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Items: 1 to 20 of 32

1.

Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9.

Cullinane AR, Curry JA, Carmona-Rivera C, Summers CG, Ciccone C, Cardillo ND, Dorward H, Hess RA, White JG, Adams D, Huizing M, Gahl WA.

Am J Hum Genet. 2017 May 4;100(5):837. doi: 10.1016/j.ajhg.2017.04.011. No abstract available.

2.

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Introne WJ, Westbroek W, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Malicdan MC, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C.

Neurology. 2017 Feb 14;88(7):e57-e65. doi: 10.1212/WNL.0000000000003622.

PMID:
28193763
3.

Role of Aquaporin 1 Signalling in Cancer Development and Progression.

Tomita Y, Dorward H, Yool AJ, Smith E, Townsend AR, Price TJ, Hardingham JE.

Int J Mol Sci. 2017 Jan 29;18(2). pii: E299. doi: 10.3390/ijms18020299. Review.

4.

Differential Inhibition of Water and Ion Channel Activities of Mammalian Aquaporin-1 by Two Structurally Related Bacopaside Compounds Derived from the Medicinal Plant Bacopa monnieri.

Pei JV, Kourghi M, De Ieso ML, Campbell EM, Dorward HS, Hardingham JE, Yool AJ.

Mol Pharmacol. 2016 Oct;90(4):496-507. doi: 10.1124/mol.116.105882. Epub 2016 Jul 29.

5.

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Introne WJ, Westbroek W, Cullinane AR, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C.

Neurology. 2016 Apr 5;86(14):1320-8. doi: 10.1212/WNL.0000000000002551. Epub 2016 Mar 4. Erratum in: Neurology. 2017 Feb 14;88(7):721. Corrected and republished in: Neurology. 2017 Feb 14;88(7):e57-e65. Erratum in: Neurology. 2017 Feb 14;88(7):720.

6.

Pharmacological blockade of aquaporin-1 water channel by AqB013 restricts migration and invasiveness of colon cancer cells and prevents endothelial tube formation in vitro.

Dorward HS, Du A, Bruhn MA, Wrin J, Pei JV, Evdokiou A, Price TJ, Yool AJ, Hardingham JE.

J Exp Clin Cancer Res. 2016 Feb 24;35:36. doi: 10.1186/s13046-016-0310-6.

7.

In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.

Ikawa Y, Hess R, Dorward H, Cullinane AR, Huizing M, Gochuico BR, Gahl WA, Candotti F.

Mol Genet Metab. 2015 Jan;114(1):62-5. doi: 10.1016/j.ymgme.2014.11.006. Epub 2014 Nov 12.

8.

Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.

Lam C, Gallo LK, Dineen R, Ciccone C, Dorward H, Hoganson GE, Wolfe L, Gahl WA, Huizing M.

Mol Genet Metab Rep. 2014 Jan 1;1:114-123.

9.

Non-specific accumulation of glycosphingolipids in GNE myopathy.

Patzel KA, Yardeni T, Le Poëc-Celic E, Leoyklang P, Dorward H, Alonzi DS, Kukushkin NV, Xu B, Zhang Y, Sollogoub M, Blériot Y, Gahl WA, Huizing M, Butters TD.

J Inherit Metab Dis. 2014 Mar;37(2):297-308. doi: 10.1007/s10545-013-9655-6. Epub 2013 Oct 18.

10.

Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis.

Cullinane AR, Yeager C, Dorward H, Carmona-Rivera C, Wu HP, Moss J, O'Brien KJ, Nathan SD, Meyer KC, Rosas IO, Helip-Wooley A, Huizing M, Gahl WA, Gochuico BR.

Am J Respir Cell Mol Biol. 2014 Mar;50(3):605-13. doi: 10.1165/rcmb.2013-0025OC.

11.

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.

Leoyklang P, Suphapeetiporn K, Srichomthong C, Tongkobpetch S, Fietze S, Dorward H, Cullinane AR, Gahl WA, Huizing M, Shotelersuk V.

Hum Genet. 2013 Dec;132(12):1383-93. doi: 10.1007/s00439-013-1345-9. Epub 2013 Aug 8.

12.

Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.

Niethamer TK, Yardeni T, Leoyklang P, Ciccone C, Astiz-Martinez A, Jacobs K, Dorward HM, Zerfas PM, Gahl WA, Huizing M.

Mol Genet Metab. 2012 Dec;107(4):748-55. doi: 10.1016/j.ymgme.2012.10.011. Epub 2012 Oct 18.

13.

Cellular and clinical report of new Griscelli syndrome type III cases.

Westbroek W, Klar A, Cullinane AR, Ziegler SG, Hurvitz H, Ganem A, Wilson K, Dorward H, Huizing M, Tamimi H, Vainshtein I, Berkun Y, Lavie M, Gahl WA, Anikster Y.

Pigment Cell Melanoma Res. 2012 Jan;25(1):47-56. doi: 10.1111/j.1755-148X.2011.00901.x. Epub 2011 Oct 3.

14.

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M; NIH Intramural Sequencing Center Group, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP.

Nat Genet. 2011 Aug 14;43(9):883-6. doi: 10.1038/ng.908.

15.

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.

Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA.

Nat Genet. 2011 Jul 17;43(8):732-4. doi: 10.1038/ng.883.

16.

A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

Cullinane AR, Curry JA, Carmona-Rivera C, Summers CG, Ciccone C, Cardillo ND, Dorward H, Hess RA, White JG, Adams D, Huizing M, Gahl WA.

Am J Hum Genet. 2011 Jun 10;88(6):778-787. doi: 10.1016/j.ajhg.2011.05.009. Retraction in: Am J Hum Genet. 2017 May 4;100(5):837.

17.

Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum.

Markello TC, Pak LK, St Hilaire C, Dorward H, Ziegler SG, Chen MY, Chaganti K, Nussbaum RL, Boehm M, Gahl WA.

Mol Genet Metab. 2011 May;103(1):44-50. doi: 10.1016/j.ymgme.2011.01.018. Epub 2011 Feb 3.

18.

A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.

Pei W, Kratz LE, Bernardini I, Sood R, Yokogawa T, Dorward H, Ciccone C, Kelley RI, Anikster Y, Burgess HA, Huizing M, Feldman B.

Development. 2010 Aug 1;137(15):2587-96. doi: 10.1242/dev.043745.

19.

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.

Vincent LM, Gilbert F, DiPace JI, Ciccone C, Markello TC, Jeong A, Dorward H, Westbroek W, Gahl WA, Bussel JB, Huizing M.

Mol Genet Metab. 2010 Sep;101(1):62-5. doi: 10.1016/j.ymgme.2010.05.015. Epub 2010 Jun 10.

20.

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.

Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y.

Mol Genet Metab. 2010 Jun;100(2):149-54. doi: 10.1016/j.ymgme.2010.03.005. Epub 2010 Mar 16.

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