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Items: 1 to 20 of 100

1.

Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing.

Ritelli M, Palit A, Giacopuzzi E, Inamadar AC, Dordoni C, Mujja A, Murgude MS, Colombi M.

J Dermatol Sci. 2017 Oct;88(1):141-143. doi: 10.1016/j.jdermsci.2017.04.010. Epub 2017 Apr 29. No abstract available.

PMID:
28499588
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. doi: 10.1016/j.ymgme.2013.08.009. Epub 2013 Aug 24.

PMID:
24035636
3.

Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2.

Scherrer DZ, Baptista MB, Matos AH, Maurer-Morelli CV, Steiner CE.

Eur J Med Genet. 2013 Jun;56(6):336-9. doi: 10.1016/j.ejmg.2013.03.006. Epub 2013 Mar 24. No abstract available.

4.

Cutis laxa type II with mutation in the pyrroline-5-carboxylate reductase 1 gene.

Nouri N, Aryani O, Nouri N, Kamalidehghan B, Houshmand M.

Pediatr Dermatol. 2013 Nov-Dec;30(6):e265-7. doi: 10.1111/pde.12065. Epub 2013 Feb 14.

PMID:
23406396
5.

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. doi: 10.1016/j.ajhg.2009.06.008. Epub 2009 Jul 2.

6.

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. doi: 10.1002/ajmg.a.34326. Epub 2011 Nov 3.

PMID:
22052856
7.

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. doi: 10.1002/ajmg.a.33963. Epub 2011 May 12.

PMID:
21567914
8.

De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.

Zampatti S, Castori M, Fischer B, Ferrari P, Garavelli L, Dionisi-Vici C, Agolini E, Wischmeijer A, Morava E, Novelli G, Häberle J, Kornak U, Brancati F.

Am J Med Genet A. 2012 Apr;158A(4):927-31. doi: 10.1002/ajmg.a.35231. Epub 2012 Mar 12. No abstract available.

PMID:
22411858
9.

Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability.

Vahidnezhad H, Karamzadeh R, Saeidian AH, Youssefian L, Sotoudeh S, Zeinali S, Vasei M, Golnabi F, Baghdadi T, Uitto J.

J Invest Dermatol. 2017 Feb;137(2):525-528. doi: 10.1016/j.jid.2016.10.007. Epub 2016 Oct 15. No abstract available.

10.

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. doi: 10.1038/ng.413. Epub 2009 Aug 2.

PMID:
19648921
11.

In silico screening, molecular docking, and molecular dynamics studies of SNP-derived human P5CR mutants.

Sang P, Hu W, Ye YJ, Li LH, Zhang C, Xie YH, Meng ZH.

J Biomol Struct Dyn. 2017 Aug;35(11):2441-2453. doi: 10.1080/07391102.2016.1222967. Epub 2016 Sep 27.

PMID:
27677826
12.

[Clinical and genetic analysis of a patient with cutis laxa].

Zhang P, Wang X, Gao Z, Liu X, Chen Q.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Feb 10;35(1):100-103. doi: 10.3760/cma.j.issn.1003-9406.2018.01.023. Chinese.

PMID:
29419872
13.

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. doi: 10.1002/ajmg.a.33747. Epub 2010 Dec 9.

PMID:
21204221
14.

Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations.

Kouwenberg D, Gardeitchik T, Wevers RA, Häberle J, Morava E.

Am J Med Genet A. 2011 Sep;155A(9):2331-2; author reply 2333-4. doi: 10.1002/ajmg.a.34154. Epub 2011 Aug 10. No abstract available.

PMID:
21834030
15.

De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities.

Dutta AK, Ekbote AV, Thomas N, Omprakash S, Danda S.

Clin Dysmorphol. 2016 Oct;25(4):190-1. doi: 10.1097/MCD.0000000000000142. No abstract available.

PMID:
27379772
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.

De Barsy syndrome and ATP6V0A2-CDG.

Leao-Teles E, Quelhas D, Vilarinho L, Jaeken J.

Eur J Hum Genet. 2010 May;18(5):526; author reply 526. doi: 10.1038/ejhg.2009.218. Epub 2009 Dec 16. No abstract available.

18.

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.

19.

A novel elastin gene mutation in a Vietnamese patient with cutis laxa.

Siefring ML, Lawrence EC, Nguyen TC, Lu D, Pham G, Lorenchick C, Levine KL, Urban Z.

Pediatr Dermatol. 2014 May-Jun;31(3):347-9. doi: 10.1111/pde.12334.

20.

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. doi: 10.1007/s10545-011-9319-3. Epub 2011 Apr 13.

PMID:
21487760

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