Citations for
1ABHD12, PHARC
Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations: From Syndromic to Nonsyndromic Retinal Degeneration.
Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C.
Ophthalmology 121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31. 2014
2ABHD12, PHARC
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.
Chen DH, Naydenov A, Blankman JL, Mefford HC, Davis M, Sul Y, Barloon AS, Bonkowski E, Wolff J, Matsushita M, Smith C, Cravatt BF, Mackie K, Raskind WH, Stella N, Bird TD.
Hum Mutat 34(12):1672-8. doi: 10.1002/humu.22437. Epub 2013 Oct 2. 2013
3ABHD12
ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC.
Blankman JL, Long JZ, Trauger SA, Siuzdak G, Cravatt BF.
Proc Natl Acad Sci U S A 110(4):1500-5. doi: 10.1073/pnas.1217121110. Epub 2013 Jan 7. 2013
4ABHD12, ABHD6
Biochemical and pharmacological characterization of human α/β-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12).
Navia-Paldanius D, Savinainen JR, Laitinen JT.
J Lipid Res 53(11):2413-24. doi: 10.1194/jlr.M030411. Epub 2012 Sep 11. 2012
5ABHD12, PHARC
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
Eisenberger T, Slim R, Mansour A, Nauck M, Nürnberg G, Nürnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz HJ.
Orphanet J Rare Dis 7:59. doi: 10.1186/1750-1172-7-59. 2012
6ABHD12, PHARC
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, M'zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C, Bredrup C, Assoum M, Tazir M, Klockgether T, Hamri A, Steen VM, Boman H, Bindoff LA, Koenig M, Knappskog PM.
Am J Hum Genet 87(3):410-7.PMID: 2079768 2010
7ABHD12, ABHD6, MGLL
A comprehensive profile of brain enzymes that hydrolyze the endocannabinoid 2-arachidonoylglycerol.
Blankman JL, Simon GM, Cravatt BF.
Chem Biol 14(12):1347-56.PMID: 18096503 2007
8ABHD12, ABHD12B, ABTB2, AGBL3, AMMECR1L, ANAPC15, ANKMY1, ANKRD16, ANKRD22, ANKRD29, ANKRD36, ANKRD40, ANKRD43, ANKRD44, APOPT1, ARHGAP30, ARL16, ARL17, ARL17P1, ARMC1, ATAD1, BRD9, C10orf126, C10orf132, C10orf57, C10orf58, C10orf84, C10orf85, C10orf88, C10orf90, C10orf91, C10orf92, C10orf93, C10orf95, C11orf10, C11orf36, C11orf41, C11orf42, C11orf45, C11orf46, C11orf52, C11orf53, C11orf57, C11orf58, C11orf61, C11orf63, C11orf64, C11orf66, C11orf71, C11orf72, C11orf76, C12orf23, C12orf26, C12orf28, C12orf32, C12orf33, C12orf34, C12orf36, C12orf45, C12orf48, C12orf54, C12orf60, C13orf16, C13orf26, C13orf27, C13orf28, C13orf29, C13orf30, C13orf33, C14orf109, C14orf126, C14orf128, C14orf138, C14orf148, C14orf152, C14orf177, C14orf178, C15orf26, C15orf32, C15orf33, C15orf34, C15orf40, C15orf43, C16orf58, C16orf61, C16orf74, C16orf78, C17orf44, C17orf50, C17orf54, C17orf57, C17orf58, C18orf16, C18orf18, C18orf22, C19orf18, C19orf22, C19orf23, C19orf28, C19orf30, C19orf36, C19orf48, C1orf106, C1orf109, C1orf57, C20orf103, C20orf106, C20orf108, C20orf112, C20orf144, C20orf149, C20orf165, C20orf166, C20orf194, C20orf197, C20orf39, C20orf62, C20orf79, C21orf122, C21orf128, C22orf13, C22orf27, C22orf36, C2orf24, C2orf48, C3orf14, C3orf17, C3orf18, C3orf22, C3orf24, C3orf25, C3orf26, C3orf31, C3orf32, C3orf33, C3orf36, C3orf37, C3orf38, C3orf45, C3orf46, C3orf54, C3orf62, C4orf36, C5orf23, C7orf38, C7orf45, C8orf44, C8orf45, C8orf46, C8orf74, C9orf116, C9orf70, CC2D2B, CCDC101, CCDC102A, CCDC103, CCDC117, CCDC124, CCDC37, CCDC38, CCDC46, CCDC48, CCDC58, CCDC58P1, CCDC68, CCDC70, CCDC74B, CCDC8, CCDC84, CCDC99, CFAP300, CFAP58, CFAP58, CHCHD5, CLDND2, COQ8B, COX14, CXorf21, CXorf38, CXorf42, DDRGK1, DEM1, DEXI, DIPK2A, DNAJB8, DNAJC18, DNAJC5G, DPY19L1, DPY19L3, DPY19L4, DUS1L, DUS3L, EFCAB1, EFCAB2, EFCAB3, EFCAB4B, EFHA2, EFHB, ELP6, EMC3, EMC7, EPHX4, FAM100B, FAM106A, FAM162B, FAM168A, FAM81A, FAM81B, FOPNL, HEATR3, HEATR4, HSFX2, IFT43, IL34, KANSL1, KLHL29, KLHL30, KLHL30, KLHL36, KNSTRN, LAMTOR1, LRRC20, LRRC24, LRRC34, MALSU1, MARCH9, MCU, MT1P3, NACC2, NCRNA00175, NJMUR1, NJMUR1, NKAPL, ODF3L2, OTUD7A, PID1, POMGNT2, PRIMPOL, PRR11, PRR12, RWDD2A, TANGO2, THOC6, TIMM29, TMEM101, TMEM106A, TMEM106C, TMEM107, TMEM108, TMEM109, TMEM110, TMEM116, TMEM217, TMEM229B, TMEM260, TRIM65, TTC17, TTC6, TTPAL, TUBB6, WDR72, WDR85, ZBTB45, ZBTB5, ZBTB9, ZNF385B, ZNF439, ZNF440, ZNF454, ZNF485, ZNF486, ZNF497, ZNF509, ZNF519, ZNF524, ZNF613, ZNF625, ZNF643, ZNRF3, ZSCAN1, ZSCAN23, ZSCAN5A, ZSWIM1, ZSWIM3
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J; MGC Project Team.
Genome Res 14(10B):2121-7. Erratum in: Genome Res. 2006 Jun;16(6):804. Morrin, Ryan [corrected to Morin, Ryan]. 2004