1 | TMEM150A, TTC7A
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| Plasticity of PI4KIIIα interactions at the plasma membrane.
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| Chung J, Nakatsu F, Baskin JM, De Camilli P.
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| EMBO Rep 16(3):312-20. doi: 10.15252/embr.201439151.
2015
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2 | GIDID, TTC7A
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| Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.
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| 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.
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| Blood 125(10):1674-6. doi: 10.1182/blood-2014-08-595397. No abstract available.
2015
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3 | GIDID, TTC7A
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| Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
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| 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.
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| Gastroenterology 146(4):1028-39. doi: 10.1053/j.gastro.2014.01.015.
2014
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4 | GIDID, TTC7A
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| Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.
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| 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.
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| J Allergy Clin Immunol 134(6):1354-1364.e6. doi: 10.1016/j.jaci.2014.07.019.
2014
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5 | TTC7A
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| TTC7A mutations disrupt intestinal epithelial apicobasal polarity.
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| 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.
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| J Clin Invest 124(1):328-37.
2014
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6 | GIDID, TTC7A
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| Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
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| 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.
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| J Allergy Clin Immunol 132(3):656-664.e17. doi: 10.1016/j.jaci.2013.06.013.
2013
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7 | GIDID, TTC7A
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| Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
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| Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue MA, Desjardins S, Dubois S, Le Deist F, Awadalla P, Raymond V, Maranda B.
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| J Med Genet. May;50(5):324-9. doi: 10.1136/jmedgenet-2012-101483. Epub 2013 Feb 19 2013
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8 | TTC7A
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| The Tetratricopeptide repeat domain 7 gene is mutated in flaky skin mice: a model for psoriasis, autoimmunity, and anemia.
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| 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.
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| Exp Biol Med (Maywood) 230(9):659-67.
2005
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9 | AARS2, 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, KIAA1191, KIAA1217, KIAA1274, LCHN, LMBR1L, LRFN2, LRRC47, MACF1, MAP7D1, MIER2, MTA3, MYO5B, MYOF, MYORG, 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, ZBTB21, ZBTB47, ZC4H2, ZNF490, ZNF644, ZNF777
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| Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.
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| Hirosawa M, Nagase T, Ishikawa K, Kikuno R, Nomura N, Ohara O.
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| DNA Res 6(5):329-36. 1999
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