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Items: 1 to 50 of 146

1.

Role of Alström syndrome 1 in the regulation of blood pressure and renal function.

Jaykumar AB, Caceres PS, King-Medina KN, Liao TD, Datta I, Maskey D, Naggert JK, Mendez M, Beierwaltes WH, Ortiz PA.

JCI Insight. 2018 Nov 2;3(21). pii: 95076. doi: 10.1172/jci.insight.95076.

2.

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.

Waldman M, Han JC, Reyes-Capo DP, Bryant J, Carson KA, Turkbey B, Choyke P, Naggert JK, Gahl WA, Marshall JD, Gunay-Aygun M.

Mol Genet Metab. 2018 Sep;125(1-2):181-191. doi: 10.1016/j.ymgme.2018.07.010. Epub 2018 Jul 24.

PMID:
30064963
3.

An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency.

Kong Y, Zhao L, Charette JR, Hicks WL, Stone L, Nishina PM, Naggert JK.

Hum Mol Genet. 2018 Oct 1;27(19):3340-3352. doi: 10.1093/hmg/ddy238.

PMID:
29947801
4.

The Impact of Adherens and Tight Junctions on Physiological Function and Pathological Changes in the Retina.

Kong Y, Naggert JK, Nishina PM.

Adv Exp Med Biol. 2018;1074:545-551. doi: 10.1007/978-3-319-75402-4_66. Review.

PMID:
29721986
5.

Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.

Han JC, Reyes-Capo DP, Liu CY, Reynolds JC, Turkbey E, Turkbey IB, Bryant J, Marshall JD, Naggert JK, Gahl WA, Yanovski JA, Gunay-Aygun M.

J Clin Endocrinol Metab. 2018 Jul 1;103(7):2707-2719. doi: 10.1210/jc.2018-00496.

6.

Triple Vectors Expand AAV Transfer Capacity in the Retina.

Maddalena A, Tornabene P, Tiberi P, Minopoli R, Manfredi A, Mutarelli M, Rossi S, Simonelli F, Naggert JK, Cacchiarelli D, Auricchio A.

Mol Ther. 2018 Feb 7;26(2):524-541. doi: 10.1016/j.ymthe.2017.11.019. Epub 2017 Dec 5.

7.

Mouse models of human ocular disease for translational research.

Krebs MP, Collin GB, Hicks WL, Yu M, Charette JR, Shi LY, Wang J, Naggert JK, Peachey NS, Nishina PM.

PLoS One. 2017 Aug 31;12(8):e0183837. doi: 10.1371/journal.pone.0183837. eCollection 2017.

8.

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.

Brofferio A, Sachdev V, Hannoush H, Marshall JD, Naggert JK, Sidenko S, Noreuil A, Sirajuddin A, Bryant J, Han JC, Arai AE, Gahl WA, Gunay-Aygun M.

Mol Genet Metab. 2017 Aug;121(4):336-343. doi: 10.1016/j.ymgme.2017.05.017. Epub 2017 May 30.

9.

Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.

Lindsey S, Brewer C, Stakhovskaya O, Kim HJ, Zalewski C, Bryant J, King KA, Naggert JK, Gahl WA, Marshall JD, Gunay-Aygun M.

Am J Med Genet A. 2017 Aug;173(8):2210-2218. doi: 10.1002/ajmg.a.38316. Epub 2017 Jun 1.

10.

Spectral-domain optical coherence tomography findings in Alström syndrome.

Dotan G, Khetan V, Marshall JD, Affel E, Armiger-George D, Naggert JK, Collin GB, Levin AV.

Ophthalmic Genet. 2017 Sep-Oct;38(5):440-445. doi: 10.1080/13816810.2016.1257029. Epub 2017 Jan 23.

11.

Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome.

Chakroun A, Ben Said M, Ennouri A, Achour I, Mnif M, Abid M, Ghorbel A, Marshall JD, Naggert JK, Masmoudi S.

Eur J Med Genet. 2016 Sep;59(9):444-51. doi: 10.1016/j.ejmg.2016.08.004. Epub 2016 Aug 12.

12.

Pituitary morphovolumetric changes in Alström syndrome.

Citton V, Maffei P, Marshall JD, Baglione A, Collin GB, Milan G, Vettor R, Naggert JK, Manara R.

J Neuroradiol. 2016 Jun;43(3):195-9. doi: 10.1016/j.neurad.2015.10.005. Epub 2015 Dec 17.

13.

Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration.

Zhao L, Spassieva S, Gable K, Gupta SD, Shi LY, Wang J, Bielawski J, Hicks WL, Krebs MP, Naggert J, Hannun YA, Dunn TM, Nishina PM.

Proc Natl Acad Sci U S A. 2015 Oct 20;112(42):12962-7. doi: 10.1073/pnas.1516733112. Epub 2015 Oct 5.

14.

Lysosomal Trafficking Regulator (LYST).

Ji X, Chang B, Naggert JK, Nishina PM.

Adv Exp Med Biol. 2016;854:745-50. doi: 10.1007/978-3-319-17121-0_99.

PMID:
26427484
15.

A Chemical Mutagenesis Screen Identifies Mouse Models with ERG Defects.

Charette JR, Samuels IS, Yu M, Stone L, Hicks W, Shi LY, Krebs MP, Naggert JK, Nishina PM, Peachey NS.

Adv Exp Med Biol. 2016;854:177-83. doi: 10.1007/978-3-319-17121-0_24.

PMID:
26427409
16.

Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.

Collin GB, Hubmacher D, Charette JR, Hicks WL, Stone L, Yu M, Naggert JK, Krebs MP, Peachey NS, Apte SS, Nishina PM.

Hum Mol Genet. 2015 Dec 15;24(24):6958-74. doi: 10.1093/hmg/ddv399. Epub 2015 Sep 24.

17.

A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia.

Maddox DM, Collin GB, Ikeda A, Pratt CH, Ikeda S, Johnson BA, Hurd RE, Shopland LS, Naggert JK, Chang B, Krebs MP, Nishina PM.

Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3776-87. doi: 10.1167/iovs.14-16047.

18.

Alström Syndrome: Mutation Spectrum of ALMS1.

Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, Farrow EG, Miller NA, Favaretto F, Maffei P, Dollfus H, Vettor R, Naggert JK.

Hum Mutat. 2015 Jul;36(7):660-8. doi: 10.1002/humu.22796. Epub 2015 May 18.

19.

Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes.

Butler MG, Wang K, Marshall JD, Naggert JK, Rethmeyer JA, Gunewardena SS, Manzardo AM.

Adv Genomics Genet. 2015;2015(5):53-75.

20.

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

Ozantürk A, Marshall JD, Collin GB, Düzenli S, Marshall RP, Candan Ş, Tos T, Esen İ, Taşkesen M, Çayır A, Öztürk Ş, Üstün İ, Ataman E, Karaca E, Özdemir TR, Erol İ, Eroğlu FK, Torun D, Parıltay E, Yılmaz-Güleç E, Karaca E, Atabek ME, Elçioğlu N, Satman İ, Möller C, Muller J, Naggert JK, Özgül RK.

J Hum Genet. 2015 Jan;60(1):51. doi: 10.1038/jhg.2014.101. No abstract available.

PMID:
25619591
21.

Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs.

Soundararajan R, Won J, Stearns TM, Charette JR, Hicks WL, Collin GB, Naggert JK, Krebs MP, Nishina PM.

PLoS One. 2014 Oct 30;9(10):e110299. doi: 10.1371/journal.pone.0110299. eCollection 2014.

22.

Degeneration and plasticity of the optic pathway in Alström syndrome.

Manara R, Citton V, Maffei P, Marshall JD, Naggert JK, Milan G, Vettor R, Baglione A, Vitale A, Briani C, Di Salle F, Favaro A.

AJNR Am J Neuroradiol. 2015 Jan;36(1):160-5. doi: 10.3174/ajnr.A4115. Epub 2014 Oct 29.

23.

GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance.

Favaretto F, Milan G, Collin GB, Marshall JD, Stasi F, Maffei P, Vettor R, Naggert JK.

PLoS One. 2014 Oct 9;9(10):e109540. doi: 10.1371/journal.pone.0109540. eCollection 2014.

24.

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

Ozantürk A, Marshall JD, Collin GB, Düzenli S, Marshall RP, Candan Ş, Tos T, Esen İ, Taşkesen M, Çayır A, Öztürk Ş, Üstün İ, Ataman E, Karaca E, Özdemir TR, Erol İ, Eroğlu FK, Torun D, Parıltay E, Yılmaz-Güleç E, Karaca E, Atabek ME, Elçioğlu N, Satman İ, Möller C, Muller J, Naggert JK, Özgül RK.

J Hum Genet. 2015 Jan;60(1):1-9. doi: 10.1038/jhg.2014.85. Epub 2014 Oct 9. Review. Erratum in: J Hum Genet. 2015 Jan;60(1):51.

25.

Mutations in Alström protein impair terminal differentiation of cardiomyocytes.

Shenje LT, Andersen P, Halushka MK, Lui C, Fernandez L, Collin GB, Amat-Alarcon N, Meschino W, Cutz E, Chang K, Yonescu R, Batista DA, Chen Y, Chelko S, Crosson JE, Scheel J, Vricella L, Craig BD, Marosy BA, Mohr DW, Hetrick KN, Romm JM, Scott AF, Valle D, Naggert JK, Kwon C, Doheny KF, Judge DP.

Nat Commun. 2014 Mar 4;5:3416. doi: 10.1038/ncomms4416.

26.

Genetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis.

Won J, Charette JR, Philip VM, Stearns TM, Zhang W, Naggert JK, Krebs MP, Nishina PM.

Exp Eye Res. 2014 Jan;118:30-5. doi: 10.1016/j.exer.2013.10.020. Epub 2013 Nov 4.

27.

Clinical utility gene card for: Alström Syndrome - update 2013.

Marshall JD, Maffei P, Beck S, Barrett TG, Paisey R, Naggert JK.

Eur J Hum Genet. 2013 Nov;21(11). doi: 10.1038/ejhg.2013.61. Epub 2013 Apr 24. No abstract available.

28.

Alström syndrome is associated with short stature and reduced GH reserve.

Romano S, Maffei P, Bettini V, Milan G, Favaretto F, Gardiman M, Marshall JD, Greggio NA, Pozzan GB, Collin GB, Naggert JK, Bronson R, Vettor R.

Clin Endocrinol (Oxf). 2013 Oct;79(4):529-36. doi: 10.1111/cen.12180. Epub 2013 Mar 26.

29.

Brain involvement in Alström syndrome.

Citton V, Favaro A, Bettini V, Gabrieli J, Milan G, Greggio NA, Marshall JD, Naggert JK, Manara R, Maffei P.

Orphanet J Rare Dis. 2013 Feb 13;8:24. doi: 10.1186/1750-1172-8-24.

30.

Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.

Kuburović V, Marshall JD, Collin GB, Nykamp K, Kuburović N, Milenković T, Rakić S, Djuric M, Ječmenica J, Milenković S, Naggert JK.

Clin Dysmorphol. 2013 Jan;22(1):7-12. doi: 10.1097/MCD.0b013e32835b9017.

31.

The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway.

Collin GB, Marshall JD, King BL, Milan G, Maffei P, Jagger DJ, Naggert JK.

PLoS One. 2012;7(5):e37925. doi: 10.1371/journal.pone.0037925. Epub 2012 May 31.

32.

Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome.

Taşdemir S, Güzel-Ozantürk A, Marshall JD, Collin GB, Ozgül RK, Narin N, Dündar M, Naggert JK.

Clin Genet. 2013 Jan;83(1):96-8. doi: 10.1111/j.1399-0004.2012.01883.x. Epub 2012 Apr 25. No abstract available.

33.

Alström syndrome: cardiac magnetic resonance findings.

Corbetti F, Razzolini R, Bettini V, Marshall JD, Naggert J, Tona F, Milan G, Maffei P.

Int J Cardiol. 2013 Aug 20;167(4):1257-63. doi: 10.1016/j.ijcard.2012.03.160. Epub 2012 Apr 10.

34.

Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome.

Mahamid J, Lorber A, Horovitz Y, Shalev SA, Collin GB, Naggert JK, Marshall JD, Spiegel R.

Pediatr Cardiol. 2013 Feb;34(2):455-8. doi: 10.1007/s00246-012-0296-6. Epub 2012 Mar 24.

35.

An allele of microtubule-associated protein 1A (Mtap1a) reduces photoreceptor degeneration in Tulp1 and Tub Mutant Mice.

Maddox DM, Ikeda S, Ikeda A, Zhang W, Krebs MP, Nishina PM, Naggert JK.

Invest Ophthalmol Vis Sci. 2012 Mar 26;53(3):1663-9. doi: 10.1167/iovs.11-8871. Print 2012 Mar.

36.

Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis.

Collin GB, Won J, Hicks WL, Cook SA, Nishina PM, Naggert JK.

Invest Ophthalmol Vis Sci. 2012 Feb 23;53(2):967-74. doi: 10.1167/iovs.11-8766. Print 2012 Feb.

37.

Proteomic analysis of mitotic RNA polymerase II reveals novel interactors and association with proteins dysfunctional in disease.

Möller A, Xie SQ, Hosp F, Lang B, Phatnani HP, James S, Ramirez F, Collin GB, Naggert JK, Babu MM, Greenleaf AL, Selbach M, Pombo A.

Mol Cell Proteomics. 2012 Jun;11(6):M111.011767. doi: 10.1074/mcp.M111.011767. Epub 2011 Dec 22.

38.

Translational vision research models program.

Won J, Shi LY, Hicks W, Wang J, Naggert JK, Nishina PM.

Adv Exp Med Biol. 2012;723:391-7. doi: 10.1007/978-1-4614-0631-0_50.

PMID:
22183357
39.

Alström syndrome: genetics and clinical overview.

Marshall JD, Maffei P, Collin GB, Naggert JK.

Curr Genomics. 2011 May;12(3):225-35. doi: 10.2174/138920211795677912.

40.

Novel Alu retrotransposon insertion leading to Alström syndrome.

Taşkesen M, Collin GB, Evsikov AV, Güzel A, Özgül RK, Marshall JD, Naggert JK.

Hum Genet. 2012 Mar;131(3):407-13. doi: 10.1007/s00439-011-1083-9. Epub 2011 Aug 30.

41.

The progression from obesity to type 2 diabetes in Alström syndrome.

Bettini V, Maffei P, Pagano C, Romano S, Milan G, Favaretto F, Marshall JD, Paisey R, Scolari F, Greggio NA, Tosetto I, Naggert JK, Sicolo N, Vettor R.

Pediatr Diabetes. 2012 Feb;13(1):59-67. doi: 10.1111/j.1399-5448.2011.00789.x. Epub 2011 Jul 3.

42.

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.

Boldt K, Mans DA, Won J, van Reeuwijk J, Vogt A, Kinkl N, Letteboer SJ, Hicks WL, Hurd RE, Naggert JK, Texier Y, den Hollander AI, Koenekoop RK, Bennett J, Cremers FP, Gloeckner CJ, Nishina PM, Roepman R, Ueffing M.

J Clin Invest. 2011 Jun;121(6):2169-80. doi: 10.1172/JCI45627. Epub 2011 May 23.

43.

ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis.

Zulato E, Favaretto F, Veronese C, Campanaro S, Marshall JD, Romano S, Cabrelle A, Collin GB, Zavan B, Belloni AS, Rampazzo E, Naggert JK, Abatangelo G, Sicolo N, Maffei P, Milan G, Vettor R.

PLoS One. 2011 Apr 26;6(4):e19081. doi: 10.1371/journal.pone.0019081.

44.

An ENU-induced mutation in the Mertk gene (Mertknmf12) leads to a slow form of retinal degeneration.

Maddox DM, Hicks WL, Vollrath D, LaVail MM, Naggert JK, Nishina PM.

Invest Ophthalmol Vis Sci. 2011 Jul 1;52(7):4703-9. doi: 10.1167/iovs.10-7077.

45.

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

Pereiro I, Hoskins BE, Marshall JD, Collin GB, Naggert JK, Piñeiro-Gallego T, Oitmaa E, Katsanis N, Valverde D, Beales PL.

Eur J Hum Genet. 2011 Apr;19(4):485-8. doi: 10.1038/ejhg.2010.207. Epub 2010 Dec 15.

46.

NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.

Won J, Marín de Evsikova C, Smith RS, Hicks WL, Edwards MM, Longo-Guess C, Li T, Naggert JK, Nishina PM.

Hum Mol Genet. 2011 Feb 1;20(3):482-96. doi: 10.1093/hmg/ddq494. Epub 2010 Nov 15.

47.

Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.

Jagger D, Collin G, Kelly J, Towers E, Nevill G, Longo-Guess C, Benson J, Halsey K, Dolan D, Marshall J, Naggert J, Forge A.

Hum Mol Genet. 2011 Feb 1;20(3):466-81. doi: 10.1093/hmg/ddq493. Epub 2010 Nov 11.

48.

Mouse model resources for vision research.

Won J, Shi LY, Hicks W, Wang J, Hurd R, Naggert JK, Chang B, Nishina PM.

J Ophthalmol. 2011;2011:391384. doi: 10.1155/2011/391384. Epub 2010 Oct 31.

49.

Prefoldin 5 is required for normal sensory and neuronal development in a murine model.

Lee Y, Smith RS, Jordan W, King BL, Won J, Valpuesta JM, Naggert JK, Nishina PM.

J Biol Chem. 2011 Jan 7;286(1):726-36. doi: 10.1074/jbc.M110.177352. Epub 2010 Oct 18.

50.

Mutations of the opsin gene (Y102H and I307N) lead to light-induced degeneration of photoreceptors and constitutive activation of phototransduction in mice.

Budzynski E, Gross AK, McAlear SD, Peachey NS, Shukla M, He F, Edwards M, Won J, Hicks WL, Wensel TG, Naggert JK, Nishina PM.

J Biol Chem. 2010 May 7;285(19):14521-33. doi: 10.1074/jbc.M110.112409. Epub 2010 Mar 5.

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