Citations for
1TMEM150A, TTC7A
Plasticity of PI4KIIIα interactions at the plasma membrane.
Chung J, Nakatsu F, Baskin JM, De Camilli P.
EMBO Rep 16(3):312-20. doi: 10.15252/embr.201439151. 2015
2GIDID, TTC7A
Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.
Woutsas S, Aytekin C, Salzer E, Conde CD, Apaydin S, Pichler H, Memaran-Dadgar N, Hosnut FO, Förster-Waldl E, Matthes S, Huber WD, Lion T, Holter W, Bilic I, Boztug K.
Blood 125(10):1674-6. doi: 10.1182/blood-2014-08-595397. No abstract available. 2015
3GIDID, TTC7A
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, Elkadri A, Dhillon S, Murchie R, Fattouh R, Huynh H, Walker JL, Wales PW, Cutz E, Kakuta Y, Dudley J, Kammermeier J, Powrie F, Shah N, Walz C, Nathrath M, Kotlarz D, Puchaka J, Krieger JR, Racek T, Kirchner T, Walters TD, Brumell JH, Griffiths AM, Rezaei N, Rashtian P, Najafi M, Monajemzadeh M, Pelsue S, McGovern DP, Uhlig HH, Schadt E, Klein C, Snapper SB, Muise AM.
Gastroenterology 146(4):1028-39. doi: 10.1053/j.gastro.2014.01.015. 2014
4GIDID, TTC7A
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.
Lemoine R, Pachlopnik-Schmid J, Farin HF, Bigorgne A, Debré M, Sepulveda F, Héritier S, Lemale J, Talbotec C, Rieux-Laucat F, Ruemmele F, Morali A, Cathebras P, Nitschke P, Bole-Feysot C, Blanche S, Brousse N, Picard C, Clevers H, Fischer A, de Saint Basile G.
J Allergy Clin Immunol 134(6):1354-1364.e6. doi: 10.1016/j.jaci.2014.07.019. 2014
5TTC7A
TTC7A mutations disrupt intestinal epithelial apicobasal polarity.
Bigorgne AE, Farin HF, Lemoine R, Mahlaoui N, Lambert N, Gil M, Schulz A, Philippet P, Schlesser P, Abrahamsen TG, Oymar K, Davies EG, Ellingsen CL, Leteurtre E, Moreau-Massart B, Berrebi D, Bole-Feysot C, Nischke P, Brousse N, Fischer A, Clevers H, de Saint Basile G.
J Clin Invest 124(1):328-37. 2014
6GIDID, TTC7A
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K, Manis J, Im H, Gallagher JE, Phanstiel DH, Euskirchen G, Lacroute P, Bettinger K, Moratto D, Weinacht K, Montin D, Gallo E, Mangili G, Porta F, Notarangelo LD, Pedretti S, Al-Herz W, Alfahdli W, Comeau AM, Traister RS, Pai SY, Carella G, Facchetti F, Nadeau KC, Snyder M, Notarangelo LD.
J Allergy Clin Immunol 132(3):656-664.e17. doi: 10.1016/j.jaci.2013.06.013. 2013
7TTC7A
The Tetratricopeptide repeat domain 7 gene is mutated in flaky skin mice: a model for psoriasis, autoimmunity, and anemia.
Helms C, Pelsue S, Cao L, Lamb E, Loffredo B, Taillon-Miller P, Herrin B, Burzenski LM, Gott B, Lyons BL, Keppler D, Shultz LD, Bowcock AM.
Exp Biol Med (Maywood) 230(9):659-67. 2005
8AARS2, ADAMTSL3, AHRR, AMIGO1, ANKFY1, ARHGAP31, ARID1A, ARID1B, ASAP1, ASB1, BACE1, BIRC6, BRPF3, C14orf118, CASKIN2, CCPG1, CD2BP2, CNOT6, COG6, CPAMD8, DCDC2, DLG3, ERBIN, ERGIC1, FAM190B, FAM63B, FBXO40, FILIP1, FSTL5, FZR1, GALNTL1, GATAD2B, GDA, GMEB2, GNPTAB, GRID1, GRIPAP1, HECTD1, HEG1, HHATL, INTU, IPO9, ISY1, KCNH3, KIAA1143, KIAA1161, KIAA1191, KIAA1217, KIAA1274, LCHN, LMBR1L, LRFN2, LRRC47, MACF1, MAP7D1, MIER2, MTA3, MYO5B, MYOF, NDFIP2, NDRG2, NELFB, NLGN4X, NLN, OGDHL, PAIP2B, PAK7, PECR, PLEKHG1, PLEKHH1, PNKD, PNMAL2, PPP1R9A, PRDM10, REXO1, RIMKLB, RNF150, SGPL1, SHROOM4, SLC39A10, SLC45A4, SRGAP2, STK36, SULF2, TBC1D24, TLE4, TMCC3, TPCN1, TRMT6, TTC7A, TTC7B, USP31, ZBTB47, ZC4H2, ZNF295, ZNF490, ZNF644, ZNF777
Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.
Hirosawa M, Nagase T, Ishikawa K, Kikuno R, Nomura N, Ohara O.
DNA Res 6(5):329-36. 1999