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