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Items: 28

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.

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.

Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinane AR, Zein W, Brooks BP, Heller T, Soldatos A, Oden NL, Yildirimli D, Vemulapalli M, Mullikin JC, Nisc Comparative Sequencing Program, Malicdan MCV, Gahl WA, Gunay-Aygun M.

Genet Med. 2017 Aug;19(8):875-882. doi: 10.1038/gim.2016.204. Epub 2017 Jan 26.

PMID:
28125082
3.

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.

Poretti A, Snow J, Summers AC, Tekes A, Huisman TAGM, Aygun N, Carson KA, Doherty D, Parisi MA, Toro C, Yildirimli D, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Cullinane AR, Vilboux T, Gahl WA, Gunay-Aygun M.

J Med Genet. 2017 Aug;54(8):521-529. doi: 10.1136/jmedgenet-2016-104425. Epub 2017 Jan 13.

PMID:
28087721
4.

CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.

Vilboux T, Malicdan MC, Roney JC, Cullinane AR, Stephen J, Yildirimli D, Bryant J, Fischer R, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Steinbach PJ, Gahl WA, Gunay-Aygun M.

Am J Med Genet A. 2017 Mar;173(3):661-666. doi: 10.1002/ajmg.a.38005. Epub 2017 Jan 4.

PMID:
28052552
5.

Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.

O'Brien KJ, Lozier J, Cullinane AR, Osorio B, Nghiem K, Speransky V, Zein WM, Mullikin JC, Neff AT, Simon KL, Malicdan MC, Gahl WA, Young LR, Gochuico BR.

Mol Genet Metab. 2016 Nov;119(3):284-287. doi: 10.1016/j.ymgme.2016.08.009. Epub 2016 Sep 3.

6.

Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome.

Gil-Krzewska A, Murakami Y, Peruzzi G, O'Brien KJ, Merideth MA, Cullinane AR, Gahl WA, Coligan JE, Gochuico BR, Krzewski K.

Br J Haematol. 2017 Jan;176(1):118-123. doi: 10.1111/bjh.14390. Epub 2016 Oct 21.

7.

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.

Vilboux T, Malicdan MC, Chang YM, Guo J, Zerfas PM, Stephen J, Cullinane AR, Bryant J, Fischer R, Brooks BP, Zein WM, Wiggs EA, Zalewski CK, Poretti A, Bryan MM, Vemulapalli M, Mullikin JC, Kirby M, Anderson SM; NISC Comparative Sequencing Program, Huizing M, Toro C, Gahl WA, Gunay-Aygun M.

J Med Genet. 2016 May;53(5):318-29. doi: 10.1136/jmedgenet-2015-103416. Epub 2016 Jan 13.

PMID:
27095636
8.

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):1320-1328. doi: 10.1212/WNL.0000000000002551. Epub 2016 Mar 4. Erratum in: Neurology. 2017 Feb 14;88(7):720. Neurology. 2017 Feb 14;88(7):721. Corrected and republished in: Neurology. 2017 Feb 14;88(7):e57-e65.

9.

A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.

Singh A, Bryan MM, Roney JC, Cullinane AR, Gahl WA, Khurana N, Kapoor S.

Int J Dermatol. 2016 Mar;55(3):317-21. doi: 10.1111/ijd.13019. Epub 2015 Oct 24.

PMID:
26499269
10.

Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.

Gil-Krzewska A, Wood SM, Murakami Y, Nguyen V, Chiang SCC, Cullinane AR, Peruzzi G, Gahl WA, Coligan JE, Introne WJ, Bryceson YT, Krzewski K.

J Allergy Clin Immunol. 2016 Apr;137(4):1165-1177. doi: 10.1016/j.jaci.2015.08.039. Epub 2015 Oct 21.

11.

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

Markello T, Chen D, Kwan JY, Horkayne-Szakaly I, Morrison A, Simakova O, Maric I, Lozier J, Cullinane AR, Kilo T, Meister L, Pakzad K, Bone W, Chainani S, Lee E, Links A, Boerkoel C, Fischer R, Toro C, White JG, Gahl WA, Gunay-Aygun M.

Mol Genet Metab. 2015 Mar;114(3):474-82. doi: 10.1016/j.ymgme.2014.12.307. Epub 2014 Dec 24.

12.

Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response.

Wang L, Kantovitz KR, Cullinane AR, Nociti FH Jr, Foster BL, Roney JC, Tran AB, Introne WJ, Somerman MJ.

Orphanet J Rare Dis. 2014 Dec 21;9:212. doi: 10.1186/s13023-014-0212-7.

13.

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.

14.

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.

15.

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.

16.

Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.

Krzewski K, Cullinane AR.

Exp Cell Res. 2013 Sep 10;319(15):2360-7. doi: 10.1016/j.yexcr.2013.06.012. Epub 2013 Jun 26. Review.

17.

The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.

Cullinane AR, Schäffer AA, Huizing M.

Traffic. 2013 Jul;14(7):749-66. doi: 10.1111/tra.12069. Epub 2013 Apr 24. Review.

18.

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

Smith H, Galmes R, Gogolina E, Straatman-Iwanowska A, Reay K, Banushi B, Bruce CK, Cullinane AR, Romero R, Chang R, Ackermann O, Baumann C, Cangul H, Cakmak Celik F, Aygun C, Coward R, Dionisi-Vici C, Sibbles B, Inward C, Kim CA, Klumperman J, Knisely AS, Watson SP, Gissen P.

Hum Mutat. 2012 Dec;33(12):1656-64. doi: 10.1002/humu.22155. Epub 2012 Aug 6.

19.

A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.

Cullinane AR, Curry JA, Golas G, Pan J, Carmona-Rivera C, Hess RA, White JG, Huizing M, Gahl WA.

Pigment Cell Melanoma Res. 2012 Sep;25(5):584-91. doi: 10.1111/j.1755-148X.2012.01029.x. Epub 2012 Aug 2.

20.

The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.

Yang Q, He X, Yang L, Zhou Z, Cullinane AR, Wei A, Zhang Z, Hao Z, Zhang A, He M, Feng Y, Gao X, Gahl WA, Huizing M, Li W.

Traffic. 2012 Aug;13(8):1160-9. doi: 10.1111/j.1600-0854.2012.01375.x. Epub 2012 May 28.

21.

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.

22.

Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.

Cullinane AR, Vilboux T, O'Brien K, Curry JA, Maynard DM, Carlson-Donohoe H, Ciccone C; NISC Comparative Sequencing Program, Markello TC, Gunay-Aygun M, Huizing M, Gahl WA.

J Invest Dermatol. 2011 Oct;131(10):2017-25. doi: 10.1038/jid.2011.157. Epub 2011 Jun 16.

23.

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.

24.

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Müller F, Maher ER, Barr FA, Aligianis IA.

Am J Hum Genet. 2011 Apr 8;88(4):499-507. doi: 10.1016/j.ajhg.2011.03.012. Erratum in: Am J Hum Genet. 2011 May 13;88(5):678. Bond, Frances F [corrected to Bond, Frances C].

25.

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.

Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y, Bruce CK, Luo G, Rahman F, Gürakan F, Utine E, Ozkan TB, Denecke J, Vukovic J, Di Rocco M, Mandel H, Cangul H, Matthews RP, Thomas SG, Rappoport JZ, Arias IM, Wolburg H, Knisely AS, Kelly DA, Müller F, Maher ER, Gissen P.

Nat Genet. 2010 Apr;42(4):303-12. doi: 10.1038/ng.538. Epub 2010 Feb 28. Erratum in: Nat Genet. 2011 Mar;43(3):277.

26.

Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

Cullinane AR, Straatman-Iwanowska A, Seo JK, Ko JS, Song KS, Gizewska M, Gruszfeld D, Gliwicz D, Tuysuz B, Erdemir G, Sougrat R, Wakabayashi Y, Hinds R, Barnicoat A, Mandel H, Chitayat D, Fischler B, Garcia-Cazorla A, Knisely AS, Kelly DA, Maher ER, Gissen P.

Hum Mutat. 2009 Feb;30(2):E330-7. doi: 10.1002/humu.20900.

27.

A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.

Taha D, Khider A, Cullinane AR, Gissen P.

Am J Med Genet A. 2007 Dec 1;143A(23):2835-7. No abstract available.

PMID:
17994566
28.

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA.

Hum Mol Genet. 2007 Jan 15;16(2):173-86. Epub 2006 Dec 21.

PMID:
17185389

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