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Items: 1 to 20 of 34

1.
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia
Sangwoo T Han, Katherine J Anderson, Hans T Bjornsson, Nicola Longo, David Valle
J Inherit Metab Dis. Author manuscript; available in PMC 2023 Jul 6.
Published in final edited form as: J Inherit Metab Dis. 2022 Jul; 45(4): 710–718. Published online 2022 Jun 28. doi: 10.1002/jimd.12524
PMCID:
PMC10323875
ArticlePDF–1004K
2.
The functional impact of 1,570 individual amino acid substitutions in human OTC
Russell S. Lo, Gareth A. Cromie, Michelle Tang, Kevin Teng, Katherine Owens, Amy Sirr, J. Nathan Kutz, Hiroki Morizono, Ljubica Caldovic, Nicholas Ah Mew, Andrea Gropman, Aimée M. Dudley
Am J Hum Genet. 2023 May 4; 110(5): 863–879. Published online 2023 May 4. doi: 10.1016/j.ajhg.2023.03.019
PMCID:
PMC10183466
ArticlePDF–4.6M
3.
OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies
Claudia Sacchetto, Laura Peretto, Francisco Baralle, Iva Maestri, Francesca Tassi, Francesco Bernardi, Stan F. J. van de Graaf, Franco Pagani, Mirko Pinotti, Dario Balestra
Mol Med. 2021; 27: 157. Published online 2021 Dec 14. doi: 10.1186/s10020-021-00418-9
PMCID:
PMC8670272
ArticlePDF–2.7M
4.
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity
Mónica Lopes‐Marques, Ana Rita Pacheco, Maria João Peixoto, Ana Rita Cardoso, Catarina Serrano, António Amorim, Maria João Prata, David N. Cooper, Luísa Azevedo
Hum Mutat. 2021 Aug; 42(8): 978–989. Published online 2021 Jun 3. doi: 10.1002/humu.24221
PMCID:
PMC8362079
ArticlePDF–2.3M
5.
Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study
Fang Liu, Li‐sha Bao, Ru‐jia Liang, Xiao‐ying Zhao, Zhi Li, Zhi‐fang Du, Shao‐guang Lv
J Cell Mol Med. 2021 Apr; 25(8): 4099–4109. Published online 2021 Feb 21. doi: 10.1111/jcmm.16379
PMCID:
PMC8051738
ArticlePDF–1.5M
6.
Disease-causing Mutations in the Promoter and Enhancer of the Ornithine Transcarbamylase Gene
Yoon J. Jang, Abigail L. LaBella, Timothy P. Feeney, Nancy Braverman, Mendel Tuchman, Hiroki Morizono, Nicholas Ah Mew, Ljubica Caldovic
Hum Mutat. Author manuscript; available in PMC 2020 Jul 29.
Published in final edited form as: Hum Mutat. 2018 Apr; 39(4): 527–536. Published online 2018 Jan 16. doi: 10.1002/humu.23394
PMCID:
PMC7388160
ArticlePDF–1.5M
7.
Involvement of Ornithine Carbamoyltransferase in the Progression of Chronic Hepatitis C and Liver Cirrhosis
Masahiko Ohnishi, Akihisa Higuchi, Hiroshi Matsumura, Yasuo Arakawa, Hitomi Nakamura, Kazushige Nirei, Toshiki Yamamoto, Hiroaki Yamagami, Masahiro Ogawa, Takuji Gotoda, Shunichi Matsuoka, Noriko Nakajima, Masahiko Sugitani, Mitsuhiko Moriyama, Hiroshi Murayama
Int J Med Sci. 2017; 14(7): 629–638. Published online 2017 Jun 14. doi: 10.7150/ijms.17641
PMCID:
PMC5562113
ArticlePDF–866K
8.
A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia
Sarar Mohamed, Muddathir H. Hamad, Altaf A. Kondkar, Khaled K. Abu-Amero
Saudi Med J. 2015 Oct; 36(10): 1229–1232. doi: 10.15537/smj.2015.10.12127
PMCID:
PMC4621731
ArticlePDF–258K
9.
Genotype–Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update
Ljubica Caldovic, Iman Abdikarim, Sahas Narain, Mendel Tuchman, Hiroki Morizono
J Genet Genomics. Author manuscript; available in PMC 2016 May 20.
Published in final edited form as: J Genet Genomics. 2015 May 20; 42(5): 181–194. Published online 2015 May 19. doi: 10.1016/j.jgg.2015.04.003
PMCID:
PMC4565140
ArticlePDF–2.0M
10.
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment
Catia Cavicchi, Maria Alice Donati, Rossella Parini, Miriam Rigoldi, Mauro Bernardi, Francesca Orfei, Nicolò Gentiloni Silveri, Aniello Colasante, Silvia Funghini, Serena Catarzi, Elisabetta Pasquini, Giancarlo la Marca, Sean David Mooney, Renzo Guerrini, Amelia Morrone
Orphanet J Rare Dis. 2014; 9: 105. Published online 2014 Jul 16. doi: 10.1186/s13023-014-0105-9
PMCID:
PMC4304088
ArticlePDF–1.1M
11.
Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.
A Hata, C Setoyama, K Shimada, E Takeda, Y Kuroda, I Akaboshi, I Matsuda
Am J Hum Genet. 1989 Jul; 45(1): 123–127.
PMCID:
PMC1683378
SummaryPage BrowsePDF–997K
12.
Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.
R P Carstens, W A Fenton, L R Rosenberg
Am J Hum Genet. 1991 Jun; 48(6): 1105–1114.
PMCID:
PMC1683104
SummaryPage BrowsePDF–1.9M
13.
Improved molecular diagnostics for ornithine transcarbamylase deficiency.
M Grompe, C T Caskey, R G Fenwick
Am J Hum Genet. 1991 Feb; 48(2): 212–222.
PMCID:
PMC1683033
SummaryPage BrowsePDF–2.0M
14.
Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia.
H Morizono, M Tuchman, B S Rajagopal, M T McCann, C D Listrom, X Yuan, D Venugopal, G Barany, N M Allewell
Biochem J. 1997 Mar 1; 322(Pt 2): 625–631. doi: 10.1042/bj3220625
PMCID:
PMC1218235
SummaryPDF–901K
15.
The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.
M Tuchman, H Morizono, O Reish, X Yuan, N M Allewell
J Med Genet. 1995 Sep; 32(9): 680–688. doi: 10.1136/jmg.32.9.680
PMCID:
PMC1051666
SummaryPage BrowsePDF–2.2M
16.
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.
I Matsuda, T Matsuura, A Nishiyori, S Komaki, R Hoshide, T Matsumoto, M Funakoshi, K Kiwaki, F Endo, A Hata, M Shimadzu, M Yoshino
J Med Genet. 1996 Aug; 33(8): 645–648. doi: 10.1136/jmg.33.8.645
PMCID:
PMC1050697
SummaryPage BrowsePDF–688K
17.
Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.
S Strautnieks, P Rutland, S Malcolm
J Med Genet. 1991 Dec; 28(12): 871–874. doi: 10.1136/jmg.28.12.871
PMCID:
PMC1017166
SummaryPage BrowsePDF–794K
18.
Site specific screening for point mutations in ornithine transcarbamylase deficiency.
D Feldmann, J M Rozet, A Pelet, D Hentzen, P Briand, P Hubert, C Largilliere, D Rabier, J P Farriaux, A Munnich
J Med Genet. 1992 Jul; 29(7): 471–475.
PMCID:
PMC1016021
SummaryPage BrowsePDF–931K
19.
A leader peptide is sufficient to direct mitochondrial import of a chimeric protein.
A L Horwich, F Kalousek, I Mellman, L E Rosenberg
EMBO J. 1985 May; 4(5): 1129–1135. doi: 10.1002/j.1460-2075.1985.tb03750.x
PMCID:
PMC554314
SummaryPage BrowsePDF–1.5M
20.
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
A Maddalena, J E Spence, W E O'Brien, R L Nussbaum
J Clin Invest. 1988 Oct; 82(4): 1353–1358. doi: 10.1172/JCI113738
PMCID:
PMC442691
SummaryPage BrowsePDF–1.4M

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