In COS-7 cels expressing PTH-PTHrP receptors with the T410P or H223R mutation, basal cyclic AMP accumulation was four to six times higher than in cells expressing wild-type receptors.RESULTSThe previously reported mutation, which changes a histidine at position 223 to arginine (H223R), was found in genomic DNA from three of the six patients but not in DNA from their healthy relatives or 45 unrelated normal subjects. A novel missense mutation that changes a threonine in the receptor's sixth membrane-spanning region to proline (T410P) was identified in another patient but not in 62 normal subjects. In two patients with radiologic evidence of Jansen's metaphyseal chondrodysplasia but less severe hypercalcemia, no receptor mutations were detected. In COS-7 cels expressing PTH-PTHrP receptors with the T410P or H223R mutation, basal cyclic AMP accumulation was four to six times higher than in cells expressing wild-type receptors.The expression of constitutively active PTH-PTHrp receptors in kidney, bone, and growth-plate chondrocytes provides a plausible genetic explanation for mineral-ion abnormalities and metaphyseal changes in patients with Jansen's disease.CONCLUSIONSThe expression of constitutively active PTH-PTHrp receptors in kidney, bone, and growth-plate chondrocytes provides a plausible genetic explanation for mineral-ion abnormalities and metaphyseal changes in patients with Jansen's disease. Background An activating mutation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) was recently found in a patient with Jansen's metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two hormones. To investigate this and other activating mutations and to refine the classification of this unusual disorder, we analyzed genomic DNA from six additional patients with Jansen's disease. Methods Exons encoding the PTH-PTHrP receptor were amplified by the polymerase chain reaction (PCR), and the products were analyzed by gel electrophoresis or direct nucleotide-sequence analysis. Nucleotide changes were confirmed by restriction-enzyme digestion of genomic DNA or the PCR products. Results The previously reported mutation, which changes a histidine at position 223 to arginine (H223R), was found in genomic DNA from three of the six patients but not in DNA from their healthy relatives or 45 unrelated normal subjects. A novel missense mutation that changes a threonine in the receptor's sixth membrane-spanning region to proline (T410P) was identified in another patient but not in 62 normal subjects. In two patients with radiologic evidence of Jansen's metaphyseal chondrodysplasia but less severe hypercalcemia, no receptor mutations were detected. In COS-7 cells expressing PTH-PTHrP receptors with the T410P or H223R mutation, basal cyclic AMP accumulation was four to six times higher than in cells expressing wild-type receptors. Conclusions The expression of constitutively active PTH-PTHrP receptors in kidney, bone, and growth-plate chondrocytes provides a plausible genetic explanation for mineral-ion abnormalities and metaphyseal changes in patients with Jansen's disease. An activating mutation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) was recently found in a patient with Jansens's metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two hormones. To investigate this and other activating mutations and to refine the classification of this unusual disorder, we analyzed genomic DNA from six additional patients with Jansen's disease. Exons encoding the PTH-PTHrP receptor were amplified by the polymerase chain reaction (PCR), and the products were analyzed by gel electrophoresis or direct nucleotide-sequence analysis. Nucleotide changes were confirmed by restriction-enzyme digestion of genomic DNA or the PCR products. The previously reported mutation, which changes a histidine at position 223 to arginine (H223R), was found in genomic DNA from three of the six patients but not in DNA from their healthy relatives or 45 unrelated normal subjects. A novel missense mutation that changes a threonine in the receptor's sixth membrane-spanning region to proline (T410P) was identified in another patient but not in 62 normal subjects. In two patients with radiologic evidence of Jansen's metaphyseal chondrodysplasia but less severe hypercalcemia, no receptor mutations were detected. In COS-7 cels expressing PTH-PTHrP receptors with the T410P or H223R mutation, basal cyclic AMP accumulation was four to six times higher than in cells expressing wild-type receptors. The expression of constitutively active PTH-PTHrp receptors in kidney, bone, and growth-plate chondrocytes provides a plausible genetic explanation for mineral-ion abnormalities and metaphyseal changes in patients with Jansen's disease. |
Author | Jensen, G.S Kikuchi, S Jüppner, H Cole, W.G Schipani, E Parfitt, A.M Kooh, S.W Langman, C.B |
Author_xml | – sequence: 1 givenname: E surname: Schipani fullname: Schipani, E – sequence: 2 givenname: C.B surname: Langman fullname: Langman, C.B – sequence: 3 givenname: A.M surname: Parfitt fullname: Parfitt, A.M – sequence: 4 givenname: G.S surname: Jensen fullname: Jensen, G.S – sequence: 5 givenname: S surname: Kikuchi fullname: Kikuchi, S – sequence: 6 givenname: S.W surname: Kooh fullname: Kooh, S.W – sequence: 7 givenname: W.G surname: Cole fullname: Cole, W.G – sequence: 8 givenname: H surname: Jüppner fullname: Jüppner, H |
BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3209152$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/8703170$$D View this record in MEDLINE/PubMed |
BookMark | eNqFkt9qFDEUxoNU6rb6BCIMInoho_k3k8llWaptabUUvR5OkzNslplkTbLC3vkCXvmGPolpd-lFKTY3OeT7fR8nyTkgez54JOQlox8YbdqPX47PLpjWLdW0EaJhlMonZMZKXUtJ2z0yo5R3tVRaPCMHKS1pWUzqfbLfKSqYojPyex58yi6vs_uJ46Y6MqWAjLa6QoOrHGKqhhCrS4iQF5sYnK1OQpxKJxV4-9D5319_rnC8zbgsCc5i5Xx1Bj6hf5eqC8ywWmwSwljNF8HbGOwmrUZIDp6TpwOMCV_s9kPy_dPxt_lJff718-n86Lw2LRe5Hlq4biw3Le24sYoNtrVcwqCNkiilAKqxAWOEZmooYnkFS422iCDYAIM4JG-3uasYfqwx5X5yyeA4gsewTr3quOpUJx8FWdMxLQUr4Ot74DKsoy-X6DkXWilOb6BXO2h9PaHtV9FNEDf97jeK_manQzIwDhG8cekOE5xq1vCCiS1mYkgp4nBHMNrfTEb_wGQUl77nMi5DdsHnCG58xPt-652m1HtcTv-l_wFVg8yw |
CODEN | NEJMAG |
CitedBy_id | crossref_primary_10_1210_jc_2006_0300 crossref_primary_10_1146_annurev_physiol_60_1_431 crossref_primary_10_1080_10408360091174213 crossref_primary_10_1210_jcem_87_4_8419 crossref_primary_10_1126_science_abf7258 crossref_primary_10_1053_jarr_2001_26352 crossref_primary_10_1016_j_bbrc_2004_11_069 crossref_primary_10_1016_j_bbrc_2004_11_068 crossref_primary_10_1016_j_str_2023_04_002 crossref_primary_10_1359_jbmr_1999_14_10_1680 crossref_primary_10_1016_S1169_8330_00_80075_7 crossref_primary_10_1016_S1349_0079_04_80020_3 crossref_primary_10_1056_NEJM200012213432508 crossref_primary_10_1152_physrev_00031_2015 crossref_primary_10_1210_jc_2014_1029 crossref_primary_10_1056_NEJM199712043372307 crossref_primary_10_1210_endo_142_3_8001 crossref_primary_10_1056_NEJM199609053351010 crossref_primary_10_1371_journal_pcbi_1004805 crossref_primary_10_2106_00004623_200304000_00021 crossref_primary_10_1159_000020534 crossref_primary_10_1002_jbmr_3913 crossref_primary_10_1074_jbc_M106215200 crossref_primary_10_1016_S0889_8529_05_70154_7 crossref_primary_10_1016_S0168_9525_01_02458_1 crossref_primary_10_1007_s12018_014_9161_x crossref_primary_10_1038_s41467_022_34009_x crossref_primary_10_1186_1471_2148_8_129 crossref_primary_10_1073_pnas_94_25_13689 crossref_primary_10_1074_jbc_275_2_999 crossref_primary_10_1074_jbc_274_33_23035 crossref_primary_10_1007_s00467_021_05082_z crossref_primary_10_1152_ajprenal_1999_277_5_F665 crossref_primary_10_1208_ps030322 crossref_primary_10_1210_er_2003_0024 crossref_primary_10_1002_jbm4_10802 crossref_primary_10_1038_ng844 crossref_primary_10_1074_jbc_M108913200 crossref_primary_10_1177_0022034513513588 crossref_primary_10_1002_ajmg_a_30855 crossref_primary_10_1016_j_beem_2018_03_005 crossref_primary_10_1210_edrv_19_1_0323 crossref_primary_10_1016_S0753_3322_00_80008_6 crossref_primary_10_1210_me_2001_0103 crossref_primary_10_1002_jbmr_4248 crossref_primary_10_1210_endo_142_4_8103 crossref_primary_10_1073_pnas_97_18_10277 crossref_primary_10_1016_j_ydbio_2007_01_031 crossref_primary_10_1161_CIRCULATIONAHA_116_026995 crossref_primary_10_1210_jc_2018_00332 crossref_primary_10_1074_jbc_M606762200 crossref_primary_10_1210_clinem_dgaf097 crossref_primary_10_1016_S8756_3282_00_00419_1 crossref_primary_10_1016_j_regpep_2006_04_010 crossref_primary_10_1172_JCI11777 crossref_primary_10_1038_sj_bjp_0703311 crossref_primary_10_1152_ajprenal_00232_2013 crossref_primary_10_1210_mend_12_1_0045 crossref_primary_10_1074_jbc_M800005200 crossref_primary_10_1002_jbmr_2327 crossref_primary_10_1073_pnas_98_1_160 crossref_primary_10_1007_s11914_020_00639_7 crossref_primary_10_1210_endrev_bnac033 crossref_primary_10_1210_endrev_bnac032 crossref_primary_10_1056_NEJM200001203420306 crossref_primary_10_1016_j_jdsr_2022_08_002 crossref_primary_10_1111_cge_13413 crossref_primary_10_1210_jcem_82_11_4382 crossref_primary_10_1007_BF03343773 crossref_primary_10_1073_pnas_1005011108 crossref_primary_10_1002_jcp_22986 crossref_primary_10_1177_0009922809353596 crossref_primary_10_1126_scisignal_abf1653 crossref_primary_10_1016_j_siny_2003_10_002 crossref_primary_10_1590_S0004_27302001000300004 crossref_primary_10_1002_ajmg_10233 crossref_primary_10_1096_fj_11_183277 crossref_primary_10_1097_00041552_200007000_00006 crossref_primary_10_1210_endo_139_12_6454 crossref_primary_10_1007_s40746_021_00219_6 crossref_primary_10_1016_j_mce_2023_112107 crossref_primary_10_1016_S1155_1941_06_29077_2 crossref_primary_10_1091_mbc_E15_12_0851 crossref_primary_10_1007_s00247_012_2536_6 crossref_primary_10_1038_nrendo_2015_139 crossref_primary_10_1210_mend_11_7_9934 crossref_primary_10_1016_j_archoralbio_2016_03_012 crossref_primary_10_1098_rsif_2012_0846 crossref_primary_10_1210_jcem_84_10_6033 crossref_primary_10_1210_me_2014_1129 crossref_primary_10_1080_03008200490278016 crossref_primary_10_1021_jacs_3c09694 crossref_primary_10_1021_bi9829276 crossref_primary_10_1210_endo_142_9_8364 crossref_primary_10_1021_jp509814n crossref_primary_10_3109_10408363_2014_970266 crossref_primary_10_1016_S0929_693X_99_80196_1 crossref_primary_10_1138_20060210 crossref_primary_10_1083_jcb_200408079 crossref_primary_10_1172_JCI130126 crossref_primary_10_1006_bbrc_1997_6231 crossref_primary_10_1359_jbmr_1999_14_2_173 crossref_primary_10_1002_ajmg_a_36115 crossref_primary_10_1016_j_bone_2006_03_002 crossref_primary_10_2174_1573396319666221221121350 crossref_primary_10_1006_bbrc_1998_9883 crossref_primary_10_1016_S2173_5743_11_70054_5 crossref_primary_10_1002_mgg3_2301 crossref_primary_10_1002_bdrc_10014 crossref_primary_10_3109_10606820213685 crossref_primary_10_1002_path_1468 crossref_primary_10_1359_jbmr_2002_17_7_1151 crossref_primary_10_1021_acschembio_6b00404 crossref_primary_10_1016_j_tem_2019_07_011 crossref_primary_10_1016_S0026_895X_24_13256_7 crossref_primary_10_1016_j_bbadis_2020_165973 crossref_primary_10_1371_journal_pone_0034729 crossref_primary_10_1359_jbmr_1999_14_12_1993 crossref_primary_10_1016_S0301_4622_00_00222_2 crossref_primary_10_1002_jcp_1118 crossref_primary_10_1073_pnas_1221585110 crossref_primary_10_1111_j_0009_9163_2004_00198_x crossref_primary_10_1007_s00018_021_03884_w crossref_primary_10_1016_S1169_8330_00_80078_2 crossref_primary_10_1016_j_beem_2018_02_006 crossref_primary_10_1016_S0022_3565_24_37627_X crossref_primary_10_2478_v10042_009_0007_1 crossref_primary_10_1124_pr_114_009464 crossref_primary_10_1210_me_2013_1116 crossref_primary_10_1093_hmg_ddw153 crossref_primary_10_1016_S8756_3282_99_00110_6 crossref_primary_10_1359_jbmr_2002_17_5_808 crossref_primary_10_1016_S1521_690X_03_00056_3 crossref_primary_10_2220_biomedres_29_61 crossref_primary_10_1210_mend_15_1_0587 crossref_primary_10_1196_annals_1346_021 crossref_primary_10_1016_j_reuma_2010_11_008 crossref_primary_10_1053_berh_2000_0063 crossref_primary_10_1053_sper_2001_23194 crossref_primary_10_1002_1529_0131_199812_41_12_2152__AID_ART10_3_0_CO_2_X crossref_primary_10_1186_ar4025 crossref_primary_10_1038_ncomms13384 crossref_primary_10_1002_jbmr_258 crossref_primary_10_1038_ncpendmet0324 crossref_primary_10_1007_s00223_007_9072_7 crossref_primary_10_1097_BRS_0b013e3180601245 crossref_primary_10_1002_bdrc_10028 |
Cites_doi | 10.1159/000168620 10.1002/ajmg.1320180216 10.1097/00041552-199407000-00002 10.1001/jama.1972.03210080143038 10.1210/en.137.1.122 10.1126/science.273.5275.663 10.1007/BF02388087 10.1210/en.133.2.617 10.1016/S0021-9258(17)32546-2 10.1002/jbmr.5650100122 10.1016/S0022-3476(05)81605-1 10.1210/en.136.2.453 10.1016/S0021-9258(19)85445-5 10.1210/en.134.1.441 10.1126/science.7701349 10.1007/BF02013518 10.1093/hmg/3.7.1210-a 10.1542/peds.58.4.556 10.1101/gad.8.3.277 10.1302/0301-620X.58B1.1270485 10.1242/dev.121.11.3539 10.1302/0301-620X.51B2.290 10.2106/00004623-195941050-00015 10.1210/jc.80.5.1611 10.1007/BF01006898 10.1302/0301-620X.36B4.622 10.1007/BF01957529 |
ContentType | Journal Article |
Copyright | Copyright © 1996 Massachusetts Medical Society. All rights reserved. 1996 INIST-CNRS |
Copyright_xml | – notice: Copyright © 1996 Massachusetts Medical Society. All rights reserved. – notice: 1996 INIST-CNRS |
DBID | AAYXX CITATION IQODW CGR CUY CVF ECM EIF NPM 7RV 7X7 7XB 8AO 8C1 8FE 8FH 8FI ABUWG AFKRA AN0 AZQEC BBNVY BEC BENPR BHPHI CCPQU DWQXO FYUFA GHDGH GNUQQ GUQSH HCIFZ K0Y LK8 M0R M0T M1P M2M M2O M2P M7P MBDVC NAPCQ PHGZM PHGZT PJZUB PKEHL PPXIY PQEST PQGLB PQQKQ PQUKI PRINS PSYQQ Q9U 8FD FR3 P64 RC3 7X8 |
DOI | 10.1056/NEJM199609053351004 |
DatabaseName | CrossRef Pascal-Francis Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed Nursing & Allied Health Database Health & Medical Collection ProQuest Central (purchase pre-March 2016) ProQuest Pharma Collection Public Health Database ProQuest SciTech Collection ProQuest Natural Science Collection Hospital Premium Collection ProQuest Central (Alumni) ProQuest Central UK/Ireland British Nursing Index ProQuest Central Essentials Biological Science Database eLibrary Curriculum ProQuest Central (NC Live) Natural Science Collection ProQuest One ProQuest Central Health Research Premium Collection Health Research Premium Collection (Alumni) ProQuest Central Student Research Library Prep SciTech Premium Collection New England Journal of Medicine Biological Sciences Consumer Health Database Healthcare Administration Database Medical Database Psychology Database ProQuest Research Library Science Database ProQuest Biological Science Research Library (Corporate) Nursing & Allied Health Premium ProQuest Central Premium ProQuest One Academic ProQuest Health & Medical Research Collection ProQuest One Academic Middle East (New) ProQuest One Health & Nursing ProQuest One Academic Eastern Edition (DO NOT USE) ProQuest One Applied & Life Sciences ProQuest One Academic ProQuest One Academic UKI Edition ProQuest Central China ProQuest One Psychology ProQuest Central Basic Technology Research Database Engineering Research Database Biotechnology and BioEngineering Abstracts Genetics Abstracts MEDLINE - Academic |
DatabaseTitle | CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) ProQuest One Psychology Research Library Prep ProQuest Central Student ProQuest One Academic Middle East (New) ProQuest Central Essentials elibrary ProQuest Central (Alumni Edition) SciTech Premium Collection ProQuest One Community College ProQuest One Health & Nursing New England Journal of Medicine ProQuest Natural Science Collection ProQuest Pharma Collection ProQuest Central China ProQuest Central ProQuest One Applied & Life Sciences ProQuest Health & Medical Research Collection Health Research Premium Collection Natural Science Collection ProQuest Central Korea Health & Medical Research Collection Biological Science Collection ProQuest Research Library ProQuest Central (New) ProQuest Public Health ProQuest Biological Science Collection ProQuest Central Basic ProQuest Science Journals ProQuest Family Health ProQuest One Academic Eastern Edition British Nursing Index with Full Text ProQuest Health Management ProQuest Nursing & Allied Health Source ProQuest Hospital Collection Health Research Premium Collection (Alumni) Biological Science Database ProQuest SciTech Collection Nursing & Allied Health Premium ProQuest Health & Medical Complete ProQuest Medical Library ProQuest Psychology Journals ProQuest One Academic UKI Edition ProQuest One Academic ProQuest One Academic (New) Genetics Abstracts Engineering Research Database Technology Research Database Biotechnology and BioEngineering Abstracts MEDLINE - Academic |
DatabaseTitleList | Genetics Abstracts MEDLINE - Academic ProQuest One Psychology MEDLINE |
Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database – sequence: 3 dbid: BENPR name: ProQuest Central url: http://www.proquest.com/pqcentral?accountid=15518 sourceTypes: Aggregation Database |
DeliveryMethod | fulltext_linktorsrc |
Discipline | Medicine |
EISSN | 1533-4406 |
EndPage | 714 |
ExternalDocumentID | 10157015 8703170 3209152 10_1056_NEJM199609053351004 NJ199609053351004 |
Genre | Original Article Research Support, U.S. Gov't, P.H.S Journal Article General Information |
GrantInformation_xml | – fundername: PHS HHS grantid: R01 46718 |
GroupedDBID | --- -DZ -ET -~X .-4 .55 .CO .GJ 08R 0R~ 123 186 1CY 1KJ 1VV 29N 2KS 2WC 34G 36B 39C 3O- 3V. 4.4 53G 5D0 5RE 6TJ 7FN 7RV 7X7 85S 8AO 8C1 8FE 8FH 8FI 8W4 8WZ A6W AACLI AAEJM AAIKC AAMNW AAQQT AARDX AAUTI AAWTL AAYOK ABACO ABEFU ABEHJ ABFLS ABIVO ABOCM ABPPZ ABPTK ABQIJ ABUWG ABWJO ACGFS ACGOD ACKOT ACNCT ACPFK ACPRK ACPVT ACRZS ACTDY ADBBV ADRHT AENEX AETEA AFDAS AFFDN AFFNX AFKRA AFMIJ AFOSN AFUVZ AGFXO AGNAY AGQGO AHMBA AJJEV AJUXI AKALU ALMA_UNASSIGNED_HOLDINGS AN0 AQUVI AZQEC BBNVY BCU BENPR BHPHI BKEYQ BKNYI BNQBC BPHCQ BVXVI C45 CJ0 CS3 DCD DU5 DWQXO EBS EJD EX3 F5P FD8 FM. FYUFA G8K GNUQQ GUQSH HCIFZ HF~ HZ~ J5H K-O K78 KOO L7B LK8 M0R M0T M1P M2M M2O M2P M7P MVM N4W NAPCQ NEJ NHB O9- OHT OK1 OMK OVD P-O P2P PQEST PQQKQ PQUKI PROAC PSQYO QZG RHI RWL RXW SJFOW SJN TAE TAF TEORI TN5 TUQ TWZ UCV UKHRP UKR VQA W2G WH7 WHG WOQ WOW X7M XJT XOL XYN XZL YCJ YFH YHZ YQJ YR2 YYP YZZ ZA5 ZCA ZGI ZKB ZVN ZXP ~KM AAYXX ABBLC ABCQX ABDPE ABDQB ABJNI ADUKH ADXHL AERZD AGHSJ ALIPV BYPQX CCPQU CITATION HMCUK PHGZM PHGZT PSYQQ YR5 ZR0 0WA 41~ 9M8 AAQOH AFHKK D0S FA8 H13 IQODW LPU MQT PCD PJZUB PPXIY PQGLB QJJ S10 SKT UBX UMD UQL YQI YRY YYQ ZHY CGR CUY CVF ECM EIF NPM R.3 UIG VXZ YIF YIN Z5M 7XB BEC K0Y MBDVC PKEHL PRINS Q9U 8FD FR3 P64 PUEGO RC3 7X8 |
ID | FETCH-LOGICAL-c623t-f6ab5d2c6082cd71fd6d24af9c74e443a09e5acc3917ffd6028d0c9deea31faf3 |
IEDL.DBID | 8C1 |
ISSN | 0028-4793 |
IngestDate | Thu Sep 04 20:22:59 EDT 2025 Fri Sep 05 03:14:51 EDT 2025 Sat Aug 23 13:24:48 EDT 2025 Wed Feb 19 01:29:01 EST 2025 Mon Jul 21 09:13:12 EDT 2025 Tue Jul 01 03:09:44 EDT 2025 Thu Apr 24 23:01:21 EDT 2025 Thu Mar 16 05:16:51 EDT 2023 |
IsDoiOpenAccess | false |
IsOpenAccess | true |
IsPeerReviewed | true |
IsScholarly | true |
Issue | 10 |
Keywords | Human Metaphyseal chondrodysplasia Jansen Gene Parathyroid hormone Pathogenesis Peptide hormone Diseases of the osteoarticular system Parathyroid hormone related peptide Mutation Osteochondrodysplasia Genetic disease Hormonal receptor |
Language | English |
License | CC BY 4.0 |
LinkModel | DirectLink |
MergedId | FETCHMERGED-LOGICAL-c623t-f6ab5d2c6082cd71fd6d24af9c74e443a09e5acc3917ffd6028d0c9deea31faf3 |
Notes | SourceType-Scholarly Journals-1 ObjectType-General Information-1 content type line 14 ObjectType-Article-2 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2 |
OpenAccessLink | https://www.nejm.org/doi/pdf/10.1056/NEJM199609053351004?articleTools=true |
PMID | 8703170 |
PQID | 223977201 |
PQPubID | 40644 |
PageCount | 7 |
ParticipantIDs | proquest_miscellaneous_78278784 proquest_miscellaneous_15819431 proquest_journals_223977201 pubmed_primary_8703170 pascalfrancis_primary_3209152 crossref_primary_10_1056_NEJM199609053351004 crossref_citationtrail_10_1056_NEJM199609053351004 mms_nejm_10_1056_NEJM199609053351004 |
ProviderPackageCode | CITATION AAYXX |
PublicationCentury | 1900 |
PublicationDate | 1996-09-05 |
PublicationDateYYYYMMDD | 1996-09-05 |
PublicationDate_xml | – month: 09 year: 1996 text: 1996-09-05 day: 05 |
PublicationDecade | 1990 |
PublicationPlace | Boston, MA |
PublicationPlace_xml | – name: Boston, MA – name: United States – name: Boston |
PublicationTitle | The New England journal of medicine |
PublicationTitleAlternate | N Engl J Med |
PublicationYear | 1996 |
Publisher | Massachusetts Medical Society |
Publisher_xml | – name: Massachusetts Medical Society |
References | Gram PB (r003) 1959; 41 Wysolmerski JJ (r032) 1995; 121 r020 r021 r022 r023 r017 r013 r014 r016 Iwamoto M (r025) 1994; 269 r031 r010 r011 r012 Cameron JAP (r002) 1954; 36 de Haas WHD (r004) 1969; 51 Ren Q (r024) 1993; 268 r030 r028 r007 r029 r008 Jansen M (r001) 1934; 61 r009 Gordon SL (r018) 1976; 58 r026 r005 Lee K (r015) 1996; 270 r027 Kikuchi S (r019) 1976; 58 8703176 - N Engl J Med. 1996 Sep 5;335(10):736-8 |
References_xml | – ident: r013 doi: 10.1159/000168620 – ident: r020 doi: 10.1002/ajmg.1320180216 – ident: r011 doi: 10.1097/00041552-199407000-00002 – ident: r007 – ident: r031 doi: 10.1001/jama.1972.03210080143038 – ident: r027 doi: 10.1210/en.137.1.122 – ident: r029 doi: 10.1126/science.273.5275.663 – ident: r008 doi: 10.1007/BF02388087 – ident: r012 doi: 10.1210/en.133.2.617 – volume: 269 start-page: 17245 year: 1994 ident: r025 publication-title: J Biol Chem doi: 10.1016/S0021-9258(17)32546-2 – ident: r030 doi: 10.1002/jbmr.5650100122 – ident: r017 doi: 10.1016/S0022-3476(05)81605-1 – ident: r026 doi: 10.1210/en.136.2.453 – volume: 268 start-page: 16483 year: 1993 ident: r024 publication-title: J Biol Chem doi: 10.1016/S0021-9258(19)85445-5 – ident: r014 doi: 10.1210/en.134.1.441 – ident: r016 doi: 10.1126/science.7701349 – ident: r009 doi: 10.1007/BF02013518 – ident: r022 doi: 10.1093/hmg/3.7.1210-a – volume: 58 start-page: 556 year: 1976 ident: r018 publication-title: Pediatrics doi: 10.1542/peds.58.4.556 – ident: r028 doi: 10.1101/gad.8.3.277 – volume: 58 start-page: 102 year: 1976 ident: r019 publication-title: J Bone Joint Surg Br doi: 10.1302/0301-620X.58B1.1270485 – ident: r023 – volume: 121 start-page: 3539 year: 1995 ident: r032 publication-title: Development doi: 10.1242/dev.121.11.3539 – volume: 51 start-page: 290 year: 1969 ident: r004 publication-title: J Bone Joint Surg Br doi: 10.1302/0301-620X.51B2.290 – volume: 41 start-page: 951 year: 1959 ident: r003 publication-title: J Bone Joint Surg Am doi: 10.2106/00004623-195941050-00015 – volume: 270 start-page: F186 year: 1996 ident: r015 publication-title: Am J Physiol – ident: r021 doi: 10.1210/jc.80.5.1611 – ident: r005 doi: 10.1007/BF01006898 – volume: 36 start-page: 622 year: 1954 ident: r002 publication-title: J Bone Joint Surg Br doi: 10.1302/0301-620X.36B4.622 – ident: r010 doi: 10.1007/BF01957529 – volume: 61 start-page: 253 year: 1934 ident: r001 publication-title: Orthop Chir – reference: 8703176 - N Engl J Med. 1996 Sep 5;335(10):736-8 |
SSID | ssj0000149 |
Score | 2.012015 |
Snippet | Jansen's metaphyseal chondrodysplasia
1
is a rare form of short-limbed dwarfism caused by severe abnormalities of the growth plates. The condition is typically... An activating mutation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) was recently found in a patient with... Background An activating mutation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) was recently found in a patient... |
SourceID | proquest pubmed pascalfrancis crossref mms |
SourceType | Aggregation Database Index Database Enrichment Source Publisher |
StartPage | 708 |
SubjectTerms | Age Base Sequence Biological and medical sciences Child Diseases of the osteoarticular system DNA Mutational Analysis Dwarfism - genetics Female Heterozygote Humans Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Middle Aged Molecular Sequence Data Mutation Osteochondrodysplasias - genetics Patients Pedigree Point Mutation Receptor, Parathyroid Hormone, Type 1 Receptors, Parathyroid Hormone - chemistry Receptors, Parathyroid Hormone - genetics Vitamin D |
Title | Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia |
URI | http://dx.doi.org/10.1056/NEJM199609053351004 https://www.ncbi.nlm.nih.gov/pubmed/8703170 https://www.proquest.com/docview/223977201 https://www.proquest.com/docview/15819431 https://www.proquest.com/docview/78278784 |
Volume | 335 |
hasFullText | 1 |
inHoldings | 1 |
isFullTextHit | |
isPrint | |
link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV3dS-QwEB9uFQ5fDs87cU9d8yDcywX7lbZ5EhVFBOUQhX0raT7Qw-1Wuwr7N_hPO9Nmywm6r02atJlk5pdkZn4A-4mVuE0wAdGkxhztdclzEUkucqMyJ1Exaop3vrxKz2-Ti7EYe9-cxrtVLnRiq6jNVNMZ-QGaMYQqaK4O60dOpFF0ueoZNAawSiGgtPfKT8L_skd59OsPkBZJh0R6QETz5H8bSIpFFZQ27Z1hGkwmDblJqgZHynUUF59j0NYWna3DNw8i2VEn9e_wxVYb8PXSX5P_gFei4Wx9AFCXPcwZBS-8IKg0DPWbrYlghyFYZW3e77v50_TesDsEr9PKMlWZj57zNugFW6jJDcZYdl-xC0UH078bNrEzSntNvmQM1SnlQDDzpm4jNH_C7dnpzck596wLXCMUmnGXqlKYSKcIDrTJQmdSEyXKSZ0lNkliFUgrlNYxbvQcFuLomkBLY62KQ6dcvAkrFX7XFjAb5oGKYx05VSahVnlalhEiFmlzR8BtCNFiyAvtU5ITM8ZD0V6Ni7T4QE5D-NO_VHcZOZZX30dZFpX9N1lebfedsPumY5xYiHGGsL0QfuFXeVP0c3IIe30pLk-6c1GVnT43RSgQcuEvf14DIRoqzRy_YLObU33XOXELZMGvpV1vw1rnSC55IHZgZfb0bHcRJ83KEQyycTZq18QIVo9Pr_5evwG8lhEW |
linkProvider | ProQuest |
linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwtV1Lb9QwEB61RQIuiFfFUkp9KOKC1cSJk_iAEAKq7WN7aqW9BccPtaibDc0WtL-B38J_ZCYvUandW6-x4zzGnvnseXwAu7FTuE2wAdGkRhztdcEzKRSXmdWpV6gYDeU7T06S8Vl8OJXTNfjb58JQWGWvExtFbeeGzsj30IwhVEFz9an6yYk0ipyrPYNGOyuO3PI37tjqjwdfUbzvhNj_dvplzDtSAW7Q0i-4T3QhrTAJ2j5j09DbxIpYe2XS2MVxpAPlpDYmwn2Mx0a0vzYwyjqno9BrH-G46_AgJg8jLp90mv5XrapD292BVV_kSCZ7RGxP8b6BotxXSWXabhjC9dmsprBMXaNkfEupcTfmbWzf_lN40oFW9rmdZc9gzZXP4eGkc8u_gD9E-9nEHKDuvFwySpb4hSDWMtSnriJCH4bgmDV1xs-XV_MLy84RLM9Lx3Rpb7vOmyQbHKGisBvr2EXJDjUdhL-v2cwtqMw2xa4xVN9Uc8Eu66rJCH0JZ_cikE3YKPG9XgFzYRboKDLC6yIOjc6SohCIkJTLPAHFEYj-l-emK4FOTByXeeOKl0l-i5xG8GG4qWorgKzuvouyzEv3Y7a62_YNYQ9DRwIRnBQj2OqFn3dapc6HNTCCnaEV1QH5eHTp5td1HkqEePjJd_dASIhKOsM32Gzn1PDojLgM0uD1ykfvwKPx6eQ4Pz44OdqCx20Qu-KBfAMbi6trt40YbVG8bVYGg-_3vRT_AVFUTgk |
linkToPdf | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwtV1Lb9QwEB61Raq4IF4VSyn1oYgL0SaOncQHhBBl1QetOFBpb8HxQy3qZkOzBe1v4Bfx75jJS1Rq99Zr4jjZHfubz_bMfAB7wilcJtiQZFLjAP11EWSSq0BmVqdeITAaync-OU0OzsTRVE7X4G-fC0NhlT0mNkBt54b2yMfoxpCqoLsa-y4q4uv-5EP1MyABKTpo7dU02hFy7Ja_cfVWvz_cR1O_4Xzy-dung6ATGAgMev1F4BNdSMtNgn7Q2DTyNrFcaK9MKpwQsQ6Vk9qYGNc0Hm-iL7ahUdY5HUde-xj7XYcHaSwEqUak0_S_ylUd8-42r_qCRzIZk8g9xf6GivJgJZVsu-EU12ezmkI0dY1W8q28xt38t_GDk8fwqCOw7GM74p7AmiufwuZJd0T_DP6QBGgTf4A4erlklDjxCwmtZYitriJxH4ZEmTU1x8-XV_MLy86ROM9Lx3Rpb7seNAk32ENFITjWsYuSHWnaFH9bs5lbUMltimNjCOVUf8Eu66rJDn0OZ_dikC3YKPG7XgBzURbqODbc60JERmdJUXBkS8plnkjjCHj_l-emK4dOqhyXeXMsL5P8FjuN4N3wUNVWA1ndfA9tmZfux2x1s50bxh66jjmyOclHsN0bP-8Qps6H-TCC3eEuQgOd9-jSza_rPJJI9_An390C6SECdoZfsNWOqeHVGekapOHLla_ehU2chPmXw9PjbXjYxrOrIJSvYGNxde12kK4titfNxGDw_b5n4j_PVVI8 |
openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Constitutively+activated+receptors+for+parathyroid+hormone+and+parathyroid+hormone-related+peptide+in+Jansen%27s+metaphyseal+chondrodysplasia&rft.jtitle=The+New+England+journal+of+medicine&rft.au=Schipani%2C+E&rft.au=Langman%2C+C+B&rft.au=Parfitt%2C+A+M&rft.au=Jensen%2C+G+S&rft.date=1996-09-05&rft.issn=0028-4793&rft.volume=335&rft.issue=10&rft.spage=708&rft_id=info:doi/10.1056%2FNEJM199609053351004&rft_id=info%3Apmid%2F8703170&rft.externalDocID=8703170 |
thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0028-4793&client=summon |
thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0028-4793&client=summon |
thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0028-4793&client=summon |