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Items: 18

Select item 92593001.

A Novel PRPS1 Mutation in a Japanese Patient with CMTX5

Shunichi Shirakawa, Tatsufumi Murakami, Akihiro Hashiguchi, Hiroshi Takashima, Hiroshi Hasegawa, Kimiyoshi Ichida, Yoshihide Sunada

Intern Med. 2022 Jun 1; 61(11): 1749–1751. Published online 2021 Nov 20. doi: 10.2169/internalmedicine.8029-21

PMCID:: PMC9259300

Article PDF–157K

Select item 92216002.

Contribution of Model Organisms to Investigating the Far-Reaching Consequences of PRPP Metabolism on Human Health and Well-Being

Eziuche A. Ugbogu, Lilian M. Schweizer, Michael Schweizer

Cells. 2022 Jun; 11(12): 1909. Published online 2022 Jun 13. doi: 10.3390/cells11121909

PMCID:: PMC9221600

Article PDF–3.1M

Select item 76891683.

Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene

Sanna Puusepp, Karit Reinson, Sander Pajusalu, André B.P. van Kuilenburg, Doreen Dobritzsch, Jeroen Roelofsen, Werner Stenzel, Katrin Õunap

Mol Genet Metab Rep. 2020 Dec; 25: 100677. Published online 2020 Nov 18. doi: 10.1016/j.ymgmr.2020.100677

PMCID:: PMC7689168

Article PDF–1.8M

Select item 67322714.

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient

Justine Lerat, Corinne Magdelaine, Paco Derouault, Hélène Beauvais‐Dzugan, Eric Bieth, Blandine Acket, Marie‐Christine Arne‐Bes, Franck Sturtz, Anne‐Sophie Lia

Mol Genet Genomic Med. 2019 Sep; 7(9): e875. Published online 2019 Jul 23. doi: 10.1002/mgg3.875

PMCID:: PMC6732271

Article PDF–756K

Select item 45110875.

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy

Xue Zhong Liu, Dinghua Xie, Hui Jun Yuan, Arjan P. M. de Brouwer, John Christodoulou, Denise Yan

Int J Audiol. Author manuscript; available in PMC 2015 Jul 22.

Published in final edited form as: Int J Audiol. 2013 Jan; 52(1): 23–28. Published online 2012 Nov 28. doi: 10.3109/14992027.2012.736032

PMCID:: PMC4511087

Article PDF–181K

Select item 44582966.

Association of PRPS1 Mutations with Disease Phenotypes

Rahul Mittal, Kunal Patel, Jeenu Mittal, Brandon Chan, Denise Yan, M'hamed Grati, Xue Zhong Liu

Dis Markers. 2015; 2015: 127013. Published online 2015 May 24. doi: 10.1155/2015/127013

PMCID:: PMC4458296

Article PDF–587K

Select item 43267087.

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

Almundher Al-Maawali, Lucie Dupuis, Susan Blaser, Elise Heon, Mark Tarnopolsky, Fathiya Al-Murshedi, Christian R Marshall, Tara Paton, Stephen W Scherer, for the FORGE Canada Consortium, Jeroen Roelofsen, André BP van Kuilenburg, Roberto Mendoza-Londono

Eur J Hum Genet. 2015 Mar; 23(3): 310–316. Published online 2014 Jun 25. doi: 10.1038/ejhg.2014.112

PMCID:: PMC4326708

Article PDF–1.3M

Select item 42727808.

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

Berta Almoguera, Sijie He, Marta Corton, Patricia Fernandez-San Jose, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Javier del Val, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Rosa J Torres, Juan G Puig, Hakon Hakonarson, Xun Xu, Brendan Keating, Carmen Ayuso

Orphanet J Rare Dis. 2014; 9: 190. Published online 2014 Dec 10. doi: 10.1186/s13023-014-0190-9

PMCID:: PMC4272780

Article PDF–1.7M

Select item 39314889.

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

Matthis Synofzik, Jennifer Müller vom Hagen, Tobias B Haack, Christian Wilhelm, Tobias Lindig, Stefanie Beck-Wödl, Sander B Nabuurs, André BP van Kuilenburg, Arjan PM de Brouwer, Ludger Schöls

Orphanet J Rare Dis. 2014; 9: 24. Published online 2014 Feb 14. doi: 10.1186/1750-1172-9-24

PMCID:: PMC3931488

Article PDF–1.9M

Select item 384014110.

Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy

Jin Park, Young Se Hyun, Ye Jin Kim, Soo Hyun Nam, Sung-hee Kim, Young Bin Hong, Jin-Mo Park, Ki Wha Chung, Byung-Ok Choi

J Clin Neurol. 2013 Oct; 9(4): 283–288. Published online 2013 Oct 31. doi: 10.3988/jcn.2013.9.4.283

PMCID:: PMC3840141

Article PDF–585K

Select item 285042711.

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

Arjan P.M. de Brouwer, Hans van Bokhoven, Sander B. Nabuurs, Willem Frans Arts, John Christodoulou, John Duley

Am J Hum Genet. 2010 Apr 9; 86(4): 506–518. doi: 10.1016/j.ajhg.2010.02.024

PMCID:: PMC2850427

Article PDF–861K

Select item 195083312.

Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)

Hee-Jin Kim, Kwang-Min Sohn, Michael E. Shy, Karen M. Krajewski, Miok Hwang, June-Hee Park, Sue-Yon Jang, Hong-Hee Won, Byung-Ok Choi, Sung Hwa Hong, Byoung-Joon Kim, Yeon-Lim Suh, Chang-Seok Ki, Soo-Youn Lee, Sun-Hee Kim, Jong-Won Kim

Am J Hum Genet. 2007 Sep; 81(3): 552–558. Published online 2007 Jun 29. doi: 10.1086/519529

PMCID:: PMC1950833

Article PDF–613K

Select item 601445613.

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation

Anthony N. Cutrupi, Megan H. Brewer, Garth A. Nicholson, Marina L. Kennerson

Mol Genet Genomic Med. 2018 May; 6(3): 422–433. Published online 2018 Mar 23. doi: 10.1002/mgg3.390

PMCID:: PMC6014456

Article PDF–1.6M

Select item 491860814.

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1

JINHO LEE, SUNG-CHUL JUNG, YOUNG BIN HONG, JEONG HYUN YOO, HEASOO KOO, JA HYUN LEE, HYUN DAE HONG, SANG-BEOM KIM, KI WHA CHUNG, BYUNG-OK CHOI

Mol Med Rep. 2016 Jul; 14(1): 33–40. Published online 2016 May 4. doi: 10.3892/mmr.2016.5209

PMCID:: PMC4918608

Article PDF–995K

Select item 399533115.

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

Arianna Tucci, Yo-Tsen Liu, Elisabeth Preza, Robert D S Pitceathly, Annapurna Chalasani, Vincent Plagnol, John M Land, Daniah Trabzuni, Mina Ryten, on behalf of UKBEC, Zane Jaunmuktane, Mary M Reilly, Sebastian Brandner, Iain Hargreaves, John Hardy, Andrew B Singleton, Andrey Y Abramov, Henry Houlden

J Neurol Neurosurg Psychiatry. 2014 May; 85(5): 486–492. Published online 2013 Nov 6. doi: 10.1136/jnnp-2013-306387

PMCID:: PMC3995331

Article PDF–1.1M

Select item 352650916.

Dominant optic atrophy

Guy Lenaers, Christian Hamel, Cécile Delettre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Dan Milea

Orphanet J Rare Dis. 2012; 7: 46. Published online 2012 Jul 9. doi: 10.1186/1750-1172-7-46

PMCID:: PMC3526509

Article PDF–946K

Select item 118026717.

Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma

H. Azzedine, A. Bolino, T. Taïeb, N. Birouk, M. Di Duca, A. Bouhouche, S. Benamou, A. Mrabet, T. Hammadouche, T. Chkili, R. Gouider, R. Ravazzolo, A. Brice, J. Laporte, E. LeGuern

Am J Hum Genet. 2003 May; 72(5): 1141–1153. Published online 2003 Apr 8. doi: 10.1086/375034