Alstrom syndrome (Homo sapiens)
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Description
Alström syndrome
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Bibliography
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- 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; ''Proteomic analysis of mitotic RNA polymerase II reveals novel interactors and association with proteins dysfunctional in disease.''; Mol Cell Proteomics, 2012 PubMed Europe PMC Scholia
- Uchiyama K, Jokitalo E, Kano F, Murata M, Zhang X, Canas B, Newman R, Rabouille C, Pappin D, Freemont P, Kondo H; ''VCIP135, a novel essential factor for p97/p47-mediated membrane fusion, is required for Golgi and ER assembly in vivo.''; J Cell Biol, 2002 PubMed Europe PMC Scholia
- Xie Y, Gao L, Xu C, Chu L, Wu R, Liu Y, Liu T, Sun XJ, Ren R, Tang J, Zheng Y, Zhou Y, Shen S; ''ARHGEF12 regulates erythropoiesis and is involved in erythroid regeneration after chemotherapy in acute lymphoblastic leukemia patients.''; Haematologica, 2020 PubMed Europe PMC Scholia
- Marley A, von Zastrow M; ''Dysbindin promotes the post-endocytic sorting of G protein-coupled receptors to lysosomes.''; PLoS One, 2010 PubMed Europe PMC Scholia
- Springelkamp H, Iglesias AI, Cuellar-Partida G, Amin N, Burdon KP, van Leeuwen EM, Gharahkhani P, Mishra A, van der Lee SJ, Hewitt AW, Rivadeneira F, Viswanathan AC, Wolfs RC, Martin NG, Ramdas WD, van Koolwijk LM, Pennell CE, Vingerling JR, Mountain JE, Uitterlinden AG, Hofman A, Mitchell P, Lemij HG, Wang JJ, Klaver CC, Mackey DA, Craig JE, van Duijn CM, MacGregor S; ''ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.''; Hum Mol Genet, 2015 PubMed Europe PMC Scholia
- Yamada M, Uehara T, Suzuki H, Takenouchi T, Fukushima H, Morisada N, Tominaga K, Onoda M, Kosaki K; ''IFT172 as the 19th gene causative of oral-facial-digital syndrome.''; Am J Med Genet A, 2019 PubMed Europe PMC Scholia
- Hearn T; ''ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.''; J Mol Med (Berl), 2019 PubMed Europe PMC Scholia
- Collin GB, Marshall JD, King BL, Milan G, Maffei P, Jagger DJ, Naggert JK; ''The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway.''; PLoS One, 2012 PubMed Europe PMC Scholia
- Milton A, Luoto K, Ingram L, Munro S, Logan N, Graham AL, Brummelkamp TR, Hijmans EM, Bernards R, La Thangue NB; ''A functionally distinct member of the DP family of E2F subunits.''; Oncogene, 2006 PubMed Europe PMC Scholia
- Bhogaraju S, Cajanek L, Fort C, Blisnick T, Weber K, Taschner M, Mizuno N, Lamla S, Bastin P, Nigg EA, Lorentzen E; ''Molecular basis of tubulin transport within the cilium by IFT74 and IFT81.''; Science, 2013 PubMed Europe PMC Scholia
- Gomez-Ferreria MA, Rath U, Buster DW, Chanda SK, Caldwell JS, Rines DR, Sharp DJ; ''Human Cep192 is required for mitotic centrosome and spindle assembly.''; Curr Biol, 2007 PubMed Europe PMC Scholia
- Jung B, Padula D, Burtscher I, Landerer C, Lutter D, Theis F, Messias AC, Geerlof A, Sattler M, Kremmer E, Boldt K, Ueffing M, Lickert H; ''Pitchfork and Gprasp2 Target Smoothened to the Primary Cilium for Hedgehog Pathway Activation.''; PLoS One, 2016 PubMed Europe PMC Scholia
- Monis WJ, Faundez V, Pazour GJ; ''BLOC-1 is required for selective membrane protein trafficking from endosomes to primary cilia.''; J Cell Biol, 2017 PubMed Europe PMC Scholia
- Nishijima Y, Hagiya Y, Kubo T, Takei R, Katoh Y, Nakayama K; ''RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly.''; Mol Biol Cell, 2017 PubMed Europe PMC Scholia
- O'Rourke BP, Gomez-Ferreria MA, Berk RH, Hackl AM, Nicholas MP, O'Rourke SC, Pelletier L, Sharp DJ; ''Cep192 controls the balance of centrosome and non-centrosomal microtubules during interphase.''; PLoS One, 2014 PubMed Europe PMC Scholia
- Eguether T, San Agustin JT, Keady BT, Jonassen JA, Liang Y, Francis R, Tobita K, Johnson CA, Abdelhamed ZA, Lo CW, Pazour GJ; ''IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment.''; Dev Cell, 2014 PubMed Europe PMC Scholia
- Antonny B, Burd C, De Camilli P, Chen E, Daumke O, Faelber K, Ford M, Frolov VA, Frost A, Hinshaw JE, Kirchhausen T, Kozlov MM, Lenz M, Low HH, McMahon H, Merrifield C, Pollard TD, Robinson PJ, Roux A, Schmid S; ''Membrane fission by dynamin: what we know and what we need to know.''; EMBO J, 2016 PubMed Europe PMC Scholia
- Purvis TL, Hearn T, Spalluto C, Knorz VJ, Hanley KP, Sanchez-Elsner T, Hanley NA, Wilson DI; ''Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1.''; Gene, 2010 PubMed Europe PMC Scholia
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