| [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome]. | [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome].
Zhang Q, Hao S, Hui L, Zheng L, Wang X, Feng X, Liu F, Chen X, Zhou B, Wang Y, Zhang C. | 03/11/2024 |
| Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation. | Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation.
Tsykunova G, Kristensen E, Stray-Pedersen A, Bruserud Ø, Sørensen IW, Bruserud Ø, Tvedt THA. | 12/18/2023 |
| The functional impact of 1,570 individual amino acid substitutions in human OTC. | The functional impact of 1,570 individual amino acid substitutions in human OTC.
Lo RS, Cromie GA, Tang M, Teng K, Owens K, Sirr A, Kutz JN, Morizono H, Caldovic L, Ah Mew N, Gropman A, Dudley AM., Free PMC Article | 05/22/2023 |
| [Analysis of OTC gene variants in four children with delayed onset Ornithine transcarbamylase deficiency]. | [Analysis of OTC gene variants in four children with delayed onset Ornithine transcarbamylase deficiency].
Xie L, Wang Y, Ma W, Fan X, Pang L, Wei E, Wang H. | 03/8/2023 |
| A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia. | A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.
Han ST, Anderson KJ, Bjornsson HT, Longo N, Valle D., Free PMC Article | 07/23/2022 |
| Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity. | Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.
Lopes-Marques M, Pacheco AR, Peixoto MJ, Cardoso AR, Serrano C, Amorim A, Prata MJ, Cooper DN, Azevedo L., Free PMC Article | 04/9/2022 |
| OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf(ash) mice, and govern susceptibility to RNA-based therapies. | OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf(ash) mice, and govern susceptibility to RNA-based therapies.
Sacchetto C, Peretto L, Baralle F, Maestri I, Tassi F, Bernardi F, van de Graaf SFJ, Pagani F, Pinotti M, Balestra D., Free PMC Article | 03/26/2022 |
| Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review. | Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
Kido J, Matsumoto S, Sugawara K, Sawada T, Nakamura K. | 01/8/2022 |
| Mitochondrial dysfunction as a mechanistic biomarker in patients with non-alcoholic fatty liver disease (NAFLD). | Mitochondrial dysfunction as a mechanistic biomarker in patients with non-alcoholic fatty liver disease (NAFLD).
Ajaz S, McPhail MJ, Gnudi L, Trovato FM, Mujib S, Napoli S, Carey I, Agarwal K. | 11/6/2021 |
| Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study. | Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study.
Liu F, Bao LS, Liang RJ, Zhao XY, Li Z, Du ZF, Lv SG., Free PMC Article | 09/25/2021 |
| The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients. | The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients.
Zhou Q, Huang H, Ma L, Zhu T., Free PMC Article | 05/8/2021 |
| Clinical and genetic analysis of five Chinese patients with urea cycle disorders. | Clinical and genetic analysis of five Chinese patients with urea cycle disorders.
Zheng Z, Lin Y, Lin W, Zhu L, Jiang M, Wang W, Fu Q., Free PMC Article | 05/1/2021 |
| Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders. | Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.
Pontoizeau C, Roda C, Arnoux JB, Vignolo-Diard P, Brassier A, Habarou F, Barbier V, Grisel C, Abi-Warde MT, Boddaert N, Kuster A, Servais A, Kaminska A, Hennequin C, Dupic L, Lesage F, Touati G, Valayannopoulos V, Chadefaux-Vekemans B, Oualha M, Eisermann M, Ottolenghi C, de Lonlay P. | 04/13/2021 |
| Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC. | Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC.
Yang X, Yan B, Zhang H, Ma Y, Zhou Q, Li Y, Guan J, Wang D, Liu Y, Gai Z. | 01/23/2021 |
| In nine of 38 subjects (24%) with OTC deficiency, this study identified a sequence variant in the OTC regulatory regions. | Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.
Jang YJ, LaBella AL, Feeney TP, Braverman N, Tuchman M, Morizono H, Ah Mew N, Caldovic L., Free PMC Article | 04/27/2019 |
| Whole exome sequencing successfully identified disease-causing mutations including two novel ones: the c.209_210delAA (p.Lys70Argfs*17) and the c.850T>A (p.Tyr284Asn). | The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency.
Chongsrisawat V, Damrongphol P, Ittiwut C, Ittiwut R, Suphapeetiporn K, Shotelersuk V. | 10/27/2018 |
| indicate that the proportion of about 20-30% of hepatocytes expressing the functional OTC protein is not sufficient to maintain metabolic stability. X-inactivation ratios assessed in liver biopsies taken from heterozygous females with X-linked disorders should not be considered representative of the whole liver | Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.
Musalkova D, Sticova E, Reboun M, Sokolova J, Krijt J, Honzikova J, Gurka J, Neroldova M, Honzik T, Zeman J, Jirsa M, Dvorakova L, Hrebicek M. | 06/23/2018 |
| The measurement of serum ornithine carbamoyltransferase concentration may provide a useful marker of disease severity, and thus could be a useful marker for a high risk of hepatocellular carcinoma occurrence. | Involvement of Ornithine Carbamoyltransferase in the Progression of Chronic Hepatitis C and Liver Cirrhosis.
Ohnishi M, Higuchi A, Matsumura H, Arakawa Y, Nakamura H, Nirei K, Yamamoto T, Yamagami H, Ogawa M, Gotoda T, Matsuoka S, Nakajima N, Sugitani M, Moriyama M, Murayama H., Free PMC Article | 05/5/2018 |
| Low expression of OTC is associated with glioblastoma. | Low expressions of ASS1 and OTC in glioblastoma suggest the potential clinical use of recombinant human arginase (rhArg).
Choy CT, Wong CH, Loong HHF. | 02/10/2018 |
| In Korean patients with OTC deficiency, mutations in OTC are genetically heterogeneous. | Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
Choi JH, Lee BH, Kim JH, Kim GH, Kim YM, Cho J, Cheon CK, Ko JM, Lee JH, Yoo HW. | 04/16/2016 |
| Sanger sequencing of the ornithine transcarbamylase (OTC) gene revealed a novel hemizygous deletion at the fourth nucleotide of intron 4 (c.386+4delT) in a child with hyperammonemia and his asymptomatic mother. | A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.
Mohamed S, Hamad MH, Kondkar AA, Abu-Amero KK., Free PMC Article | 04/16/2016 |
| Ornithine transcarbamylase deficiency was genetically heterogeneous in seven Korean patients with confirmed ornithine transcarbamylase deficiency diagnosis by biochemical findings and/or genetic analysis, together with two novel mutations in the OTC gene | OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.
Lee JH, Kim GH, Yoo HW, Cheon CK. | 04/2/2016 |
| The corresponding OTC tissue enzyme activities were between 3-6% of normal control in mouse and human liver. The use of the cryptic splice sites was reproduced in minigenes carrying murine or human mutant sequences | Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.
Rivera-Barahona A, Sánchez-Alcudia R, Viecelli HM, Rüfenacht V, Pérez B, Ugarte M, Häberle J, Thöny B, Desviat LR., Free PMC Article | 03/26/2016 |
| OTC mutation and phenotype in ornithine transcarbamylase deficiency | Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H., Free PMC Article | 02/13/2016 |
| aim of this study was to provide clues for recognition of OTCD in adults and analyze the environmental factors that, interacting with OTC gene mutations, might have triggered acute clinical manifestations | Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
Cavicchi C, Donati M, Parini R, Rigoldi M, Bernardi M, Orfei F, Gentiloni Silveri N, Colasante A, Funghini S, Catarzi S, Pasquini E, la Marca G, Mooney S, Guerrini R, Morrone A., Free PMC Article | 04/4/2015 |