1 | CLTCL1
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| Sacral agenesis: a pilot whole exome sequencing and copy number study.
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| Porsch RM, Merello E, De Marco P, Cheng G, Rodriguez L, So M, Sham PC, Tam PK, Capra V, Cherny SS, Garcia-Barcelo MM, Campbell DD.
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| BMC Med Genet 17(1):98. doi: 10.1186/s12881-016-0359-2.
2016
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2 | CLTCL1
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| A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.
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| Nahorski MS, Al-Gazali L, Hertecant J, Owen DJ, Borner GH, Chen YC, Benn CL, Carvalho OP, Shaikh SS, Phelan A, Robinson MS, Royle SJ, Woods CG.
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| Brain 138(Pt 8):2147-60. doi: 10.1093/brain/awv149. Epub 2015 Jun 11.
2015
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3 | CLTCL1, SLC2A4
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| The CHC22 clathrin-GLUT4 transport pathway contributes to skeletal muscle regeneration.
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| Hoshino S, Sakamoto K, Vassilopoulos S, Camus SM, Griffin CA, Esk C, Torres JA, Ohkoshi N, Ishii A, Tamaoka A, Funke BH, Kucherlapati R, Margeta M, Rando TA, Brodsky FM.
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| PLoS One 8(10):e77787. doi: 10.1371/journal.pone.0077787. eCollection 2013.
2013
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4 | CKAP5, CLTC, CLTCL1
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| Clathrin promotes centrosome integrity in early mitosis through stabilization of centrosomal ch-TOG.
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| Foraker AB, Camus SM, Evans TM, Majeed SR, Chen CY, Taner SB, Corrêa IR Jr, Doxsey SJ, Brodsky FM.
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| J Cell Biol 198(4):591-605. doi: 10.1083/jcb.201205116. Epub 2012 Aug 13.
2012
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5 | CLTC, CLTCL1
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| The clathrin heavy chain isoform CHC22 functions in a novel endosomal sorting step.
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| Esk C, Chen CY, Johannes L, Brodsky FM.
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| J Cell Biol 188(1):131-44. doi: 10.1083/jcb.200908057.
2010
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6 | CLTCL1
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| A role for the CHC22 clathrin heavy-chain isoform in human glucose metabolism.
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| Vassilopoulos S, Esk C, Hoshino S, Funke BH, Chen CY, Plocik AM, Wright WE, Kucherlapati R, Brodsky FM.
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| Science 324(5931):1192-6.
2009
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7 | CLTCL1, SNX5
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| Clathrin isoform CHC22, a component of neuromuscular and myotendinous junctions, binds sorting nexin 5 and has increased expression during myogenesis and muscle regeneration.
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| Towler MC, Gleeson PA, Hoshino S, Rahkila P, Manalo V, Ohkoshi N, Ordahl C, Parton RG, Brodsky FM.
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| Mol Biol Cell 15(7):3181-95. Epub 2004 May 7.
2004
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8 | CLTCL1
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| Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS : a balanced (21;22)(p12;q11) translocation.
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| Holmes SE, et al.
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| Hum Mol Genet 6 : 357-367. 1997
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9 | CLTCL1, DEL22Q11, VCF
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| Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome.
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| Sirotkin H, et al.
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| Hum Mol Genet 5 : 617-624. 1996
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10 | CLTC, CLTCL1
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| Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11.
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| Kedra D, et al.
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| Hum Mol Genet 5 : 625-631. 1996
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11 | CLTCL1, DEL22Q11
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| Cloning and characterization of a novel human clathrin heavy chain gene (CLTCL).
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| Long KR, et al.
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| Genomics 35 : 466-472. 1996
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