| 1 | ALMS1
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| Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.
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| 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.
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| Hum Mol Genet 20(3):466-81. Epub 2010 Nov 11.
2011
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| 2 | ALMS1, BCAS3, C17orf82, CEP89, DUSP11, FAAP24, GATM, MYH9, NAT8, SHROOM3, SLC22A2, SLC7A9, TBX2, TPRKB, UMOD
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| Genetic loci influencing kidney function and chronic kidney disease.
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| Chambers JC, Zhang W, Lord GM, van der Harst P, Lawlor DA, Sehmi JS, Gale DP, Wass MN, Ahmadi KR, Bakker SJ, Beckmann J, Bilo HJ, Bochud M, Brown MJ, Caulfield MJ, Connell JM, Cook HT, Cotlarciuc I, Davey Smith G, de Silva R, Deng G, Devuyst O, Dikkeschei LD, Dimkovic N, Dockrell M, Dominiczak A, Ebrahim S, Eggermann T, Farrall M, Ferrucci L, Floege J, Forouhi NG, Gansevoort RT, Han X, Hedblad B, Homan van der Heide JJ, Hepkema BG, Hernandez-Fuentes M, Hypponen E, Johnson T, de Jong PE, Kleefstra N, Lagou V, Lapsley M, Li Y, Loos RJ, Luan J, Luttropp K, Maréchal C, Melander O, Munroe PB, Nordfors L, Parsa A, Peltonen L, Penninx BW, Perucha E, Pouta A, Prokopenko I, Roderick PJ, Ruokonen A, Samani NJ, Sanna S, Schalling M, Schlessinger D, Schlieper G, Seelen MA, Shuldiner AR, Sjögren M, Smit JH, Snieder H, Soranzo N, Spector TD, Stenvinkel P, Sternberg MJ, Swaminathan R, Tanaka T, Ubink-Veltmaat LJ, Uda M, Vollenweider P, Wallace C, Waterworth D, Zerres K, Waeber G, Wareham NJ, Maxwell PH, McCarthy MI, Jarvelin MR, Mooser V, Abecasis GR, Lightstone L, Scott J, Navis G, Elliott P, Kooner JS.
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| Nat Genet 42(5):373-5. Epub 2010 Apr 11. 2010
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| 3 | ALMS1, RFX1, RFX2
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| Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1.
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| Purvis TL, Hearn T, Spalluto C, Knorz VJ, Hanley KP, Sanchez-Elsner T, Hanley NA, Wilson DI.
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| Gene 460(1-2):20-9. Epub 2010 Apr 8.PMID: 20381594 2010
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| 4 | ALMS1
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| Identification of a novel ALMS1 mutation in a Chinese family with Alström syndrome.
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| Liu L, Dong B, Chen X, Li J, Li Y.
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| Eye (Lond) 23(5):1210-2. Epub 2008 Jul 25.PMID: 18654604 2009
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| 5 | ALMS1
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| Cilia, Alström syndrome--molecular mechanisms and therapeutic perspectives.
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| Mihai CM, Catrinoiu D, Marshall J, Stoicescu R, Tofolean IT.
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| J Med Life 1(3):254-61. Review.PMID: 20108502 2008
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| 6 | ALMS1
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| Molecular analysis and long-term clinical evaluation of three siblings with Alstrom syndrome.
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| Ozgul RK, Satman I, Collin GB, Hinman EG, Marshall JD, Kocaman O, Tutuncu Y, Yilmaz T, Naggert JK.
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| Clin Genet 72(4):351-6. 2007
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| 7 | ALMS1
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| Alstršm syndrome.
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| Marshall JD, Beck S, Maffei P, Naggert JK.
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| Eur J Hum Genet 15(12):1193-202. Epub 2007 Oct 17. 2007
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| 8 | ALMS1
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| Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population.
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| Patel S, Minton JA, Weedon MN, Frayling TM, Ricketts C, Hitman GA, McCarthy MI, Hattersley AT, Walker M, Barrett TG.
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| Diabetologia 49(6):1209-13. Epub 2006 Apr 7. 2006
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| 9 | ALMS1
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| Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.
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| Minton JA, Owen KR, Ricketts CJ, Crabtree N, Shaikh G, Ehtisham S, Porter JR, Carey C, Hodge D, Paisey R, Walker M, Barrett TG.
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| J Clin Endocrinol Metab 91(8):3110-6. Epub 2006 May 23. 2006
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| 10 | ALMS1
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| Familial variable expression of dilated cardiomyopathy in Alstrom syndrome: a report of four sibs.
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| Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P.
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| Am J Med Genet A 135(1):96-8. 2005
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| 11 | ALMS1
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| Alms1-disrupted mice recapitulate human Alstrom syndrome.
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| Collin GB, Cyr E, Bronson R, Marshall JD, Gifford EJ, Hicks W, Murray SA, Zheng QY, Smith RS, Nishina PM, Naggert JK.
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| Hum Mol Genet 14(16):2323-33. Epub 2005 Jul 6. 2005
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| 12 | ALMS1
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| Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes.
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| Hearn T, Spalluto C, Phillips VJ, Renforth GL, Copin N, Hanley NA, Wilson DI.
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| Diabetes 54(5):1581-7. 2005
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| 13 | ALMS1
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| Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene.
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| Titomanlio L, De Brasi D, Buoninconti A, Sperandeo MP, Pepe A, Andria G, Sebastio G.
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| Clin Genet 65(2):156-7. No abstract available. 2004
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| 14 | ALMS1, AS, BFLS, FRAXA, MEHMO, MRXS11, MRXS7, PHP1A, PWS, WTSL1
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| Fat chance: genetic syndromes with obesity.
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| Delrue MA, Michaud J.
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| Clin Genet 66(2):83-93. 2004
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| 15 | ALMS1
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| Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome.
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| Hearn T, Renforth GL, Spalluto C, Hanley NA, Piper K, Brickwood S, White C, Connolly V, Taylor JF, Russell-Eggitt I, Bonneau D, Walker M, Wilson DI.
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| Nat Genet 31(1):79-83. 2002
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| 16 | ALMS1
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| Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome.
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| Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P, Beck S, Boerkoel CF, Sicolo N, Martin M, Nishina PM, Naggert JK.
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| Nat Genet 31(1):74-8. 2002
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| 17 | ALMS1
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| The continuing failure to recognise Alstrom syndrome and further evidence of genetic homogeneity.
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| Deeble VJ, Roberts E, Jackson A, Lench N, Karbani G, Woods CG.
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| J Med Genet 37(3):219. No abstract available. 2000
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| 18 | ALMS1, TGFA
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| TGFA : exon-intron structure and evaluation as a candidate gene for Alstršm syndrome.
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| Collin GB, et al.
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| Clin Genet 55 : 61-62. 1999
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| 19 | ALMS1
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| Alstrom syndrome: further evidence for linkage to human chromosome 2p13.
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| Collin GB, Marshall JD, Boerkoel CF, Levin AV, Weksberg R, Greenberg J, Michaud JL, Naggert JK, Nishina PM.
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| Hum Genet 105(5):474-9 1999
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| 20 | ALMS1
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| Refinement of genetic localization of the Alstrom syndrome on chromosome 2p12-13 by linkage analysis in a North African family.
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| Macari F, Lautier C, Girardet A, Dadoun F, Darmon P, Dutour A, Renard E, Bouvagnet P, Claustres M, Oliver C, Grigorescu F.
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| Hum Genet 103 : 658-661. 1998
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| 21 | ALMS1
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| Homozygosity mapping of Alstršm syndrome to chromosome 2p.
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| Collin GB, et al.
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| Hum Mol Genet 6 : 213-219. 1997
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| 22 | ADAMTS3, AKAP6, ALMS1, ANKRD28, AREL1, ARHGEF10, ARHGEF11, ARHGEF17, ARNT2, BAZ2A, CABIN1, CAST, CHD9, CIC, CLEC16A, CLOCK, CTNND1, DCLK1, DDX46, DIDO1, DNAH9, DNM3, DOCK3, DYNC1H1, ECM29, ENTPD4, EPB41L1, EZH1, FRMPD4, GCC2, HECW1, HERC2, HISPPD1, HUWE1, IGSF1, KAT6B, KHNYN, KIAA0319, KIAA0355, KIAA0379, KIF3B, KMT2B, LBA1, MADD, MAST4, MCF2L, MDN1, MTMR3, MYO6, N4BP3, NACAD, NRCAM, PCDH9, PCDHGA8, PCDHGC3, PDZD2, PER2, PFAS, PLEKHM1, PLXNB2, PRORP, PRUNE2, PTPRN2, RAPGEF2, RIMBP2, RIMS1, RIPOR2, RUSC2, SALL2, SEC16A, SEMA3C, SEMA3E, SETD1A, SFRS14, SNPH, SPECC1L, SPTBN2, SR140, SRCAP, SRRM2, SYNJ2, TECPR2, TLN2, TRIM66, TTC37, UBR2, WNK1, XPO6, ZBTB39, ZBTB5, ZFYVE16, ZFYVE26, ZMYM3, ZNF518A, ZNF609, ZNF629, ZNF646
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| Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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| Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A,Kotani H, Nomura N, Ohara O.
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| DNA Res 4(2):141-50. 1997
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