These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

179 related articles for article (PubMed ID: 30574417)

  • 1. A Transcriptome Study of Progeroid Neurocutaneous Syndrome Reveals POSTN As a New Element in Proline Metabolic Disorder.
    Huang YW; Chiang MF; Ho CS; Hung PL; Hsu MH; Lee TH; Chu LJ; Liu H; Tang P; Victor Ng W; Lin DS
    Aging Dis; 2018 Dec; 9(6):1043-1057. PubMed ID: 30574417
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
    Dimopoulou A; Fischer B; Gardeitchik T; Schröter P; Kayserili H; Schlack C; Li Y; Brum JM; Barisic I; Castori M; Spaich C; Fletcher E; Mahayri Z; Bhat M; Girisha KM; Lachlan K; Johnson D; Phadke S; Gupta N; Simandlova M; Kabra M; David A; Nijtmans L; Chitayat D; Tuysuz B; Brancati F; Mundlos S; Van Maldergem L; Morava E; Wollnik B; Kornak U
    Mol Genet Metab; 2013 Nov; 110(3):352-61. PubMed ID: 24035636
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 97(3):483-92. PubMed ID: 26320891
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.
    Lin DS; Yeung CY; Liu HL; Ho CS; Shu CH; Chuang CK; Huang YW; Wu TY; Huang ZD; Jian YR; Lin SP
    Am J Med Genet A; 2011 Jun; 155A(6):1285-9. PubMed ID: 21567914
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.
    Yildirim Y; Tolun A; Tüysüz B
    Am J Med Genet A; 2011 Jan; 155A(1):134-40. PubMed ID: 21204221
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in PYCR1 cause cutis laxa with progeroid features.
    Reversade B; Escande-Beillard N; Dimopoulou A; Fischer B; Chng SC; Li Y; Shboul M; Tham PY; Kayserili H; Al-Gazali L; Shahwan M; Brancati F; Lee H; O'Connor BD; Schmidt-von Kegler M; Merriman B; Nelson SF; Masri A; Alkazaleh F; Guerra D; Ferrari P; Nanda A; Rajab A; Markie D; Gray M; Nelson J; Grix A; Sommer A; Savarirayan R; Janecke AR; Steichen E; Sillence D; Hausser I; Budde B; Nürnberg G; Nürnberg P; Seemann P; Kunkel D; Zambruno G; Dallapiccola B; Schuelke M; Robertson S; Hamamy H; Wollnik B; Van Maldergem L; Mundlos S; Kornak U
    Nat Genet; 2009 Sep; 41(9):1016-21. PubMed ID: 19648921
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Zebrafish Carrying
    Liang ST; Audira G; Juniardi S; Chen JR; Lai YH; Du ZC; Lin DS; Hsiao CD
    Cells; 2019 May; 8(5):. PubMed ID: 31091804
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
    Kariminejad A; Afroozan F; Bozorgmehr B; Ghanadan A; Akbaroghli S; Khorram Khorshid HR; Mojahedi F; Setoodeh A; Loh A; Tan YX; Escande-Beillard N; Malfait F; Reversade B; Gardeitchik T; Morava E
    Int J Mol Sci; 2017 Mar; 18(3):. PubMed ID: 28294978
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.
    Fischer B; Callewaert B; Schröter P; Coucke PJ; Schlack C; Ott CE; Morroni M; Homann W; Mundlos S; Morava E; Ficcadenti A; Kornak U
    Mol Genet Metab; 2014 Aug; 112(4):310-6. PubMed ID: 24913064
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic analysis of Pycr1 and Pycr2 in mice.
    Stum MG; Tadenev ALD; Seburn KL; Miers KE; Poon PP; McMaster CR; Robinson C; Kane C; Silva KA; Cliften PF; Sundberg JP; Reinholdt LG; John SWM; Burgess RW
    Genetics; 2021 May; 218(1):. PubMed ID: 33734376
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
    Guernsey DL; Jiang H; Evans SC; Ferguson M; Matsuoka M; Nightingale M; Rideout AL; Provost S; Bedard K; Orr A; Dubé MP; Ludman M; Samuels ME
    Am J Hum Genet; 2009 Jul; 85(1):120-9. PubMed ID: 19576563
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
    Kretz R; Bozorgmehr B; Kariminejad MH; Rohrbach M; Hausser I; Baumer A; Baumgartner M; Giunta C; Kariminejad A; Häberle J
    J Inherit Metab Dis; 2011 Jun; 34(3):731-9. PubMed ID: 21487760
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.
    Lin DS; Chang JH; Liu HL; Wei CH; Yeung CY; Ho CS; Shu CH; Chiang MF; Chuang CK; Huang YW; Wu TY; Jian YR; Huang ZD; Lin SP
    Am J Med Genet A; 2011 Dec; 155A(12):3095-9. PubMed ID: 22052856
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Sublethal endoplasmic reticulum stress caused by the mutation of immunoglobulin heavy chain-binding protein induces the synthesis of a mitochondrial protein, pyrroline-5-carboxylate reductase 1.
    Jin H; Komita M; Koseki H; Aoe T
    Cell Stress Chaperones; 2017 Jan; 22(1):77-85. PubMed ID: 27796797
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 23963297
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.
    Graul-Neumann LM; Hausser I; Essayie M; Rauch A; Kraus C
    Am J Med Genet A; 2008 Apr; 146A(8):977-83. PubMed ID: 18348261
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Resolving the cofactor-binding site in the proline biosynthetic enzyme human pyrroline-5-carboxylate reductase 1.
    Christensen EM; Patel SM; Korasick DA; Campbell AC; Krause KL; Becker DF; Tanner JJ
    J Biol Chem; 2017 Apr; 292(17):7233-7243. PubMed ID: 28258219
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
    Fischer B; Dimopoulou A; Egerer J; Gardeitchik T; Kidd A; Jost D; Kayserili H; Alanay Y; Tantcheva-Poor I; Mangold E; Daumer-Haas C; Phadke S; Peirano RI; Heusel J; Desphande C; Gupta N; Nanda A; Felix E; Berry-Kravis E; Kabra M; Wevers RA; van Maldergem L; Mundlos S; Morava E; Kornak U
    Hum Genet; 2012 Nov; 131(11):1761-73. PubMed ID: 22773132
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Metabolomic and transcriptomic studies of improvements in myocardial infarction due to Pycr1 deletion.
    Xue Z; Pan Y; Kong X; Zhang J; Wu D; Zhou B
    J Cell Mol Med; 2023 Jan; 27(1):89-100. PubMed ID: 36495058
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.
    Beyens A; Pottie L; Sips P; Callewaert B
    Adv Exp Med Biol; 2021; 1348():273-309. PubMed ID: 34807425
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.