1 | OTC
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| An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency.
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| Quintero-Rivera F, Deignan JL, Peredo J, Grody WW, Crandall B, Sims M, Cederbaum SD.
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| Mol Genet Metab 101(4):413-6. doi: 10.1016/j.ymgme.2010.08.008. Epub 2010 Aug 14.
2010
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2 | OTC
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| Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.
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| Luksan O, Jirsa M, Eberova J, Minks J, Treslova H, Bouckova M, Storkanova G, Vlaskova H, Hrebicek M, Dvorakova L.
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| Hum Mutat 31(4):E1294-303. doi: 10.1002/humu.21215.
2010
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3 | OTC
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| Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.
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| Numata S, Koda Y, Ihara K, Sawada T, Okano Y, Matsuura T, Endo F, Yoo HW, Arranz JA, Rubio V, Wermuth B, Ah Mew N, Tuchman M, Pinner JR, Kirk EP, Yoshino M.
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| J Hum Genet 55(1):18-22. doi: 10.1038/jhg.2009.113. Epub 2009 Nov 6.
2010
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4 | OTC
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| Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene.
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| Quental R, Azevedo L, Rubio V, Diogo L, Amorim A.
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| Clin Genet 75(5):457-64.
2009
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5 | OTC
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| High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
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| Shchelochkov OA, Li FY, Geraghty MT, Gallagher RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong LJ.
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| Mol Genet Metab 96(3):97-105. doi: 10.1016/j.ymgme.2008.11.167. Epub 2009 Jan 12.
2009
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6 | OTC
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| Ornithine carbamyltransferase is a sensitive marker for alcohol-induced liver injury.
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| Murayama H, Ikemoto M, Hamaoki M.
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| Clin Chim Acta 401(1-2):100-4. doi: 10.1016/j.cca.2008.11.027. Epub 2008 Dec 10. 2009
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7 | OTC
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| Is the ornithine transcarbamylase gene a genetic determinant of Alzheimer's disease?
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| Hansmannel F, Lendon C, Pasquier F, Dumont J, Hannequin D, Chapuis J, Laumet G, Ayral AM, Galimberti D, Scarpini E, Campion D, Amouyel P, Lambert JC.
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| Neurosci Lett 449(1):76-80. doi: 10.1016/j.neulet.2008.10.081. Epub 2008 Oct 28.
2009
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8 | OTC
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| Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
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| Ogino W, Takeshima Y, Nishiyama A, Okizuka Y, Yagi M, Tsuneishi S, Saiki K, Kugo M, Matsuo M.
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| Kobe J Med Sci 53(5):229-40.
2007
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9 | OTC
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| Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome.
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| Arranz JA, Madrigal I, Riudor E, Armengol L, Milą M.
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| J Inherit Metab Dis 30(5):813. Epub 2007 Jun 14.
2007
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10 | OTC
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| Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene.
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| Azevedo L, Climent C, Vilarinho L, Calafell F, Amorim A.
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| Hum Mutat 24(3):273.
2004
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11 | OTC
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| Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.
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| Bisanzi S, Morrone A, Donati MA, Pasquini E, Spada M, Strisciuglio P, Parenti G, Parini R, Papadia F, Zammarchi E.
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| Mol Genet Metab 76(2):137-44.
2002
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12 | OTC
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| Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.
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| McCullough BA, Yudkoff M, Batshaw ML, Wilson JM, Raper SE, Tuchman M.
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| Am J Med Genet 93(4):313-9. 2000
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13 | OTC
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| The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients.
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| Nishiyori A, et al.
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| Hum Genet 99 : 171-176. 1997
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14 | OTC
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| 'Late onset' ornithine transcarbamylase deficiency: function of three purified recombinant mutant enzymes.
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| Morizono H, Listrom CD, Rajagopal BS, Aoyagi M, McCann MT, Allewell NM, Tuchman M.
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| Hum Mol Genet 6(6):963-8. 1997
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15 | OTC
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| The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.
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| Matsuda I, Tanase S.
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| Am J Med Genet 71(4):378-83. 1997
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16 | OTC
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| Identification of four novel splice site mutations in the ornithine transcarbamylase gene.
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| Oppliger Leibundgut E, et al.
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| Hum Genet 97 : 209-213. 1996
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17 | OTC
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| Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families.
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| Tuchman M, et al.
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| Hum Genet 97 : 274-276. 1996
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18 | OTC
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| A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.
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| Demmer LA, et al.
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| Hum Mutat 7 : 279. 1996
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19 | OTC
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| Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
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| Gilbert-Dussardier B, et al.
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| Hum Mutat 8 : 74-76. 1996
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20 | OTC
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| Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.
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| Matsuda I, et al.
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| J Med Genet 33 : 645-648. 1996
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21 | OTC
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| Ornithine transcarbamylase deficiency : characterization of gene mutations and polymorphisms.
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| Oppliger Leibundgut E, et al.
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| Hum Mutat 8 : 333-339. 1996
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22 | OTC
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| A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.
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| Sgues B, et al.
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| Hum Mutat 8 : 373-374. 1996
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23 | OTC
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| Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation.
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| Van Diggelen OP, et al.
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| Clin Genet 50 : 310-316. 1996
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24 | OTC
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| Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation.
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| Ahrens MJ, et al.
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| Am J Med Genet 66 : 311-315. 1996
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25 | OTC
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| A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency.
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| Garcia-Perez MA, et al.
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| Hum Genet 96 : 549-551. 1995
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26 | OTC
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| Ornithine transcarbamylase deficiency : new sites with increased probality of mutation.
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| Oppliger Leibundgut E, et al.
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| Hum Genet 95 : 191-196. 1995
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27 | OTC
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| Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity.
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| Garcia-Prez MA, et al.
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| Hum Genet 95 : 183-186. 1995
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28 | OTC
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| The ornithine transcarbamylase gene : new private mutations in four patients and study of a polymorphism.
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| Tuchman M, et al.
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| Hum Mutat 3 : 318-320. 1994
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29 | OTC
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| A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.
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| Gilbert-Dussardier B, et al.
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| Hum Mol Genet 3 : 831-832. 1994
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30 | OTC
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| Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.
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| Matsuura T, et al.
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| Hum Mutat 3 : 402-406. 1994
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31 | OTC
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| Seven new mutations in the human ornithine transcarbamylase gene.
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| Tuchman M, et al.
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| Hum Mutat 4 : 57-60. 1994
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32 | OTC
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| Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene.
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| Strautnieks S, et al.
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| Hum Mol Genet 2 : 1963-1964. 1993
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33 | OTC
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| Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency : application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns.
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| Matsuura T, et al.
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| Hum Genet 92 : 49-56. 1993
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34 | OTC
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| Mutations and polymorphisms in the human ornithine transcarbamylase gene.
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| Tuchman M.
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| Hum Mutat 2 : 174-178. 1993
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35 | OTC
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| Site specific screening for point mutations in ornithine transcarbamylase deficiency.
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| Feldmann D, et al.
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| J Med Genet 29 : 471-475. 1992
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36 | OTC
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| Ornithine transcarbamylase (OTC) deficiency in a female patient with a de novo deletion of the paternal X chromosome.
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| Slomski R, et al.
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| Hum Genet 89 : 632-634. 1992
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37 | OTC
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| Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.
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| Carstens RP, et al.
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| Am J Hum Genet 48 : 1105-1114. 1991
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38 | MCLDP, CYBB, RP3, OTC
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| Physical mapping of the McLeod locus and isolation of a 1.7Mb contig containing genes for McLeod, chronic granulomatous disease (CGD), retinitis pigmentosa form 3, (RP3) and ornithine transcarbamylase (OTC).
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| Ho M, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2067. 1991
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39 | OTC
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| Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.
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| Hentzen D, et al.
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| Hum Genet 88 : 153-156. 1991
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40 | OTC
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| Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.
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| Strautnieks S, et al.
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| J Med Genet 28 : 871-874. 1991
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41 | OTC
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| Ornithine transcarbamylase polymorphism detected by PCR introduction of DraI site.
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| Petty EM, et al.
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| Nucleic Acids Res 19 : 690. 1991
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42 | OTC
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| A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.
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| Hata A, et al.
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| Hum Genet 87 : 28-32. 1991
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43 | OTC
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| Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency.
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| Finkelstein JE, et al.
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| Genomics 7 : 167-172. 1990
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44 | OTC
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| Molecular detection and correction of ornithine transcarbamylase deficiency.
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| Grompe M, et al.
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| Trends Genet 6 : 335-339. 1990
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45 | OTC
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| Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.
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| Hata A, et al.
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| Am J Hum Genet 45 : 123-127. 1989
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46 | OTC
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| Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.
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| Grompe M, et al.
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| Proc Natl Acad Sci U S A 86 : 5888-5892. 1989
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47 | OTC
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| Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency.
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| Maddalena A, et al.
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| N Engl J Med 319 : 999-1003. 1988
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48 | RP3, DXS7, DXS28, DXS84, DXS164, DXS206, OTC
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| Analysis of linkage relationships of X-linked retinitis pigmentosa with the following Xp loci : L1.28, OTC, 754, XJ-1.1, pERT87, and C7.
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| Denton MJ, et al.
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| Hum Genet 78 : 60-64. 1988
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49 | RP2, DXS7, DXS84, OTC, DXS206, DXS164, DXS28
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| Analysis of linkage relationships of X-linked retinitis pigmentosa with the following Xp loci : DXS7, OTC, DXS84, XJ-1, DXS164, and DXS28.
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| Chen JD, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 592. 1987
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50 | OTC, CPS1, ARG1, ASL, CTLN1
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| Mammalian urea cycle enzymes.
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| Jackson MJ, et al.
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| Annu Rev Genet 20 : 431-464. 1986
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51 | OTC
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| New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.
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| Nussbaum RL, et al.
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| Am J Hum Genet 38 : 149-158. 1986
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52 | OTC
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| Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms.
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| Fox J, et al.
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| N Engl J Med 315 :1205-1208. 1986
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53 | OTC
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| Gene detection and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.
|
| Rozen R, et al.
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| Nature 313 : 815-817. 1985
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54 | OTC
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| Gene for OTC: characterization and linkage to Duchenne muscular dystrophy.
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| Davies KE, et al.
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| Nucleic Acids Res 13 : 155-165. 1985
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55 | OTC
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| Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.
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| Horwich AL, et al.
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| Science 224 : 1068-1074. 1984
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56 | OTC
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| Random X inactivation resulting in mosaic nullisomy of region Xp21.1-Xp21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease.
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| Francke U.
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| Cytogenet Cell Genet 38 : 298-307. 1984
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57 | OTC
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| Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus.
|
| Lindgren V, et al.
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| Science 226 : 698-700. 1984
|