References analysis of the Wikipedia article "Johanson–Blizzard syndrome" in the English version

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Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hülskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-Da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A (Dec 2005). "Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)" (PDF). Nature Genetics. 37 (12): 1345–1350. doi:10.1038/ng1681. PMID 16311597. S2CID 23050042.

Zenker, Martin; Mayerle, Julia; Lerch, Markus M.; Tagariello, Andreas; Zerres, Klaus; Durie, Peter R.; Beier, Matthias; Hülskamp, Georg; Guzman, Celina; Rehder, Helga; Beemer, Frits A. (December 2005). "Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)" (PDF). Nature Genetics. 37 (12): 1345–1350. doi:10.1038/ng1681. ISSN 1061-4036. PMID 16311597. S2CID 23050042.

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Alkhouri N, Kaplan B, Kay M, Shealy A, Crowe C, Bauhuber S, Zenker M (Nov 2008). "Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing". World Journal of Gastroenterology. 14 (44): 6863–6866. doi:10.3748/wjg.14.6863. PMC 2773884. PMID 19058315.

Kulkarni ML, Shetty SK, Kallambella KS, Kulkarni PM (Dec 2004). "Johanson--blizzard syndrome". Indian Journal of Pediatrics. 71 (12): 1127–1129. doi:10.1007/BF02829829. PMID 15630323. S2CID 38967896.

Zenker M, Mayerle J, Reis A, Lerch MM (Jun 2006). "Genetic basis and pancreatic biology of Johanson-Blizzard syndrome". Endocrinology and Metabolism Clinics of North America. 35 (2): 243–253, vii–viii. doi:10.1016/j.ecl.2006.02.013. PMID 16632090.

Sandhu BK, Brueton MJ (November 1989). "Concurrent pancreatic and growth hormone insufficiency in Johanson-Blizzard syndrome". J. Pediatr. Gastroenterol. Nutr. 9 (4): 535–8. doi:10.1097/00005176-198911000-00026. PMID 2621533.

Steinbach WJ, Hintz RL (Nov 2000). "Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome". Journal of Pediatric Endocrinology & Metabolism. 13 (9): 1633–1636. doi:10.1515/jpem.2000.13.9.1633. ISSN 0334-018X. PMID 11154160. S2CID 20598132.

Rosanowski F, Hoppe U, Hies T, Eysholdt U (Oct 1998). "Johanson-Blizzard syndrome. A complex dysplasia syndrome with aplasia of the nasal alae and inner ear deafness". HNO. 46 (10): 876–878. doi:10.1007/s001060050328. PMID 9846268. S2CID 43526278.

Takahashi T, Fujishima M, Tsuchida S, Enoki M, Takada G (Aug 2004). "Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia". Journal of Pediatric Endocrinology & Metabolism. 17 (8): 1141–1144. doi:10.1515/jpem.2004.17.8.1141. ISSN 0334-018X. PMID 15379429. S2CID 5658865.

Daentl DL, Frías JL, Gilbert EF, Opitz JM (1979). "The Johanson-Blizzard syndrome: case report and autopsy findings". American Journal of Medical Genetics. 3 (2): 129–135. doi:10.1002/ajmg.1320030203. PMID 474625.

Jones NL, Hofley PM, Durie PR (Sep 1994). "Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development". The Journal of Pediatrics. 125 (3): 406–408. doi:10.1016/S0022-3476(05)83286-X. PMID 8071749.

Nagashima K, Yagi H, Kuroume T (Feb 1993). "A case of Johanson-Blizzard syndrome complicated by diabetes mellitus". Clinical Genetics. 43 (2): 98–100. doi:10.1111/j.1399-0004.1993.tb04458.x. ISSN 0009-9163. PMID 8448911. S2CID 33408299.

Gould NS, Paton JB, Bennett AR (Jun 1989). "Johanson-Blizzard syndrome: clinical and pathological findings in 2 sibs". American Journal of Medical Genetics. 33 (2): 194–199. doi:10.1002/ajmg.1320330212. PMID 2669481.

Hoffman WH, Lee JR, Kovacs K, Chen H, Yaghmai F (Jan 2007). "Johanson-Blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature". Pediatric and Developmental Pathology. 10 (1): 55–60. doi:10.2350/06-05-0085.1. PMID 17378628. S2CID 42630522.

Fichter CR, Johnson GA, Braddock SR, Tobias JD (January 2003). "Perioperative care of the child with the Johanson-Blizzard syndrome". Pediatric Anesthesia. 13 (1): 72–5. doi:10.1046/j.1460-9592.2003.00957.x. PMID 12535044. S2CID 23268410.

Moeschler JB, Polak MJ, Jenkins JJ, Amato RS (January 1987). "The Johanson-Blizzard syndrome: a second report of full autopsy findings". Am. J. Med. Genet. 26 (1): 133–8. doi:10.1002/ajmg.1320260120. PMID 3812553.

Braun J, Lerner A, Gershoni-Baruch R (1991). "The temporal bone in the Johanson-Blizzard syndrome. A CT study". Pediatric Radiology. 21 (8): 580–3. doi:10.1007/BF02012603. PMID 1815181. S2CID 27095180.

Bamiou DE, Phelps P, Sirimanna T (March 2000). "Temporal bone computed tomography findings in bilateral sensorineural hearing loss". Arch. Dis. Child. 82 (3): 257–60. doi:10.1136/adc.82.3.257. PMC 1718255. PMID 10685935.

Mardin MK, Ghandour M, Sakati NA, Nyhan WL (Nov 1978). "Johanson-Blizzard syndrome in a large inbred kindred with three involved members". Clin Genet. 14 (5): 247–250. doi:10.1111/j.1399-0004.1978.tb02141.x. PMID 709902. S2CID 35031493.

Kobayashi S, Ohmori K, Sekiguchi J (Sep 1995). "Johanson-Blizzard syndrome facial anomaly and its correction using a microsurgical bone graft and tripartite osteotomy". J Craniofac Surg. 6 (5): 382–385. doi:10.1097/00001665-199509000-00011. PMID 9020718.

Al-Dosari MS, Al-Muhsen S, Al-Jazaeri A, Mayerle J, Zenker M, Alkuraya FS (July 2008). "Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement". Am J Med Genet A. 146A (14): 1875–9. doi:10.1002/ajmg.a.32401. PMID 18553553. S2CID 30927282.

Elting M, Kariminejad A, de Sonnaville ML, Ottenkamp J, Bauhuber S, Bozorgmehr B, Zenker M, Cobben JM (December 2008). "Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy". Am J Med Genet A. 146A (23): 3058–61. doi:10.1002/ajmg.a.32566. PMID 19006206. S2CID 20782358.

Quaio, C. R.; Koda, Y. K.; Bertola, D. R.; Sukalo, M.; Zenker, M.; Kim, C. A. (2014-06-09). "Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation". Genetics and Molecular Research. 13 (2): 4159–4164. doi:10.4238/2014.June.9.2. ISSN 1676-5680. PMID 25036160.

Kwon, Y. T.; Reiss, Y.; Fried, V. A.; Hershko, A.; Yoon, J. K.; Gonda, D. K.; Sangan, P.; Copeland, N. G.; Jenkins, N. A.; Varshavsky, A. (1998-07-07). "The mouse and human genes encoding the recognition component of the N-end rule pathway". Proceedings of the National Academy of Sciences of the United States of America. 95 (14): 7898–7903. Bibcode:1998PNAS...95.7898K. doi:10.1073/pnas.95.14.7898. ISSN 0027-8424. PMC 20901. PMID 9653112.

Almashraki, Nabeel; Abdulnabee, Mukarram Zainuddin; Sukalo, Maja; Alrajoudi, Abdullah; Sharafadeen, Iman; Zenker, Martin (2011-10-07). "Johanson-Blizzard syndrome". World Journal of Gastroenterology. 17 (37): 4247–4250. doi:10.3748/wjg.v17.i37.4247. ISSN 2219-2840. PMC 3208372. PMID 22072859.

Elting, Mariet; Kariminejad, Ariana; de Sonnaville, Marie-Louise; Ottenkamp, Jaap; Bauhuber, Susanne; Bozorgmehr, Bita; Zenker, Martin; Cobben, Jan M. (2008-12-01). "Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy". American Journal of Medical Genetics. Part A. 146A (23): 3058–3061. doi:10.1002/ajmg.a.32566. ISSN 1552-4833. PMID 19006206. S2CID 20782358.

Al-Dosari, Mohammed S.; Al-Muhsen, Saleh; Al-Jazaeri, Ayman; Mayerle, Julia; Zenker, Martin; Alkuraya, Fowzan S. (2008-07-15). "Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement". American Journal of Medical Genetics. Part A. 146A (14): 1875–1879. doi:10.1002/ajmg.a.32401. ISSN 1552-4833. PMID 18553553. S2CID 30927282.

Sukalo, Maja; Fiedler, Ariane; Guzmán, Celina; Spranger, Stephanie; Addor, Marie-Claude; Mcheik, Jiad N.; Oltra Benavent, Manuel; Cobben, Jan M.; Gillis, Lynette A.; Shealy, Amy G.; Deshpande, Charu (May 2014). "Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum". Human Mutation. 35 (5): 521–531. doi:10.1002/humu.22538. PMID 24599544. S2CID 25288051.

Ciechanover A (September 1994). "The ubiquitin-mediated proteolytic pathway: mechanisms of action and cellular physiology". Biol Chem Hoppe-Seyler. 375 (9): 565–81. doi:10.1515/bchm3.1994.375.8.565. PMID 7840898.

Ciechanover A, Iwai K (April 2004). "The ubiquitin system: from basic mechanisms to the patient bed". IUBMB Life. 56 (4): 193–201. doi:10.1080/1521654042000223616. PMID 15230346. S2CID 25409332.

Varshavsky A (January 1997). "The N-end rule pathway of protein degradation". Genes Cells. 2 (1): 13–28. doi:10.1046/j.1365-2443.1997.1020301.x. PMID 9112437. S2CID 27736735.

Baker RT, Varshavsky A (February 1991). "Inhibition of the N-end rule pathway in living cells". Proc Natl Acad Sci USA. 88 (4): 1090–4. Bibcode:1991PNAS...88.1090B. doi:10.1073/pnas.88.4.1090. PMC 50962. PMID 1899923.

Gonda DK, Bachmair A, Wünning I, Tobias JW, Lane WS, Varshavsky A (October 1989). "Universality and structure of the N-end rule". J Biol Chem. 264 (28): 16700–12. doi:10.1016/S0021-9258(19)84762-2. PMID 2506181.

Prater JF, D'Addio K (March 2002). "Johanson-Blizzard syndrome--a case study, behavioral manifestations, and successful treatment strategies". Biol Psychiatry. 51 (6): 515–7. doi:10.1016/S0006-3223(01)01337-3. PMID 11922888. S2CID 10377190.

Kwon, Y. T.; Xia, Z.; Davydov, I. V.; Lecker, S. H.; Varshavsky, A. (December 2001). "Construction and analysis of mouse strains lacking the ubiquitin ligase UBR1 (E3alpha) of the N-end rule pathway". Molecular and Cellular Biology. 21 (23): 8007–8021. doi:10.1128/MCB.21.23.8007-8021.2001. ISSN 0270-7306. PMC 99968. PMID 11689692.

Kwon, Y. T.; Reiss, Y.; Fried, V. A.; Hershko, A.; Yoon, J. K.; Gonda, D. K.; Sangan, P.; Copeland, N. G.; Jenkins, N. A.; Varshavsky, A. (1998-07-07). "The mouse and human genes encoding the recognition component of the N-end rule pathway". Proceedings of the National Academy of Sciences. 95 (14): 7898–7903. Bibcode:1998PNAS...95.7898K. doi:10.1073/pnas.95.14.7898. ISSN 0027-8424. PMC 20901. PMID 9653112.

Johanson A, Blizzard R (December 1971). "A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption". J Pediatr. 79 (6): 982–7. doi:10.1016/S0022-3476(71)80194-4. PMID 5171616.

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Motohashi N, Pruzansky S, Day D (1981). "Roentgencephalometric analysis of craniofacial growth in the Johanson-Blizzard syndrome". J Craniofac Genet Dev Biol. 1 (1): 57–72. PMID 7341643.

Dumić M, Ille J, Bobonj G, Kordić R, Batinica S (May 1998). "Johanson-Blizzardov sindrom" [The Johanson-Blizzard syndrome]. Lijec Vjesn (in Croatian). 120 (5): 114–6. PMID 9748788.

Wang J, Maldonado MA (August 2006). "The ubiquitin-proteasome system and its role in inflammatory and autoimmune diseases". Cell Mol Immunol. 3 (4): 255–61. PMID 16978533.

Ciechanover A, Iwai K (April 2004). "The ubiquitin system: from basic mechanisms to the patient bed". IUBMB Life. 56 (4): 193–201. doi:10.1080/1521654042000223616. PMID 15230346. S2CID 25409332.

Varshavsky A (January 1997). "The N-end rule pathway of protein degradation". Genes Cells. 2 (1): 13–28. doi:10.1046/j.1365-2443.1997.1020301.x. PMID 9112437. S2CID 27736735.

Kwon, Y. T.; Reiss, Y.; Fried, V. A.; Hershko, A.; Yoon, J. K.; Gonda, D. K.; Sangan, P.; Copeland, N. G.; Jenkins, N. A.; Varshavsky, A. (1998-07-07). "The mouse and human genes encoding the recognition component of the N-end rule pathway". Proceedings of the National Academy of Sciences. 95 (14): 7898–7903. Bibcode:1998PNAS...95.7898K. doi:10.1073/pnas.95.14.7898. ISSN 0027-8424. PMC 20901. PMID 9653112.

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Ciechanover A, Iwai K (April 2004). "The ubiquitin system: from basic mechanisms to the patient bed". IUBMB Life. 56 (4): 193–201. doi:10.1080/1521654042000223616. PMID 15230346. S2CID 25409332.

Varshavsky A (January 1997). "The N-end rule pathway of protein degradation". Genes Cells. 2 (1): 13–28. doi:10.1046/j.1365-2443.1997.1020301.x. PMID 9112437. S2CID 27736735.

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Kwon, Y. T.; Reiss, Y.; Fried, V. A.; Hershko, A.; Yoon, J. K.; Gonda, D. K.; Sangan, P.; Copeland, N. G.; Jenkins, N. A.; Varshavsky, A. (1998-07-07). "The mouse and human genes encoding the recognition component of the N-end rule pathway". Proceedings of the National Academy of Sciences. 95 (14): 7898–7903. Bibcode:1998PNAS...95.7898K. doi:10.1073/pnas.95.14.7898. ISSN 0027-8424. PMC 20901. PMID 9653112.

Johanson–Blizzard syndrome (English Wikipedia)

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