PMC Articles for MedGen (Select 199656) - PMC

Sang Su Kwak, Jinkyu Suk, Ji Hye Choi, Seungkyung Yang, Jin Woo Kim, Seonghyang Sohn, Jae Hoon Chung, Yong Hee Hong, Dong Hwan Lee, Jeong Keun Ahn, Hyesun Min, Ya-Min Fu, Gary G Meadows, Cheol O Joe

Autophagy. 2011 Nov; 7(11): 1323–1334. Published online 2011 Nov 1. doi: 10.4161/auto.7.11.16627

PMCID:: PMC3242797

Abstract Article PDF–3.7M

Select item 31219545.

Dihydrofolate reductase protects endothelial nitric oxide synthase from uncoupling in tetrahydrobiopterin deficiency

Mark J. Crabtree, Ashley B. Hale, Keith M. Channon

Free Radic Biol Med. 2011 Jun 1; 50(11): 1639–1646. doi: 10.1016/j.freeradbiomed.2011.03.010

PMCID:: PMC3121954

Abstract Article

Select item 47463186.

Endothelial cell tetrahydrobiopterin deficiency attenuates LPS-induced vascular dysfunction and hypotension

Surawee Chuaiphichai, Anna Starr, Manasi Nandi, Keith M. Channon, Eileen McNeill

Vascul Pharmacol. 2016 Feb; 77: 69–79. doi: 10.1016/j.vph.2015.08.009

PMCID:: PMC4746318

Abstract Article PDF–1.8M

Select item 56029217.

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk

BMC Med Genet. 2017; 18: 102. Published online 2017 Sep 16. doi: 10.1186/s12881-017-0464-x

PMCID:: PMC5602921

Abstract Article PDF–931K

Select item 95364298.

Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency

Lulu Li, Haihe Yang, Jinqi Zhao, Nan Yang, Lifei Gong, Yue Tang, Yuanyuan Kong

Front Genet. 2022; 13: 919209. Published online 2022 Sep 12. doi: 10.3389/fgene.2022.919209

PMCID:: PMC9536429

Abstract Article PDF–1.1M

Select item 44709499.

Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations

Hannaneh Foroozani, Maryam Abiri, Shadab Salehpour, Hamideh Bagherian, Zohreh Sharifi, Mohammad Reza Alaei, Shohreh Khatami, Sara Azadmeh, Aria Setoodeh, Leyli Rejali, Farzaneh Rohani, Sirous Zeinali

JIMD Rep. 2015; 21: 123–128. Published online 2015 May 26. doi: 10.1007/8904_2015_441

PMCID:: PMC4470949

Abstract Article PDF–136K

Select item 979286110.

Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province

Kang Xie, Baitao Zeng, Liuyang Zhang, Shaohong Chen, Yongyi Zou, Huizhen Yuan, Shuhui Huang, Feng Wang, Qing Lu, Yanqiu Liu, Bicheng Yang

Front Genet. 2022; 13: 1077729. Published online 2022 Dec 13. doi: 10.3389/fgene.2022.1077729

PMCID:: PMC9792861

Abstract Article PDF–1.1M

Select item 746305611.

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan

Carla Carducci, Wajdi Amayreh, Haneen Ababneh, Amjad Mahasneh, Buthaina Al Rababah, Kefah Al Qaqa, Momen Al Aqeel, Cristiana Artiola, Manuela Tolve, Sirio D'Amici, Nan Shen, Yongguo Yu, Alicia Hillert, Nastassja Himmelreich, Jürgen G. Okun, Georg F. Hoffmann, Nenad Blau

JIMD Rep. 2020 Sep; 55(1): 59–67. Published online 2020 May 19. doi: 10.1002/jmd2.12130

PMCID:: PMC7463056

Abstract Article PDF–976K

Select item 797692612.

Cranial MR Spectroscopy of Tetrahydrobiopterin Deficiency

Yin-Hsiu Chien, Shiin-Feng Peng, Tso-Ren Wang, Wuh-Liang Hwu

AJNR Am J Neuroradiol. 2002 Jun; 23(6): 1055–1058.

PMCID:: PMC7976926

Abstract Article PDF–82K

Select item 681856113.

Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China

Long Li, Yulan Qin, Yajie Su, Haili Jiang, Nuerya Rejiafu, Mingzhu Li, Ayijiamali Muhetaer, Yongqiao Liu, Yan Ren

J Clin Lab Anal. 2019 Feb; 33(2): e22665. Published online 2018 Sep 17. doi: 10.1002/jcla.22665

PMCID:: PMC6818561

Abstract Article PDF–909K

Select item 974755414.

Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease‐causing variants

Seyedeh Helia Sadat Fatemi, Peyman Eshraghi, Mahmoud Ghanei, Tayebeh Hamzehloei

Mol Genet Genomic Med. 2022 Dec; 10(12): e2081. Published online 2022 Nov 16. doi: 10.1002/mgg3.2081

PMCID:: PMC9747554

Abstract Article PDF–2.3M

Select item 1045106915.

Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China

Xiaolong Qiu, Peiran Zhao, Jinying Luo, Guilin Li, Lin Deng, Yinglin Zeng, Liangpu Xu, Jinfu Zhou

Front Genet. 2023; 14: 1250568. Published online 2023 Aug 11. doi: 10.3389/fgene.2023.1250568

PMCID:: PMC10451069

Abstract Article PDF–1.0M

Select item 389714216.

The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran

Keyvan Moradi, Reza Alibakhshi, Shohreh Khatami

Indian J Hum Genet. 2013 Oct-Dec; 19(4): 454–458. doi: 10.4103/0971-6866.124375

PMCID:: PMC3897142

Abstract Article PDF–263K

Select item 555492217.

Tetrahydrobiopterin in antenatal brain hypoxia-ischemia-induced motor impairments and cerebral palsy

Jeannette Vasquez-Vivar, Zhongjie Shi, Kehuan Luo, Karthikeyan Thirugnanam, Sidhartha Tan

Redox Biol. 2017 Oct; 13: 594–599. Published online 2017 Aug 3. doi: 10.1016/j.redox.2017.08.002

PMCID:: PMC5554922

Abstract Article PDF–496K

Select item 811453018.

Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population

Xin Wang, Yanyun Wang, Dingyuan Ma, Zhilei Zhang, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang

Orphanet J Rare Dis. 2021; 16: 214. Published online 2021 May 12. doi: 10.1186/s13023-021-01846-w

PMCID:: PMC8114530

Abstract Article PDF–1.0M

Select item 536966519.

A fat-derived metabolite regulates a peptidergic feeding circuit in Drosophila

Do-Hyoung Kim, Minjung Shin, Sung-Hwan Jung, Young-Joon Kim, Walton D. Jones

PLoS Biol. 2017 Mar; 15(3): e2000532. Published online 2017 Mar 28. doi: 10.1371/journal.pbio.2000532

PMCID:: PMC5369665

Abstract Article PDF–2.5M

Select item 738306320.

BH4 activates CaMKK2 and rescues the cardiomyopathic phenotype in rodent models of diabetes

Hyoung Kyu Kim, Tae Hee Ko, In-Sung Song, Yu Jeong Jeong, Hye Jin Heo, Seung Hun Jeong, Min Kim, Nam Mi Park, Dae Yun Seo, Pham Trong Kha, Sun-Woo Kim, Sung Ryul Lee, Sung Woo Cho, Jong Chul Won, Jae Boum Youm, Kyung Soo Ko, Byoung Doo Rhee, Nari Kim, Kyoung Im Cho, Ippei Shimizu, Tohru Minamino, Nam-Chul Ha, Young Shik Park, Bernd Nilius, Jin Han

Life Sci Alliance. 2020 Sep; 3(9): e201900619. Published online 2020 Jul 22. doi: 10.26508/lsa.201900619