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Items: 1 to 20 of 40

1.

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 15;18(3). pii: E635. doi: 10.3390/ijms18030635. Review.

2.

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

Pérez-Cerdá C, Girós ML, Serrano M, Ecay MJ, Gort L, Pérez Dueñas B, Medrano C, García-Alix A, Artuch R, Briones P, Pérez B.

J Pediatr. 2017 Apr;183:170-177.e1. doi: 10.1016/j.jpeds.2016.12.060. Epub 2017 Jan 27.

PMID:
28139241
3.

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.

Al Teneiji A, Bruun TU, Sidky S, Cordeiro D, Cohn RD, Mendoza-Londono R, Moharir M, Raiman J, Siriwardena K, Kyriakopoulou L, Mercimek-Mahmutoglu S.

Mol Genet Metab. 2017 Mar;120(3):235-242. doi: 10.1016/j.ymgme.2016.12.014. Epub 2017 Jan 3.

PMID:
28122681
4.

Hyperhomocysteinemia causes ER stress and impaired autophagy that is reversed by Vitamin B supplementation.

Tripathi M, Zhang CW, Singh BK, Sinha RA, Moe KT, DeSilva DA, Yen PM.

Cell Death Dis. 2016 Dec 8;7(12):e2513. doi: 10.1038/cddis.2016.374.

5.

The V-ATPase a2 isoform controls mammary gland development through Notch and TGF-β signaling.

Pamarthy S, Mao L, Katara GK, Fleetwood S, Kulshreshta A, Gilman-Sachs A, Beaman KD.

Cell Death Dis. 2016 Nov 3;7(11):e2443. doi: 10.1038/cddis.2016.347.

6.

Binding interactions of the peripheral stalk subunit isoforms from human V-ATPase.

Rahman S, Yamato I, Saijo S, Mizutani K, Takamuku Y, Ishizuka-Katsura Y, Ohsawa N, Terada T, Shirouzu M, Yokoyama S, Murata T.

Biosci Biotechnol Biochem. 2016 May;80(5):878-90. doi: 10.1080/09168451.2015.1135043. Epub 2016 Feb 10.

PMID:
26865189
7.

Impaired ATP6V0A2 expression contributes to Golgi dispersion and glycosylation changes in senescent cells.

Udono M, Fujii K, Harada G, Tsuzuki Y, Kadooka K, Zhang P, Fujii H, Amano M, Nishimura S, Tashiro K, Kuhara S, Katakura Y.

Sci Rep. 2015 Nov 27;5:17342. doi: 10.1038/srep17342.

8.

Breast cancer associated a2 isoform vacuolar ATPase immunomodulates neutrophils: potential role in tumor progression.

Ibrahim SA, Katara GK, Kulshrestha A, Jaiswal MK, Amin MA, Beaman KD.

Oncotarget. 2015 Oct 20;6(32):33033-45. doi: 10.18632/oncotarget.5439.

9.

The Vacuolar ATPase a2-subunit regulates Notch signaling in triple-negative breast cancer cells.

Pamarthy S, Jaiswal MK, Kulshreshtha A, Katara GK, Gilman-Sachs A, Beaman KD.

Oncotarget. 2015 Oct 27;6(33):34206-20. doi: 10.18632/oncotarget.5275.

10.

The vacuolar H+ ATPase is a novel therapeutic target for glioblastoma.

Di Cristofori A, Ferrero S, Bertolini I, Gaudioso G, Russo MV, Berno V, Vanini M, Locatelli M, Zavanone M, Rampini P, Vaccari T, Caroli M, Vaira V.

Oncotarget. 2015 Jul 10;6(19):17514-31.

11.

Expression and role of a2 vacuolar-ATPase (a2V) in trafficking of human neutrophil granules and exocytosis.

Gilman-Sachs A, Tikoo A, Akman-Anderson L, Jaiswal M, Ntrivalas E, Beaman K.

J Leukoc Biol. 2015 Jun;97(6):1121-31. doi: 10.1189/jlb.3A1214-620RR. Epub 2015 Apr 15.

12.

Vacuolar ATPase 'a2' isoform exhibits distinct cell surface accumulation and modulates matrix metalloproteinase activity in ovarian cancer.

Kulshrestha A, Katara GK, Ibrahim S, Pamarthy S, Jaiswal MK, Gilman Sachs A, Beaman KD.

Oncotarget. 2015 Feb 28;6(6):3797-810.

13.

MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis.

Yen-Nicolaÿ S, Boursier C, Rio M, Lefeber DJ, Pilon A, Seta N, Bruneel A.

Proteomics Clin Appl. 2015 Aug;9(7-8):787-93. doi: 10.1002/prca.201400187. Epub 2015 Mar 24.

PMID:
25641685
14.

Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model.

Jang HM, Erf GF, Rowland KC, Kong BW.

BMC Genomics. 2014 Aug 23;15:707. doi: 10.1186/1471-2164-15-707.

15.

Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing.

Ritelli M, Chiarelli N, Quinzani S, Dordoni C, Venturini M, Pezzani L, Calzavara-Pinton P, Colombi M.

J Dermatol Sci. 2014 Jul;75(1):66-8. doi: 10.1016/j.jdermsci.2014.04.004. Epub 2014 Apr 18. No abstract available.

PMID:
24815019
16.

Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.

Kouwenberg D, Gardeitchik T, Mohamed M, Lefeber DJ, Morava E.

Pediatr Dermatol. 2014 Jan-Feb;31(1):e1-5. Review.

PMID:
24555185
17.

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.

Greally MT, Kalis NN, Agab W, Ardati K, Giurgea S, Kornak U, Van Maldergem L.

Am J Med Genet A. 2014 May;164A(5):1245-53. doi: 10.1002/ajmg.a.36411. Epub 2014 Jan 29.

PMID:
24478233
18.

Tumor-associated vacuolar ATPase subunit promotes tumorigenic characteristics in macrophages.

Katara GK, Jaiswal MK, Kulshrestha A, Kolli B, Gilman-Sachs A, Beaman KD.

Oncogene. 2014 Dec 4;33(49):5649-54. doi: 10.1038/onc.2013.532. Epub 2013 Dec 23.

PMID:
24362525
19.

Regulation of apoptosis and innate immune stimuli in inflammation-induced preterm labor.

Jaiswal MK, Agrawal V, Mallers T, Gilman-Sachs A, Hirsch E, Beaman KD.

J Immunol. 2013 Dec 1;191(11):5702-13. doi: 10.4049/jimmunol.1301604. Epub 2013 Oct 25.

20.

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.

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