PMC Articles for MedGen (Select 907954) - PMC

Shangyu Wang, Jinglin Chen, Xiaoqi Zhu, Tingting Huang, Haifeng Xu, Guohuan Ying, Hao Qian, Wenxin Lin, Yiehen Tung, Kaleem Ullah Khan, Hu Guo, Guo Zheng, Haiying Lu, Gang Zhang

BMC Med Genomics. 2023; 16: 145. Published online 2023 Jun 26. doi: 10.1186/s12920-023-01569-w

PMCID:: PMC10291795

Article PDF–3.4M

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NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells

Melissa Owusu-Ansah, Nikita Guptan, Dylon Alindogan, Michio Morizono, Ljubica Caldovic

Int J Mol Sci. 2023 Apr; 24(7): 6754. Published online 2023 Apr 4. doi: 10.3390/ijms24076754

PMCID:: PMC10094985

Article PDF–4.5M

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A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation

Ruoyi Ishikawa, Takamichi Sugimoto, Takafumi Abe, Narumi Ohno, Taku Tazuma, Mayumi Giga, Hiroyuki Naito, Tomoyuki Kono, Eiichi Nomura, Keiichi Hara, Tohru Yorifuji, Takemori Yamawaki

Intern Med. 2022 May 1; 61(9): 1387–1392. Published online 2021 Oct 19. doi: 10.2169/internalmedicine.7961-21

PMCID:: PMC9152872

Article PDF–865K

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Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency

Koji Imoto, Masatake Tanaka, Takeshi Goya, Tomomi Aoyagi, Motoi Takahashi, Miho Kurokawa, Shigeki Tashiro, Masaki Kato, Motoyuki Kohjima, Yoshihiro Ogawa

BMC Gastroenterol. 2022; 22: 144. Published online 2022 Mar 28. doi: 10.1186/s12876-022-02213-0

PMCID:: PMC8962007

Article PDF–1.2M

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CRISPR-Mediated Genomic Addition to CPS1 Deficient iPSCs is Insufficient to Restore Nitrogen Homeostasis

Matthew Nitzahn, Brian Truong, Suhail Khoja, Agustin Vega-Crespo, Colleen Le, Adam Eliav, Georgios Makris, April D. Pyle, Johannes Häberle, Gerald S. Lipshutz

Yale J Biol Med. 2021 Dec; 94(4): 545–557. Published online 2021 Dec 29.

PMCID:: PMC8686786

Article PDF–1.5M

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Brain MR Imaging in Neonatal Hyperammonemic Encephalopathy Resulting from Proximal Urea Cycle Disorders

Jun-ichi Takanashi, A. James Barkovich, Sabrina F. Cheng, Kara Weisiger, Carol O. Zlatunich, Christine Mudge, Philip Rosenthal, Mendel Tuchman, Seymour Packman

AJNR Am J Neuroradiol. 2003 Jun; 24(6): 1184–1187.

PMCID:: PMC8148992

Article PDF–119K

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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

Article PDF–1.5M

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CPS1: Looking at an Ancient Enzyme in a Modern Light

Matthew Nitzahn, Gerald S. Lipshutz

Mol Genet Metab. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Mol Genet Metab. 2020 Nov; 131(3): 289–298. Published online 2020 Oct 10. doi: 10.1016/j.ymgme.2020.10.003

PMCID:: PMC7738762

Article PDF–1.1M

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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

Qingnv Zhou, Huafei Huang, Li Ma, Tianwen Zhu

Biomed Res Int. 2020; 2020: 5690915. Published online 2020 Aug 31. doi: 10.1155/2020/5690915

PMCID:: PMC7479453

Article PDF–763K

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Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency

Matthew Nitzahn, Gabriella Allegri, Suhail Khoja, Brian Truong, Georgios Makris, Johannes Häberle, Gerald S. Lipshutz

Mol Ther. 2020 Jul 8; 28(7): 1717–1730. Published online 2020 Apr 17. doi: 10.1016/j.ymthe.2020.04.011

PMCID:: PMC7335736

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Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency

Lijuan Fan, Jing Zhao, Li Jiang, Lingling Xie, Jiannan Ma, Xiujuan Li, Min Cheng

J Clin Lab Anal. 2020 Apr; 34(4): e23124. Published online 2019 Nov 20. doi: 10.1002/jcla.23124

PMCID:: PMC7171324

Article PDF–648K

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Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing

Guoqing Zhang, Yulin Chen, Huiqun Ju, Fei Bei, Jing Li, Jian Wang, Jianhua Sun, Jun Bu

J Clin Lab Anal. 2018 Feb; 32(2): e22241. Published online 2017 Apr 26. doi: 10.1002/jcla.22241

PMCID:: PMC6817081

Article PDF–895K

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Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy

Xihui Chen, Lijuan Yuan, Mao Sun, Qingbo Liu, Yuanming Wu

J Clin Lab Anal. 2018 Jun; 32(5): e22375. Published online 2018 Jan 4. doi: 10.1002/jcla.22375

PMCID:: PMC6816849

Article PDF–523K

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A Constitutive Knockout of Murine Carbamoyl Phosphate Synthetase 1 Results in Death with Marked Hyperglutaminemia and Hyperammonemia

Suhail Khoja, Matthew Nitzahn, Brian Truong, Jenna Lambert, Brandon Willis, Gabriella Allegri, Véronique Rüfenacht, Johannes Häberle, Gerald S. Lipshutz

J Inherit Metab Dis. Author manuscript; available in PMC 2020 Nov 1.

Published in final edited form as: J Inherit Metab Dis. 2019 Nov; 42(6): 1044–1053. Published online 2019 Mar 5. doi: 10.1002/jimd.12048

PMCID:: PMC6728231

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The Genomic Response to Retinal Disease and Injury: Evidence for Endothelin Signaling from Photoreceptors to Glia

Amir Rattner, Jeremy Nathans

J Neurosci. 2005 May 4; 25(18): 4540–4549. doi: 10.1523/JNEUROSCI.0492-05.2005

PMCID:: PMC6725023

Article PDF–507K

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Hepatic glutamine synthetase augmentation enhances ammonia detoxification.

Leandro R. Soria, Matthew Nitzahn, Angela De Angelis, Suhail Khoja, Sergio Attanasio, Patrizia Annunziata, Donna J. Palmer, Philip Ng, Gerald S. Lipshutz, Nicola Brunetti-Pierri

J Inherit Metab Dis. Author manuscript; available in PMC 2020 Nov 1.

Published in final edited form as: J Inherit Metab Dis. 2019 Nov; 42(6): 1128–1135. Published online 2019 Mar 11. doi: 10.1002/jimd.12070

PMCID:: PMC6684872

Article PDF–814K

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Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

Sunita Bijarnia-Mahay, Johannes Häberle, Anil B. Jalan, Ratna Dua Puri, Sudha Kohli, Ketki Kudalkar, Véronique Rüfenacht, Deepti Gupta, Deepshikha Maurya, Jyotsna Verma, Yosuke Shigematsu, Seiji Yamaguchi, Renu Saxena, Ishwar C. Verma

Orphanet J Rare Dis. 2018; 13: 174. Published online 2018 Oct 1. doi: 10.1186/s13023-018-0908-1

PMCID:: PMC6167905

Article PDF–772K

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Conditional Disruption of Hepatic Carbamoyl Phosphate Synthetase 1 in Mice Results in Hyperammonemia without Orotic Aciduria and Can be Corrected by Liver-Directed Gene Therapy

Suhail Khoja, Matt Nitzahn, Kip Hermann, Brian Truong, Roberta Borzone, Brandon Willis, Mitchell Rudd, Donna J. Palmer, Philip Ng, Nicola Brunetti-Pierri, Gerald S. Lipshutz

Mol Genet Metab. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: Mol Genet Metab. 2018 Aug; 124(4): 243–253. Published online 2018 Apr 12. doi: 10.1016/j.ymgme.2018.04.001