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