{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T20:32:10Z","timestamp":1776889930125,"version":"3.51.2"},"reference-count":46,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2014,4,11]],"date-time":"2014-04-11T00:00:00Z","timestamp":1397174400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1186\/1471-2350-15-42","type":"journal-article","created":{"date-parts":[[2014,4,11]],"date-time":"2014-04-11T15:04:04Z","timestamp":1397228644000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking"],"prefix":"10.1186","volume":"15","author":[{"given":"Adila","family":"Al-Kindi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Praseetha","family":"Kizhakkedath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huifang","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"John","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abeer Al","family":"Sayegh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anuradha","family":"Ganesh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maha","family":"Al-Awadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lamya","family":"Al-Anbouri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lihadh","family":"Al-Gazali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Birgit","family":"Leitinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bassam R","family":"Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,4,11]]},"reference":[{"key":"1193_CR1","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1002\/ajmg.1320450308","volume":"45","author":"Z Borochowitz","year":"1993","unstructured":"Borochowitz Z, Langer LO, Gruber HE, Lachman R, Katznelson MB, Rimoin DL: Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology. Am J Med Genet. 1993, 45: 320-326. 10.1002\/ajmg.1320450308.","journal-title":"Am J Med Genet"},{"key":"1193_CR2","doi-asserted-by":"publisher","first-page":"488","DOI":"10.1002\/ajmg.1320450419","volume":"45","author":"LO Langer Jr","year":"1993","unstructured":"Langer LO, Wolfson BJ, Scott CI, Reid CS, Schidlow DV, Millar EA, Borns PF, Lubicky JP, Carpenter BL: Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features. Am J Med Genet. 1993, 45: 488-500. 10.1002\/ajmg.1320450419.","journal-title":"Am J Med Genet"},{"key":"1193_CR3","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1097\/MCD.0b013e3283189762","volume":"18","author":"SF Smithson","year":"2009","unstructured":"Smithson SF, Grier D, Hall CM: Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. Clin Dysmorphol. 2009, 18: 31-35. 10.1097\/MCD.0b013e3283189762.","journal-title":"Clin Dysmorphol"},{"key":"1193_CR4","first-page":"197","volume":"5","author":"LI Al-Gazali","year":"1996","unstructured":"Al-Gazali LI, Bakalinova D, Sztriha L: Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type. Clin Dysmorphol. 1996, 5: 197-206.","journal-title":"Clin Dysmorphol"},{"key":"1193_CR5","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1097\/MCD.0b013e3283186907","volume":"18","author":"C Dias","year":"2009","unstructured":"Dias C, Cairns R, Patel MS: Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. Clin Dysmorphol. 2009, 18: 25-29. 10.1097\/MCD.0b013e3283186907.","journal-title":"Clin Dysmorphol"},{"key":"1193_CR6","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1016\/j.ajhg.2008.12.004","volume":"84","author":"R Bargal","year":"2009","unstructured":"Bargal R, Cormier-Daire V, Ben-Neriah Z, Le Merrer M, Sosna J, Melki J, Zangen DH, Smithson SF, Borochowitz Z, Belostotsky R, Raas-Rothschild A: Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. Am J Hum Genet. 2009, 84: 80-84. 10.1016\/j.ajhg.2008.12.004.","journal-title":"Am J Hum Genet"},{"key":"1193_CR7","doi-asserted-by":"publisher","first-page":"2239","DOI":"10.1093\/hmg\/ddq103","volume":"19","author":"BR Ali","year":"2010","unstructured":"Ali BR, Xu H, Akawi NA, John A, Karuvantevida NS, Langer R, Al-Gazali L, Leitinger B: Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients. Hum Mol Genet. 2010, 19: 2239-2250. 10.1093\/hmg\/ddq103.","journal-title":"Hum Mol Genet"},{"key":"1193_CR8","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/S1097-2765(00)80003-9","volume":"1","author":"W Vogel","year":"1997","unstructured":"Vogel W, Gish GD, Alves F, Pawson T: The discoidin domain receptor tyrosine kinases are activated by collagen. Mol Cell. 1997, 1: 13-23. 10.1016\/S1097-2765(00)80003-9.","journal-title":"Mol Cell"},{"key":"1193_CR9","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/S1097-2765(00)80004-0","volume":"1","author":"A Shrivastava","year":"1997","unstructured":"Shrivastava A, Radziejewski C, Campbell E, Kovac L, McGlynn M, Ryan TE, Davis S, Goldfarb MP, Glass DJ, Lemke G, Yancopoulos GD: An orphan receptor tyrosine kinase family whose members serve as nonintegrin collagen receptors. Mol Cell. 1997, 1: 25-34. 10.1016\/S1097-2765(00)80004-0.","journal-title":"Mol Cell"},{"key":"1193_CR10","doi-asserted-by":"publisher","first-page":"1108","DOI":"10.1016\/j.cellsig.2006.02.012","volume":"18","author":"WF Vogel","year":"2006","unstructured":"Vogel WF, Abdulhussein R, Ford CE: Sensing extracellular matrix: an update on discoidin domain receptor function. Cell Signal. 2006, 18: 1108-1116. 10.1016\/j.cellsig.2006.02.012.","journal-title":"Cell Signal"},{"key":"1193_CR11","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1146\/annurev-cellbio-092910-154013","volume":"27","author":"B Leitinger","year":"2011","unstructured":"Leitinger B: Transmembrane collagen receptors. Annu Rev Cell Dev Biol. 2011, 27: 265-290. 10.1146\/annurev-cellbio-092910-154013.","journal-title":"Annu Rev Cell Dev Biol"},{"key":"1193_CR12","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1007\/s10555-012-9346-z","volume":"31","author":"RR Valiathan","year":"2012","unstructured":"Valiathan RR, Marco M, Leitinger B, Kleer CG, Fridman R: Discoidin domain receptor tyrosine kinases: new players in cancer progression. Cancer Metastasis Rev. 2012, 31: 295-321. 10.1007\/s10555-012-9346-z.","journal-title":"Cancer Metastasis Rev"},{"key":"1193_CR13","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/j.matbio.2006.05.006","volume":"25","author":"B Leitinger","year":"2006","unstructured":"Leitinger B, Kwan AP: The discoidin domain receptor DDR2 is a receptor for type X collagen. Matrix Biol. 2006, 25: 355-364. 10.1016\/j.matbio.2006.05.006.","journal-title":"Matrix Biol"},{"key":"1193_CR14","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1074\/jbc.M411036200","volume":"280","author":"L Xu","year":"2005","unstructured":"Xu L, Peng H, Wu D, Hu K, Goldring MB, Olsen BR, Li Y: Activation of the discoidin domain receptor 2 induces expression of matrix metalloproteinase 13 associated with osteoarthritis in mice. J Biol Chem. 2005, 280: 548-555.","journal-title":"J Biol Chem"},{"key":"1193_CR15","doi-asserted-by":"publisher","first-page":"3606","DOI":"10.1074\/jbc.M107571200","volume":"277","author":"E Olaso","year":"2002","unstructured":"Olaso E, Labrador JP, Wang L, Ikeda K, Eng FJ, Klein R, Lovett DH, Lin HC, Friedman SL: Discoidin domain receptor 2 regulates fibroblast proliferation and migration through the extracellular matrix in association with transcriptional activation of matrix metalloproteinase-2. J Biol Chem. 2002, 277: 3606-3613. 10.1074\/jbc.M107571200.","journal-title":"J Biol Chem"},{"key":"1193_CR16","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1016\/j.jmb.2009.10.073","volume":"395","author":"LA Flynn","year":"2010","unstructured":"Flynn LA, Blissett AR, Calomeni EP, Agarwal G: Inhibition of collagen fibrillogenesis by cells expressing soluble extracellular domains of DDR1 and DDR2. J Mol Biol. 2010, 395: 533-543. 10.1016\/j.jmb.2009.10.073.","journal-title":"J Mol Biol"},{"key":"1193_CR17","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1093\/embo-reports\/kve094","volume":"2","author":"JP Labrador","year":"2001","unstructured":"Labrador JP, Azcoitia V, Tuckermann J, Lin C, Olaso E, Manes S, Bruckner K, Goergen JL, Lemke G, Yancopoulos G, Angel P, Martinez C, Klein R: The collagen receptor DDR2 regulates proliferation and its elimination leads to dwarfism. EMBO Rep. 2001, 2: 446-452. 10.1093\/embo-reports\/kve094.","journal-title":"EMBO Rep"},{"key":"1193_CR18","doi-asserted-by":"publisher","first-page":"1866","DOI":"10.1210\/me.2007-0310","volume":"22","author":"K Kano","year":"2008","unstructured":"Kano K, Marin de Evsikova C, Young J, Wnek C, Maddatu TP, Nishina PM, Naggert JK: A novel dwarfism with gonadal dysfunction due to loss-of-function allele of the collagen receptor gene, Ddr2, in the mouse. Mol Endocrinol. 2008, 22: 1866-1880. 10.1210\/me.2007-0310.","journal-title":"Mol Endocrinol"},{"key":"1193_CR19","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1002\/mrd.21093","volume":"77","author":"K Kano","year":"2010","unstructured":"Kano K, Kitamura A, Matsuwaki T, Morimatsu M, Naito K: Discoidin domain receptor 2 (DDR2) is required for maintenance of spermatogenesis in male mice. Mol Reprod Dev. 2010, 77: 29-37.","journal-title":"Mol Reprod Dev"},{"key":"1193_CR20","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1152\/physiolgenomics.00073.2009","volume":"39","author":"H Matsumura","year":"2009","unstructured":"Matsumura H, Kano K, Marin De Evsikova C, Young JA, Nishina PM, Naggert JK, Naito K: Transcriptome analysis reveals an unexpected role of a collagen tyrosine kinase receptor gene, Ddr2, as a regulator of ovarian function. Physiol Genomics. 2009, 39: 120-129. 10.1152\/physiolgenomics.00073.2009.","journal-title":"Physiol Genomics"},{"key":"1193_CR21","first-page":"2187","volume":"2013","author":"F Carafoli","year":"1834","unstructured":"Carafoli F, Hohenester E: Collagen recognition and transmembrane signalling by discoidin domain receptors. Biochim Biophys Acta. 1834, 2013: 2187-2194.","journal-title":"Biochim Biophys Acta"},{"key":"1193_CR22","doi-asserted-by":"publisher","first-page":"16761","DOI":"10.1074\/jbc.M301370200","volume":"278","author":"B Leitinger","year":"2003","unstructured":"Leitinger B: Molecular analysis of collagen binding by the human discoidin domain receptors, DDR1 and DDR2: identification of collagen binding sites in DDR2. J Biol Chem. 2003, 278: 16761-16769. 10.1074\/jbc.M301370200.","journal-title":"J Biol Chem"},{"key":"1193_CR23","doi-asserted-by":"publisher","first-page":"688","DOI":"10.1016\/j.str.2012.02.011","volume":"20","author":"F Carafoli","year":"2012","unstructured":"Carafoli F, Mayer MC, Shiraishi K, Pecheva MA, Chan LY, Nan R, Leitinger B, Hohenester E: Structure of the discoidin domain receptor 1 extracellular region bound to an inhibitory Fab fragment reveals features important for signaling. Structure. 2012, 20: 688-697. 10.1016\/j.str.2012.02.011.","journal-title":"Structure"},{"key":"1193_CR24","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1016\/j.jmb.2008.10.067","volume":"385","author":"C Mihai","year":"2009","unstructured":"Mihai C, Chotani M, Elton TS, Agarwal G: Mapping of DDR1 distribution and oligomerization on the cell surface by FRET microscopy. J Mol Biol. 2009, 385: 432-445. 10.1016\/j.jmb.2008.10.067.","journal-title":"J Mol Biol"},{"key":"1193_CR25","doi-asserted-by":"publisher","first-page":"22744","DOI":"10.1074\/jbc.M603233200","volume":"281","author":"NA Noordeen","year":"2006","unstructured":"Noordeen NA, Carafoli F, Hohenester E, Horton MA, Leitinger B: A transmembrane leucine zipper is required for activation of the dimeric receptor tyrosine kinase DDR1. J Biol Chem. 2006, 281: 22744-22751. 10.1074\/jbc.M603233200.","journal-title":"J Biol Chem"},{"key":"1193_CR26","doi-asserted-by":"publisher","first-page":"1573","DOI":"10.1016\/j.str.2009.10.012","volume":"17","author":"F Carafoli","year":"2009","unstructured":"Carafoli F, Bihan D, Stathopoulos S, Konitsiotis AD, Kvansakul M, Farndale RW, Leitinger B, Hohenester E: Crystallographic insight into collagen recognition by discoidin domain receptor 2. Structure. 2009, 17: 1573-1581. 10.1016\/j.str.2009.10.012.","journal-title":"Structure"},{"key":"1193_CR27","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1002\/jbmr.225","volume":"26","author":"Y Zhang","year":"2011","unstructured":"Zhang Y, Su J, Yu J, Bu X, Ren T, Liu X, Yao L: An essential role of discoidin domain receptor 2 (DDR2) in osteoblast differentiation and chondrocyte maturation via modulation of Runx2 activation. J Bone Miner Res. 2011, 26: 604-617. 10.1002\/jbmr.225.","journal-title":"J Bone Miner Res"},{"key":"1193_CR28","doi-asserted-by":"publisher","first-page":"2489","DOI":"10.1002\/jbmr.159","volume":"25","author":"KL Lin","year":"2010","unstructured":"Lin KL, Chou CH, Hsieh SC, Hwa SY, Lee MT, Wang FF: Transcriptional upregulation of DDR2 by ATF4 facilitates osteoblastic differentiation through p38 MAPK-mediated Runx2 activation. J Bone Miner Res. 2010, 25: 2489-2503. 10.1002\/jbmr.159.","journal-title":"J Bone Miner Res"},{"key":"1193_CR29","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/j.bone.2013.10.001","volume":"58","author":"R Khosravi","year":"2014","unstructured":"Khosravi R, Sodek KL, Faibish M, Trackman PC: Collagen advanced glycation inhibits its discoidin domain receptor 2 (DDR2)-mediated induction of lysyl oxidase in osteoblasts. Bone. 2014, 58: 33-41.","journal-title":"Bone"},{"issue":"6","key":"1193_CR30","doi-asserted-by":"publisher","first-page":"1414","DOI":"10.1242\/dmm.013342","volume":"6","author":"B Gualeni","year":"2013","unstructured":"Gualeni B, Rajpar MH, Kellogg A, Bell PA, Arvan P, Boot-Handford RP, Briggs MD: A novel transgenic mouse model of growth plate dysplasia reveals that decreased chondrocyte proliferation due to chronic ER stress is a key factor in reduced bone growth. Dis Model Mech. 2013, 6 (6): 1414-25. 10.1242\/dmm.013342.","journal-title":"Dis Model Mech"},{"key":"1193_CR31","doi-asserted-by":"publisher","first-page":"2559","DOI":"10.1093\/hmg\/ddi259","volume":"14","author":"Y Chen","year":"2005","unstructured":"Chen Y, Bellamy WP, Seabra MC, Field MC, Ali BR: ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including robinow syndrome. Hum Mol Genet. 2005, 14: 2559-2569. 10.1093\/hmg\/ddi259.","journal-title":"Hum Mol Genet"},{"key":"1193_CR32","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1007\/s00439-007-0409-0","volume":"122","author":"BR Ali","year":"2007","unstructured":"Ali BR, Jeffery S, Patel N, Tinworth LE, Meguid N, Patton MA, Afzal AR: Novel robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum. Hum Genet. 2007, 122: 389-395. 10.1007\/s00439-007-0409-0.","journal-title":"Hum Genet"},{"key":"1193_CR33","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1093\/hmg\/ddn354","volume":"18","author":"AN Hume","year":"2009","unstructured":"Hume AN, Buttgereit J, Al-Awadhi AM, Al-Suwaidi SS, John A, Bader M, Seabra MC, Al-Gazali L, Ali BR: Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type maroteaux. Hum Mol Genet. 2009, 18: 267-277.","journal-title":"Hum Mol Genet"},{"key":"1193_CR34","doi-asserted-by":"publisher","first-page":"868","DOI":"10.1002\/bies.10320","volume":"25","author":"AA McCracken","year":"2003","unstructured":"McCracken AA, Brodsky JL: Evolving questions and paradigm shifts in endoplasmic-reticulum-associated degradation (ERAD). Bioessays. 2003, 25: 868-877. 10.1002\/bies.10320.","journal-title":"Bioessays"},{"key":"1193_CR35","doi-asserted-by":"publisher","first-page":"836","DOI":"10.1034\/j.1600-0854.2000.011104.x","volume":"1","author":"M Aridor","year":"2000","unstructured":"Aridor M, Hannan LA: Traffic jam: a compendium of human diseases that affect intracellular transport processes. Traffic. 2000, 1: 836-851. 10.1034\/j.1600-0854.2000.011104.x.","journal-title":"Traffic"},{"key":"1193_CR36","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1034\/j.1600-0854.2002.31103.x","volume":"3","author":"M Aridor","year":"2002","unstructured":"Aridor M, Hannan LA: Traffic jams II: an update of diseases of intracellular transport. Traffic. 2002, 3: 781-790. 10.1034\/j.1600-0854.2002.31103.x.","journal-title":"Traffic"},{"key":"1193_CR37","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1152\/physrev.00027.2011","volume":"92","author":"CJ Guerriero","year":"2012","unstructured":"Guerriero CJ, Brodsky JL: The delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiology. Physiol Rev. 2012, 92: 537-576. 10.1152\/physrev.00027.2011.","journal-title":"Physiol Rev"},{"key":"1193_CR38","doi-asserted-by":"publisher","first-page":"801","DOI":"10.1038\/ng1403","volume":"36","author":"JA Holbrook","year":"2004","unstructured":"Holbrook JA, Neu-Yilik G, Hentze MW, Kulozik AE: Nonsense-mediated decay approaches the clinic. Nat Genet. 2004, 36: 801-808. 10.1038\/ng1403.","journal-title":"Nat Genet"},{"key":"1193_CR39","doi-asserted-by":"publisher","first-page":"6861","DOI":"10.1074\/jbc.M709290200","volume":"283","author":"AD Konitsiotis","year":"2008","unstructured":"Konitsiotis AD, Raynal N, Bihan D, Hohenester E, Farndale RW, Leitinger B: Characterization of high affinity binding motifs for the discoidin domain receptor DDR2 in collagen. J Biol Chem. 2008, 283: 6861-6868. 10.1074\/jbc.M709290200.","journal-title":"J Biol Chem"},{"key":"1193_CR40","doi-asserted-by":"publisher","first-page":"1907","DOI":"10.1271\/bbb.130351","volume":"77","author":"TN Phan","year":"2013","unstructured":"Phan TN, Wong EL, Sun X, Kim G, Jung SH, Yoon CN, Yang BS: Low stability and a conserved N-glycosylation site are associated with regulation of the discoidin domain receptor family by glucose via post-translational N-glycosylation. Biosci Biotechnol Biochem. 2013, 77: 1907-1916. 10.1271\/bbb.130351.","journal-title":"Biosci Biotechnol Biochem"},{"key":"1193_CR41","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1006\/exer.2000.0932","volume":"72","author":"RR Mohan","year":"2001","unstructured":"Mohan RR, Wilson SE: Discoidin domain receptor (DDR) 1 and 2: collagen-activated tyrosine kinase receptors in the cornea. Exp Eye Res. 2001, 72: 87-92. 10.1006\/exer.2000.0932.","journal-title":"Exp Eye Res"},{"key":"1193_CR42","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1038\/ng.778","volume":"43","author":"B Isidor","year":"2011","unstructured":"Isidor B, Lindenbaum P, Pichon O, Bezieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C: Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet. 2011, 43: 306-308. 10.1038\/ng.778.","journal-title":"Nat Genet"},{"key":"1193_CR43","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1096\/fj.00-0626fje","volume":"15","author":"F Alves","year":"2001","unstructured":"Alves F, Saupe S, Ledwon M, Schaub F, Hiddemann W, Vogel WF: Identification of two novel, kinase-deficient variants of discoidin domain receptor 1: differential expression in human colon cancer cell lines. FASEB J. 2001, 15: 1321-1323.","journal-title":"FASEB J"},{"key":"1193_CR44","doi-asserted-by":"publisher","first-page":"1117","DOI":"10.1016\/j.cell.2010.06.011","volume":"141","author":"MA Lemmon","year":"2010","unstructured":"Lemmon MA, Schlessinger J: Cell signaling by receptor tyrosine kinases. Cell. 2010, 141: 1117-1134. 10.1016\/j.cell.2010.06.011.","journal-title":"Cell"},{"key":"1193_CR45","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/B978-0-12-800180-6.00002-5","volume":"310","author":"B Leitinger","year":"2014","unstructured":"Leitinger B: Discoidin domain receptor functions in physiological and pathological conditions. Int Rev Cell Mol Biol. 2014, 310: 39-87.","journal-title":"Int Rev Cell Mol Biol"},{"key":"1193_CR46","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/j.mehy.2008.07.058","volume":"72","author":"BR Ali","year":"2009","unstructured":"Ali BR: Is cystic fibrosis-related diabetes an apoptotic consequence of ER stress in pancreatic cells?. Med Hypotheses. 2009, 72: 55-57. 10.1016\/j.mehy.2008.07.058.","journal-title":"Med Hypotheses"}],"container-title":["BMC Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-15-42.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2350-15-42\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-15-42","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-15-42.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T03:34:10Z","timestamp":1630553650000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/1471-2350-15-42"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,11]]},"references-count":46,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["1193"],"URL":"https:\/\/doi.org\/10.1186\/1471-2350-15-42","relation":{},"ISSN":["1471-2350"],"issn-type":[{"value":"1471-2350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,11]]},"assertion":[{"value":"16 March 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 April 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 April 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"42"}}