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Items: 1 to 20 of 109

1.

A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence.

Li G, Vega R, Nelms K, Gekakis N, Goodnow C, McNamara P, Wu H, Hong NA, Glynne R.

PLoS Genet. 2007 Jan 5;3(1):e8. Epub 2006 Nov 30.

2.

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.

3.

A truncating mutation of Alms1 reduces the number of hypothalamic neuronal cilia in obese mice.

Heydet D, Chen LX, Larter CZ, Inglis C, Silverman MA, Farrell GC, Leroux MR.

Dev Neurobiol. 2013 Jan;73(1):1-13. doi: 10.1002/dneu.22031. Epub 2012 Jul 20.

4.

Fat aussie--a new Alström syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis.

Arsov T, Silva DG, O'Bryan MK, Sainsbury A, Lee NJ, Kennedy C, Manji SS, Nelms K, Liu C, Vinuesa CG, de Kretser DM, Goodnow CC, Petrovsky N.

Mol Endocrinol. 2006 Jul;20(7):1610-22. Epub 2006 Mar 2.

PMID:
16513793
5.

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.

6.

Regulation of Alström syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity.

Romano S, Milan G, Veronese C, Collin GB, Marshall JD, Centobene C, Favaretto F, Dal Pra C, Scarda A, Leandri S, Naggert JK, Maffei P, Vettor R.

Int J Mol Med. 2008 Jun;21(6):731-6.

PMID:
18506366
7.

Cilia, Alström syndrome--molecular mechanisms and therapeutic perspectives.

Mihai CM, Catrinoiu D, Marshall J, Stoicescu R, Tofolean IT.

J Med Life. 2008 Jul-Sep;1(3):254-61. Review.

PMID:
20108502
8.
9.

Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1.

Purvis TL, Hearn T, Spalluto C, Knorz VJ, Hanley KP, Sanchez-Elsner T, Hanley NA, Wilson DI.

Gene. 2010 Jul 15;460(1-2):20-9. doi: 10.1016/j.gene.2010.03.015. Epub 2010 Apr 8.

10.

Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease.

Davenport JR, Watts AJ, Roper VC, Croyle MJ, van Groen T, Wyss JM, Nagy TR, Kesterson RA, Yoder BK.

Curr Biol. 2007 Sep 18;17(18):1586-94. Epub 2007 Sep 6.

11.

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.

12.

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.

PMID:
25296579
13.

Knockdown of the Alström syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action.

Huang-Doran I, Semple RK.

Int J Obes (Lond). 2010 Oct;34(10):1554-8. doi: 10.1038/ijo.2010.92. Epub 2010 Jun 1.

PMID:
20514046
14.

Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731.

Knorz VJ, Spalluto C, Lessard M, Purvis TL, Adigun FF, Collin GB, Hanley NA, Wilson DI, Hearn T.

Mol Biol Cell. 2010 Nov 1;21(21):3617-29. doi: 10.1091/mbc.E10-03-0246. Epub 2010 Sep 15.

15.

A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus.

Friedland-Little JM, Hoffmann AD, Ocbina PJ, Peterson MA, Bosman JD, Chen Y, Cheng SY, Anderson KV, Moskowitz IP.

Hum Mol Genet. 2011 Oct 1;20(19):3725-37. doi: 10.1093/hmg/ddr241. Epub 2011 Jun 8.

16.

Cystin localizes to primary cilia via membrane microdomains and a targeting motif.

Tao B, Bu S, Yang Z, Siroky B, Kappes JC, Kispert A, Guay-Woodford LM.

J Am Soc Nephrol. 2009 Dec;20(12):2570-80. doi: 10.1681/ASN.2009020188. Epub 2009 Oct 22.

17.

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.

18.

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.

19.

Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells.

Braune K, Volkmer I, Staege MS.

PLoS One. 2017 Jan 30;12(1):e0170694. doi: 10.1371/journal.pone.0170694. eCollection 2017.

20.

Alström syndrome: current perspectives.

Álvarez-Satta M, Castro-Sánchez S, Valverde D.

Appl Clin Genet. 2015 Jul 21;8:171-9. doi: 10.2147/TACG.S56612. eCollection 2015. Review.

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