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Items: 1 to 20 of 38

1.

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.

Zaki MS, Bhat G, Sultan T, Issa M, Jung HJ, Dikoglu E, Selim L, G Mahmoud I, Abdel-Hamid MS, Abdel-Salam G, Marin-Valencia I, Gleeson JG.

Ann Neurol. 2016 Jul;80(1):59-70. doi: 10.1002/ana.24678. Epub 2016 Jun 1.

PMID:
27130255
2.

PYCR1 and PYCR2 Interact and Collaborate with RRM2B to Protect Cells from Overt Oxidative Stress.

Kuo ML, Lee MB, Tang M, den Besten W, Hu S, Sweredoski MJ, Hess S, Chou CM, Changou CA, Su M, Jia W, Su L, Yen Y.

Sci Rep. 2016 Jan 6;6:18846. doi: 10.1038/srep18846.

3.

Proline biosynthesis augments tumor cell growth and aerobic glycolysis: involvement of pyridine nucleotides.

Liu W, Hancock CN, Fischer JW, Harman M, Phang JM.

Sci Rep. 2015 Nov 24;5:17206. doi: 10.1038/srep17206.

4.

The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity.

Goyal M, Singh A, Kornak U, Kapoor S.

Indian J Dermatol. 2015 Sep-Oct;60(5):521. doi: 10.4103/0019-5154.164434.

5.

Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report.

Rahmati M, Yazdanparast M, Jahanshahi K, Zakeri M.

Electron Physician. 2015 Oct 19;7(6):1391-3. doi: 10.14661/1391. eCollection 2015 Oct.

6.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U.

Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27.

7.

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G.

Brain. 2015 Aug;138(Pt 8):2191-205. doi: 10.1093/brain/awv143. Epub 2015 May 29.

8.

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G, Barkovich AJ, Markianos K, Poduri A, Mochida GH.

Am J Hum Genet. 2015 May 7;96(5):709-19. doi: 10.1016/j.ajhg.2015.03.003. Epub 2015 Apr 9.

9.

Ornithine-δ-Aminotransferase Inhibits Neurogenesis During Xenopus Embryonic Development.

Peng Y, Cooper SK, Li Y, Mei JM, Qiu S, Borchert GL, Donald SP, Kung HF, Phang JM.

Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2486-97. doi: 10.1167/iovs.15-16509.

10.

Using familial information for variant filtering in high-throughput sequencing studies.

Bahlo M, Tankard R, Lukic V, Oliver KL, Smith KR.

Hum Genet. 2014 Nov;133(11):1331-41. doi: 10.1007/s00439-014-1479-4. Epub 2014 Aug 17. Review. Erratum in: Hum Genet. 2015 May;134(5):509.

11.

Proline biosynthesis is required for endoplasmic reticulum stress tolerance in Saccharomyces cerevisiae.

Liang X, Dickman MB, Becker DF.

J Biol Chem. 2014 Oct 3;289(40):27794-806. doi: 10.1074/jbc.M114.562827. Epub 2014 Aug 11.

12.

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.

Handley MT, Mégarbané A, Meynert AM, Brown S, Freyer E, Taylor MS, Jackson IJ, Aligianis IA.

Mol Genet Genomic Med. 2014 Jul;2(4):319-25. doi: 10.1002/mgg3.70. Epub 2014 Mar 11.

13.

Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions.

Mamaï O, Boussofara L, Denguezli M, Escande-Beillard N, Kraeim W, Merriman B, Ben Charfeddine I, Stevanin G, Bouraoui S, Amara A, Mili A, Nouira R, H'mida D, Sriha B, Gribaa M, Saad A, Reversade B.

J Invest Dermatol. 2015 Jan;135(1):304-8. doi: 10.1038/jid.2014.311. Epub 2014 Jul 22. No abstract available.

14.

Metabolic enzyme expression highlights a key role for MTHFD2 and the mitochondrial folate pathway in cancer.

Nilsson R, Jain M, Madhusudhan N, Sheppard NG, Strittmatter L, Kampf C, Huang J, Asplund A, Mootha VK.

Nat Commun. 2014;5:3128. doi: 10.1038/ncomms4128.

15.

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.

Navarro CL, Esteves-Vieira V, Courrier S, Boyer A, Duong Nguyen T, Huong le TT, Meinke P, Schröder W, Cormier-Daire V, Sznajer Y, Amor DJ, Lagerstedt K, Biervliet M, van den Akker PC, Cau P, Roll P, Lévy N, Badens C, Wehnert M, De Sandre-Giovannoli A.

Eur J Hum Genet. 2014 Aug;22(8):1002-11. doi: 10.1038/ejhg.2013.258. Epub 2013 Oct 30.

16.

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, Parker M, Kim KJ, Lim BC, Häberle J, Garavelli L, Jagadeesh S, Kariminejad A, Guerra D, Leão M, Keski-Filppula R, Brunner H, Nijtmans L, van den Heuvel B, Wevers R, Kornak U, Morava E.

Eur J Hum Genet. 2014 Jul;22(7):888-95. doi: 10.1038/ejhg.2013.154. Epub 2013 Aug 21.

17.

Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism.

Urban Z, Davis EC.

Matrix Biol. 2014 Jan;33:16-22. doi: 10.1016/j.matbio.2013.07.006. Epub 2013 Aug 16. Review.

18.

Proline mechanisms of stress survival.

Liang X, Zhang L, Natarajan SK, Becker DF.

Antioxid Redox Signal. 2013 Sep 20;19(9):998-1011. doi: 10.1089/ars.2012.5074. Epub 2013 May 23. Review.

19.

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

Hadj-Rabia S, Callewaert BL, Bourrat E, Kempers M, Plomp AS, Layet V, Bartholdi D, Renard M, De Backer J, Malfait F, Vanakker OM, Coucke PJ, De Paepe AM, Bodemer C.

Orphanet J Rare Dis. 2013 Feb 25;8:36. doi: 10.1186/1750-1172-8-36.

20.

Bridging epigenetics and metabolism: role of non-essential amino acids.

Phang JM, Liu W, Hancock C.

Epigenetics. 2013 Mar;8(3):231-6. doi: 10.4161/epi.24042. Epub 2013 Feb 19.

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