The N-terminal domain of the Schaaf–Yang syndrome protein MAGEL2 likely has a role in RNA metabolism

Name: Work Video:
Duration: 3 min 30 s
Matthea R. Sanderson; Richard P. Fahlman; Rachel Wevrick
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3397, 3998, 4002, 4055, 4074, 4122, 4125, 4199, 4240, 4268, 4324], 'encodes': [1, 251, 501, 4269], 'the': [2, 6, 46, 50, 54, 76, 80, 161, 200, 211, 226, 252, 256, 296, 300, 304, 326, 330, 411, 450, 461, 476, 502, 506, 514, 554, 577, 583, 593, 671, 682, 909, 973, 978, 984, 988, 1168, 1192, 1248, 1253, 1289, 1335, 1338, 1351, 1499, 1760, 2184, 2271, 2384, 2615, 2710, 2797, 2906, 3105, 3132, 3160, 3196, 3201, 3206, 3212, 3217, 3347, 3368, 3379, 3384, 3399, 3405, 3495, 3675, 3777, 3926, 3935, 3969, 3994, 4000, 4032, 4035, 4044, 4052, 4071, 4099, 4149, 4159, 4181, 4211, 4248, 4279, 4294], 'L2': [3, 253, 503], 'member': [4, 254, 504], 'of': [5, 15, 49, 79, 164, 197, 203, 214, 228, 255, 265, 299, 329, 414, 447, 453, 464, 478, 505, 559, 579, 596, 623, 651, 676, 684, 720, 726, 762, 911, 951, 972, 987, 1011, 1194, 1223, 1311, 1337, 1341, 1350, 1487, 1498, 1553, 1593, 1649, 1731, 1817, 1918, 1970, 2186, 2268, 2274, 2392, 2462, 2514, 2617, 2749, 2792, 2851, 2859, 2863, 2977, 3029, 3100, 3190, 3205, 3216, 3349, 3378, 3404, 3422, 3466, 3472, 3494, 3772, 3781, 3799, 3824, 3831, 3923, 3971, 3997, 4037, 4047, 4054, 4057, 4073, 4110, 4148, 4180, 4239, 4272, 4297], 'melanoma-associated': [7, 257, 507], 'antigen': [8, 258, 508], 'gene': [9, 259, 509, 1157, 1502, 2069, 2564, 2795, 3103, 3129, 3498, 3633, 3679, 3828, 3886, 4126, 4200, 4325], '(MAGE)': [10, 260, 510], 'protein': [11, 68, 72, 82, 261, 318, 322, 332, 511, 533, 549, 646, 767, 869, 914, 975, 989, 1016, 1118, 1292, 3220, 3307, 3352, 4003, 4136, 4271], 'family,': [12, 262], 'truncating': [13, 263], 'mutations': [14, 140, 144, 242, 264, 390, 394, 492, 1347, 1612, 1696, 1730, 2791, 2937, 3052, 3099, 3170, 3418], 'which': [16, 32, 266, 282], 'can': [17, 267], 'cause': [18, 268, 1355, 1552, 1699, 1733, 3059], 'Schaaf-Yang': [19, 269, 729, 952, 1754, 1919, 1966, 2117, 2179, 2275, 2350, 2463, 2510, 2610, 2675, 2754, 2978, 3025, 3154, 3475], 'syndrome,': [20, 31, 270, 281, 1399, 1703, 3833], 'an': [21, 271, 2704, 4076], 'autism': [22, 272, 1877], 'spectrum': [23, 273, 1878, 1917, 2461, 2976], 'disorder.': [24, 274], 'is': [26, 103, 276, 353, 872, 1121, 1324, 1359, 1549, 2367, 3130, 3310, 3363, 4107], 'also': [27, 277, 680, 3382, 3391], 'inactivated': [28, 278], 'in': [29, 99, 145, 152, 169, 220, 224, 279, 349, 395, 402, 419, 470, 474, 582, 722, 874, 946, 1123, 1198, 1294, 1319, 1333, 1348, 1361, 1416, 1485, 1547, 1559, 1597, 1680, 1697, 1819, 1851, 1853, 1872, 2011, 2013, 2270, 2281, 2339, 2341, 2390, 2407, 2409, 2664, 2666, 2703, 2760, 2910, 2940, 3053, 3074, 3131, 3171, 3181, 3312, 3367, 3375, 3383, 3389, 3398, 3468, 3500, 3554, 3595, 3671, 3702, 3742, 3769, 3776, 3808, 3837, 3879, 3888, 3930, 3955, 3990, 4005, 4021, 4031, 4039, 4060, 4086, 4164, 4244], 'Prader–Willi': [30, 280, 3137], 'overlaps': [33, 283], 'clinically': [34, 284, 4062], 'and': [35, 64, 120, 173, 182, 195, 223, 247, 285, 314, 370, 423, 432, 445, 473, 497, 535, 556, 563, 673, 679, 691, 728, 766, 804, 871, 941, 948, 1015, 1053, 1120, 1158, 1165, 1252, 1321, 1332, 1400, 1420, 1483, 1495, 1557, 1617, 1677, 1736, 1753, 1780, 1827, 1880, 2060, 2085, 2121, 2144, 2178, 2203, 2240, 2351, 2376, 2555, 2609, 2676, 2700, 2853, 2908, 3063, 3153, 3178, 3209, 3214, 3242, 3309, 3370, 3381, 3402, 3407, 3411, 3426, 3439, 3474, 3552, 3562, 3592, 3668, 3802, 3876, 3891, 3963, 3973, 4011, 4080, 4089, 4112, 4167, 4201, 4208, 4237, 4247, 4326], 'mechanistically': [36, 286], 'with': [37, 60, 193, 244, 287, 310, 443, 494, 1247, 1468, 1770, 1774, 1856, 1986, 1992, 1995, 2016, 2067, 2116, 2284, 2369, 2383, 2412, 2562, 2753, 2912, 2933, 3136, 4082, 4102, 4278], 'Schaaf–Yang': [38, 245, 288, 495], 'syndrome.': [39, 289], 'Studies': [40, 290, 3388], 'to': [41, 66, 105, 110, 125, 142, 160, 291, 316, 355, 360, 375, 392, 410, 565, 592, 865, 1114, 1167, 1464, 1653, 1823, 2378, 3058, 3145, 3186, 3195, 3199, 3210, 3303, 3371, 3504, 3806, 3966, 3992, 4015, 4041, 4064, 4130, 4170, 4177, 4210, 4284, 4293], 'date': [42, 292], 'have': [43, 217, 293, 467, 966, 1988, 3419, 4065], 'only': [44, 294, 968], 'investigated': [45, 295], 'C-terminal': [47, 297, 3995], 'portion': [48, 78, 163, 298, 328, 413, 986, 1340, 3996], 'protein,': [52, 302], 'containing': [53, 303, 4137], 'MAGE': [55, 147, 305, 397, 517, 523, 532, 546, 594, 616, 624, 1243, 1353, 3172, 4140, 4295], 'homology': [56, 306, 524, 4141], 'domain': [57, 307, 525, 4079, 4142], 'that': [58, 70, 90, 102, 138, 190, 210, 308, 320, 340, 352, 388, 440, 460, 571, 976, 4070, 4084, 4157, 4266], 'interacts': [59, 309], 'RING-E3': [61, 311], 'ubiquitin': [62, 312, 561, 597, 653, 1671, 4298], 'ligases': [63, 313, 562], 'deubiquitinases': [65, 315], 'form': [67, 111, 317, 361, 566], 'complexes': [69, 319, 570, 647], 'modify': [71, 321], 'ubiquitination.': [73, 323], 'In': [74, 324, 3984], 'contrast,': [75, 325], 'N-terminal': [77, 162, 212, 327, 412, 462, 985, 1339], 'has': [83, 92, 333, 342, 3067], 'never': [84, 334], 'been': [85, 335, 1990, 3068], 'studied.': [86, 336], 'Here,': [87, 337], 'we': [88, 338, 3987], 'find': [89, 339], 'a': [93, 218, 343, 468, 521, 649, 723, 862, 875, 969, 1111, 1124, 1186, 1308, 1314, 1550, 1560, 2282, 2285, 2342, 2370, 2667, 2794, 3045, 3071, 3075, 3102, 3140, 3300, 3313, 3372, 3393, 3469, 3593, 3706, 3826, 3885, 4132, 4138, 4242, 4270], 'low-complexity': [94, 344], 'intrinsically': [95, 345, 4077], 'disordered': [96, 346, 4078], 'N-terminus': [97, 347, 4072], 'rich': [98, 348], 'Pro-Xn-Gly': [100, 350], 'motifs': [101, 351], 'predicted': [104, 354, 3057, 4129, 4150], 'mediate': [106, 356], 'liquid–liquid': [107, 357], 'phase': [108, 358], 'separation': [109, 359], 'biomolecular': [112, 362], 'condensates.': [113, 363], 'We': [114, 136, 188, 208, 364, 386, 438, 458, 4025], 'used': [115, 365], 'proximity-dependent': [116, 366, 4007], 'biotin': [117, 367, 4008], 'identification': [118, 368, 4009], '(BioID)': [119, 369, 4010], 'liquid': [121, 371, 4016], 'chromatography–tandem': [122, 372, 4017], 'mass': [123, 373, 3553, 4018], 'spectrometry': [124, 374, 4019], 'identify': [126, 376], 'MAGEL2-proximal': [127, 377], 'proteins,': [128, 378, 518], 'then': [129, 379], 'clustered': [130, 380], 'these': [131, 150, 381, 400], 'proteins': [132, 148, 181, 382, 398, 431, 547, 685, 802, 1051, 1197, 1244, 3173, 3191, 3240, 3989, 4038, 4083], 'into': [133, 239, 383, 489, 620], 'functional': [134, 384, 964], 'networks.': [135, 385], 'determined': [137, 387], 'coding': [139, 389], 'analogous': [141, 391], 'disruptive': [143, 393], 'other': [146, 396, 516, 692, 3376], 'alter': [149, 399, 4034], 'networks': [151, 401], 'biologically': [153, 403], 'relevant': [154, 404], 'ways.': [155, 405], 'Proteins': [156, 406], 'identified': [157, 407, 3988], 'as': [158, 408, 573, 861, 1110, 2346, 2671, 3299], 'proximal': [159, 409], 'are': [166, 416, 944, 1162, 2381, 2800, 2931, 3055, 3108, 4205, 4330], 'primarily': [167, 417], 'involved': [168, 418, 3887], 'mRNA': [170, 176, 420, 426, 4087], 'metabolic': [171, 421], 'processes': [172, 422], 'include': [174, 424], 'three': [175, 425], 'N': [177, 427], '6-methyladenosine': [178, 428], '(m6A)-binding': [179, 429], 'YTHDF': [180, 430], 'two': [183, 433, 2750], 'RNA': [184, 221, 434, 471, 3061, 3066], 'interference-mediating': [185, 435], 'TNRC6': [186, 436], 'proteins.': [187, 437, 4123], 'found': [189, 439, 2389], 'YTHDF2': [191, 204, 441, 454], 'coimmunoprecipitates': [192, 442], 'MAGEL2,': [194, 444, 2793, 3101, 4042, 4111], 'coexpression': [196, 446], 'reduces': [199, 449], 'nuclear': [201, 451], 'accumulation': [202, 452], 'after': [205, 455, 1860, 2020, 2416], 'heat': [206, 456], 'shock.': [207, 457], 'suggest': [209, 459, 4241], 'region': [213, 463, 3134, 4174, 4184], 'may': [216, 466, 3174, 4117], 'role': [219, 469, 1287, 1316, 1331, 1336, 2267, 3395, 4243], 'metabolism': [222, 472, 4088], 'particular': [225, 475, 1334], 'regulation': [227, 477, 3798], 'mRNAs': [229, 479], 'modified': [230, 480], 'by': [231, 481, 718, 769, 1018, 1675, 1874, 2757, 2857, 3464, 3557], 'm6A': [232, 482], 'methylation.': [233, 483], 'These': [234, 484, 4093], 'results': [235, 485, 3499, 4094], 'provide': [236, 486], 'mechanistic': [237, 487], 'insight': [238, 488], 'pathogenic': [240, 490], 'associated': [243, 493, 2368, 2382, 2932, 3135, 4101], 'syndrome': [246, 496, 801, 1050, 1188, 1291, 1363, 1423, 1467, 1501, 1752, 1821, 1967, 2118, 2137, 2199, 2253, 2511, 2699, 2707, 2755, 3026, 3138, 3152, 3239, 3556, 3708, 3744, 3890, 4246], 'related': [248, 498], 'disorders.': [249, 499], 'family.': [512], 'Like': [513], '34': [515], 'contains': [520, 977, 4075, 4153], 'conserved': [522, 4139], '(MHD)': [526], '(1Weon': [527], 'J.L.': [528], 'Potts': [529, 587, 643, 759, 1008, 1492, 1667, 4288], 'P.R.': [530, 588, 644, 760, 1009, 1493, 1668, 4289], 'The': [531, 799, 1048, 1154, 2266, 3127, 3237, 3631, 4124, 4145, 4197, 4322], 'family': [534, 595, 650, 4296], 'cancer.Curr.': [536], 'Opin.': [537], 'Cell': [538], 'Biol.': [539, 600, 1257, 4301], '2015;': [540, 880, 1129, 1682, 2808, 3116, 3318, 3786, 3894], '37:': [541], '1-8Crossref': [542], 'PubMed': [543, 604, 630, 664, 736, 779, 820, 888, 919, 958, 1028, 1069, 1137, 1176, 1206, 1231, 1267, 1302, 1409, 1477, 1508, 1570, 1605, 1660, 1685, 1742, 1766, 1833, 1866, 1932, 1980, 2026, 2077, 2131, 2194, 2247, 2295, 2358, 2422, 2476, 2524, 2572, 2625, 2683, 2719, 2767, 2816, 2870, 2922, 2991, 3039, 3124, 3166, 3258, 3326, 3357, 3482, 3512, 3570, 3605, 3643, 3690, 3715, 3753, 3789, 3814, 3842, 3902, 3944, 3979, 4219, 4258, 4305], 'Google': [544, 607, 633, 667, 739, 782, 823, 891, 922, 961, 1031, 1072, 1140, 1177, 1209, 1234, 1270, 1305, 1412, 1480, 1511, 1573, 1608, 1663, 1688, 1745, 1767, 1836, 1869, 1935, 1983, 2029, 2080, 2134, 2195, 2250, 2298, 2361, 2425, 2479, 2527, 2575, 2626, 2686, 2722, 2770, 2817, 2873, 2925, 2994, 3042, 3125, 3167, 3261, 3329, 3360, 3485, 3515, 3573, 3608, 3646, 3691, 3718, 3756, 3790, 3817, 3845, 3905, 3947, 3982, 4220, 4259, 4308], 'Scholar).': [545, 668, 962, 1306, 1689, 1768, 1984, 2362, 2926, 3043, 3126, 3168, 3361, 3983, 4260], 'regulate': [548, 806, 1055, 3211, 3244], 'ubiquitination,': [550], 'through': [551, 812, 1061, 3250], 'interactions': [552, 3177], 'between': [553, 2349, 2674], 'MHD': [555, 981, 4033, 4280], 'variable': [557], 'domains': [558], 'E3': [560, 568, 652, 1226], 'deubiquitinases,': [564], 'MAGE-RING': [567, 645], 'ligase': [569, 1672], 'serve': [572], 'multifunctional': [574], 'hubs': [575], 'for': [576, 687, 1288, 1317, 2062, 2557, 2802, 2861, 3110, 3396, 3597, 3674, 3829, 3883, 3934, 4051], 'modification': [578], 'key': [580], 'substrates': [581], 'cell': [584, 809, 1058, 3202, 3247], '(2Lee': [585, 4286], 'A.K.': [586, 1786, 4287], 'A': [589, 905, 1848, 2008, 2363, 2404, 3343, 3919, 4290], 'comprehensive': [590, 4291], 'guide': [591, 4292], 'ligases.J.': [598, 4299], 'Mol.': [599, 731, 815, 1064, 1171, 1297, 3253, 3477, 3507, 3748, 3784, 3939, 4214, 4253, 4300], '2017;': [601, 817, 1066, 1505, 1567, 1929, 2355, 2473, 2680, 2988, 3255, 3602, 4302], '429:': [602, 4303], '1114-1142Crossref': [603, 4304], 'Scopus': [605, 631, 665, 737, 780, 821, 889, 920, 959, 1029, 1070, 1138, 1207, 1232, 1268, 1303, 1410, 1478, 1509, 1571, 1606, 1661, 1686, 1743, 1834, 1867, 1933, 1981, 2027, 2078, 2132, 2248, 2296, 2359, 2423, 2477, 2525, 2573, 2684, 2720, 2768, 2871, 2923, 2992, 3040, 3259, 3327, 3358, 3483, 3513, 3571, 3606, 3644, 3716, 3754, 3815, 3843, 3903, 3945, 3980, 4306], '(0)': [606, 921, 1304, 1572, 1868, 2028, 2360, 2424, 2685, 3359, 3572, 3755, 3946, 3981, 4307], 'Scholar,': [608, 634, 740, 783, 824, 892, 923, 1032, 1073, 1141, 1178, 1210, 1235, 1271, 1512, 1574, 1664, 1746, 1837, 1936, 2426, 2480, 2528, 2576, 2627, 2687, 2723, 2771, 2818, 2874, 2995, 3262, 3330, 3486, 3516, 3574, 3609, 3647, 3692, 3719, 3757, 3791, 3818, 3846, 3906, 3948, 4221, 4309], '3Feng': [609], 'Y.': [610, 1524, 1622, 1728, 1805, 1845, 1847, 1898, 1963, 2005, 2007, 2037, 2043, 2047, 2053, 2093, 2214, 2401, 2403, 2442, 2507, 2532, 2538, 2542, 2548, 2878, 2880, 2886, 2892, 2957, 3022, 3534, 3536, 3538], 'Gao': [611, 637], 'J.': [612, 638, 640, 706, 796, 935, 1045, 1180, 1404, 1504, 1516, 1788, 1799, 1890, 1938, 1954, 1973, 2057, 2124, 2161, 2167, 2288, 2314, 2326, 2434, 2482, 2498, 2517, 2552, 2592, 2598, 2639, 2651, 2713, 2735, 2777, 2789, 2805, 2890, 2949, 2997, 3013, 3032, 3085, 3097, 3113, 3234, 3452, 3582, 3681], 'Yang': [613, 641, 1368, 1727, 1897, 2441, 2899, 2956], 'M.': [614, 642, 752, 896, 933, 1001, 1151, 1439, 1528, 1530, 1540, 1542, 1803, 1944, 2097, 2173, 2217, 2320, 2324, 2488, 2604, 2645, 2649, 2691, 2727, 2731, 2737, 2741, 2888, 3003, 3334, 3530, 3656, 3721, 3866, 4194, 4319], 'When': [615], 'meets': [617], 'RING:': [618], 'Insights': [619], 'biological': [621], 'functions': [622, 1497], 'proteins.Protein': [625], 'Cell.': [626, 655, 879, 1128, 3317], '2011;': [627, 1203, 3811], '2:': [628], '7-12Crossref': [629], '(41)': [632], '4Doyle': [635], 'J.M.': [636, 700, 744, 902, 993, 1450, 1520, 3340, 3446, 3488, 3653], 'Wang': [639, 1621, 2042, 2537, 2877], 'comprise': [648], 'ligases.Mol.': [654], '2010;': [656, 3941], '39:': [657, 3641], '963-974Abstract': [658], 'Full': [659, 661, 774, 776, 883, 885, 1023, 1025, 1132, 1134, 1262, 1264, 2811, 2813, 3119, 3121, 3321, 3323, 3897, 3899], 'Text': [660, 662, 775, 777, 884, 886, 1024, 1026, 1133, 1135, 1263, 1265, 2812, 2814, 3120, 3122, 3322, 3324, 3898, 3900], 'PDF': [663, 778, 887, 1027, 1136, 1266, 2815, 3123, 3325, 3901], '(281)': [666], 'regulates': [670, 681, 3635], 'vesicular': [672], 'endosomal': [674, 868, 1117, 3306], 'trafficking': [675, 768, 1017], 'membrane-bound': [677], 'receptors': [678], 'stability': [683, 3215], 'important': [686], 'nuclear-cytoplasmic': [688], 'trafficking,': [689], 'cilia,': [690], 'cellular': [693, 1330, 4090], 'activities': [694, 1193], '(5Kamaludin': [695, 3441], 'A.A.': [696, 1281, 3442, 3793], 'Smolarchuk': [697, 3443], 'C.': [698, 845, 1094, 1389, 1579, 1587, 1626, 1795, 2153, 2318, 2584, 2643, 2884, 3283, 3444, 3694, 3854], 'Bischof': [699, 901, 3339, 3445, 3652], 'Eggert': [701, 3447], 'R.': [702, 714, 798, 857, 904, 927, 1047, 1106, 1184, 1285, 1447, 1722, 1961, 2147, 2171, 2304, 2505, 2578, 2602, 2629, 2693, 2729, 2747, 3020, 3236, 3295, 3342, 3448, 3460, 3492, 3520, 3524, 3617, 3660, 3698, 3765, 3795, 3822, 3912, 3950, 4235], 'Greer': [703, 3449], 'J.J.': [704, 708, 1809, 3450, 3454], 'Ren': [705, 3451], 'Lee': [707, 3453], 'Yokota': [709, 3455], 'T.': [710, 1630, 1952, 2089, 2095, 2101, 2113, 2496, 2745, 2882, 3011, 3456, 3728], 'Berry': [711, 3457], 'F.B.': [712, 3458], 'Wevrick': [713, 797, 903, 1046, 1183, 1284, 3235, 3341, 3459, 3491, 3616, 3659, 3697, 3764, 3794, 3821, 4234], 'Muscle': [715, 3461], 'dysfunction': [716, 1882, 2087, 3462], 'caused': [717, 3463], 'loss': [719, 3465, 4109], 'Magel2': [721, 3417, 3467, 3497, 3585, 3634, 3937], 'mouse': [724, 1160, 3470, 3496, 3779, 3931, 4203, 4328], 'model': [725, 3471, 3780], 'Prader-Willi': [727, 800, 1049, 1169, 1187, 1290, 1500, 1734, 1751, 1820, 2798, 3106, 3151, 3238, 3473, 3505, 3555, 3707, 3743, 3782, 3832, 3889, 3956, 4212, 4245], 'syndromes.Hum.': [730, 3476], 'Genet.': [732, 816, 1065, 1172, 1298, 1566, 1601, 1738, 1975, 2126, 2190, 2243, 2290, 2519, 2621, 2715, 2807, 3034, 3115, 3254, 3478, 3508, 3639, 3683, 3686, 3749, 3785, 3940, 4215, 4254], '2016;': [733, 1406, 1474, 1763, 3163, 3479, 3712], '25:': [734, 3480], '3798-3809Crossref': [735, 3481], '(8)': [738, 3484], '6Hao': [741], 'Y.H.': [742, 826, 991, 1075, 1620, 3264], 'Doyle': [743, 992], 'Ramanathan': [745, 994], 'S.': [746, 995, 1273, 1381, 1455, 1534, 2045, 2099, 2159, 2175, 2310, 2322, 2540, 2590, 2606, 2635, 2647, 3518, 3528, 3619, 3852, 4223, 4225], 'Gomez': [747, 996], 'T.S.': [748, 997], 'Jia': [749, 998], 'D.': [750, 790, 999, 1039, 1379, 1577, 1638, 1948, 2492, 2773, 2785, 2902, 3007, 3081, 3093, 3228, 3737, 3862], 'Xu': [751, 1000, 2885], 'Chen': [753, 1002, 3579], 'Z.J.': [754, 1003], 'Billadeau': [755, 1004], 'D.D.': [756, 1005], 'Rosen': [757, 1006], 'M.K.': [758, 1007], 'Regulation': [761, 1010], 'WASH-dependent': [763, 867, 1012, 1116, 3305], 'actin': [764, 1013], 'polymerization': [765, 1014], 'ubiquitination.Cell.': [770, 1019], '2013;': [771, 1020, 1739], '152:': [772, 1021, 3812], '1051-1064Abstract': [773, 1022], '(136)': [781, 1030], '7Wijesuriya': [784, 1033], 'T.M.': [785, 855, 1034, 1104, 3223, 3293], 'De': [786, 1035, 1690, 3224], 'Ceuninck': [787, 1036, 3225], 'L.': [788, 1037, 1445, 1712, 1807, 1904, 2055, 2212, 2233, 2255, 2316, 2332, 2448, 2550, 2641, 2657, 2846, 2894, 2963, 3226, 4227], 'Masschaele': [789, 1038, 3227], 'Sanderson': [791, 899, 1040, 3229, 3337], 'M.R.': [792, 900, 1041, 3230, 3338], 'Carias': [793, 1042, 3231], 'K.V.': [794, 894, 1043, 3232, 3332], 'Tavernier': [795, 1044, 3233], 'necdin': [805, 1054, 1293, 3243], 'leptin': [807, 1056, 3207, 3245, 3770], 'receptor': [808, 1057, 3208, 3246], 'surface': [810, 1059, 3203, 3248], 'abundance': [811, 1060, 3249], 'ubiquitination': [813, 910, 1062, 3213, 3251, 3348], 'pathways.Hum.': [814, 1063, 3252], '26:': [818, 1067, 3256], '4215-4230Crossref': [819, 1068, 3257], '(5)': [822, 960, 1071, 1835, 2721, 2924, 3260], '8Hao': [825, 1074, 3263], 'Fountain': [827, 1076, 3265], 'Jr.,': [828, 1077, 3266], 'M.D.': [829, 1078, 1748, 1884, 2428, 2943, 3148, 3267, 3576], 'Fon': [830, 1079, 3268], 'Tacer': [831, 1080, 1789, 3269], 'K.': [832, 1081, 1214, 1216, 1218, 1237, 1241, 1365, 1383, 1624, 1950, 2111, 2494, 3009, 3270, 3761], 'Xia': [833, 1082, 1709, 1895, 2439, 2954, 3271], 'F.': [834, 929, 1083, 1147, 1153, 1710, 1896, 2163, 2231, 2440, 2594, 2775, 2781, 2955, 3083, 3089, 3272, 3850, 3858, 3868, 3908, 3910, 3918, 4190, 4196, 4315, 4321], 'Bi': [835, 1084, 3273], 'W.': [836, 1085, 1843, 2003, 2035, 2049, 2399, 2530, 2544, 2876, 2896, 3274], 'Kang': [837, 1086, 3275], 'S.H.': [838, 1087, 1640, 3276], 'Patel': [839, 1088, 3277], 'A.': [840, 898, 937, 1089, 1373, 1443, 1522, 1532, 1797, 1907, 1976, 2105, 2127, 2219, 2260, 2291, 2451, 2520, 2689, 2733, 2739, 2743, 2787, 2842, 2966, 3035, 3095, 3278, 3336, 3522, 3526, 3532, 3914], 'Rosenfeld': [841, 1090, 3279], 'J.A.': [842, 1091, 3280], 'Le': [843, 1092, 3281], 'Caignec': [844, 1093, 3282], 'Isidor': [846, 1095, 3284], 'B.': [847, 1096, 1277, 1375, 1716, 1839, 1946, 1999, 2225, 2330, 2395, 2490, 2655, 3005, 3285], 'Krantz': [848, 1097, 3286], 'I.D.': [849, 1098, 3287], 'Noon': [850, 1099, 3288], 'S.E.': [851, 1100, 2820, 3289], 'Pfotenhauer': [852, 1101, 3290], 'J.P.': [853, 1102, 3291], 'Morgan': [854, 1103, 3292], 'Moran': [856, 1105, 3294], 'et': [858, 1107, 1394, 1459, 1543, 1815, 1914, 2176, 2333, 2458, 2607, 2658, 2849, 2973, 3296, 3547], 'al.USP7': [859, 1108, 3297], 'acts': [860, 1109, 3298], 'molecular': [863, 1112, 3301], 'rheostat': [864, 1113, 3302], 'promote': [866, 1115, 1613, 1654, 3200, 3304], 'recycling': [870, 1119, 3189, 3308], 'mutated': [873, 1122, 1360, 3311], 'human': [876, 949, 1125, 1155, 3076, 3314, 4023, 4198, 4267, 4323], 'neurodevelopmental': [877, 1126, 2864, 2913, 3141, 3315], 'disorder.Mol.': [878, 1127, 3316], '59:': [881, 1130, 3319], '956-969Abstract': [882, 1131, 3320], '(90)': [890, 1139, 3328], '9Carias': [893, 3331], 'Zoeteman': [895, 3333], 'Seewald': [897, 3335], 'MAGEL2-deubiquitinase': [906, 3344], 'complex': [907, 1462, 3345], 'modulates': [908, 1191, 3346, 3549], 'circadian': [912, 1195, 3218, 3350, 3637, 3676], 'rhythm': [913, 1196, 3219, 3351, 3677], 'CRY1.PLoS': [915, 3353], 'One.': [916, 1228, 3354, 3839], '2020;': [917, 1658, 1831, 1863, 2023, 2244, 2419, 3355, 3976], '15e0230874Crossref': [918, 3356], '10Crutcher': [924], 'E.': [925, 1371, 1581, 1583, 1886, 1942, 1959, 2430, 2486, 2503, 2945, 3001, 3018, 3726, 3732], 'Pal': [926], 'Naini': [928], 'Zhang': [930, 1715, 1804, 2048, 2543, 2893], 'P.': [931, 1911, 2455, 2970, 3723, 3916], 'Laugsch': [932], 'Kim': [934], 'Bajic': [936], 'Schaaf': [938, 1749, 1964, 2508, 2694, 3023, 3149, 3539, 3583], 'C.P.': [939, 1706, 1750, 1965, 2509, 2695, 3024, 3150, 3540, 3584], 'mTOR': [940], 'autophagy': [942, 1652, 1674], 'pathways': [943], 'dysregulated': [945], 'murine': [947, 4250], 'models': [950], 'syndrome.Sci.': [953], 'Rep.': [954, 2354, 2679, 2918], '2019;': [955, 2074, 2569, 3567], '9:': [956, 1204, 4256], '15935Crossref': [957], 'However,': [963], 'studies': [965, 3962], 'assessed': [967], 'truncated': [970], 'version': [971], 'C-terminally': [979], 'located': [980, 2938], 'but': [982], 'not': [983, 3056, 4162], '(6Hao': [990], '11Boccaccio': [1142, 4310], 'I.': [1143, 1212, 1538, 2103, 2208, 2210, 2783, 2836, 3091, 3546, 3730, 3759, 4186, 4311], 'Glatt-Deeley': [1144, 4187, 4312], 'H.': [1145, 1239, 1377, 1387, 1391, 1632, 1642, 1784, 1913, 2308, 2457, 2633, 2779, 2972, 3087, 3578, 3848, 4188, 4313], 'Watrin': [1146, 3909, 4189, 4314], 'Roeckel': [1148, 4191, 4316], 'N.': [1149, 1634, 2091, 2107, 2109, 2169, 2312, 2600, 2637, 3735, 4192, 4317], 'Lalande': [1150, 4193, 4318], 'Muscatelli': [1152, 3867, 3917, 4195, 4320], 'its': [1159, 1329, 3184, 4202, 4327], 'homologue': [1161, 4204, 4329], 'paternally': [1163, 1693, 3415, 4206], 'expressed': [1164, 3366, 4207], 'mapped': [1166, 4209], 'region.Hum.': [1170, 4213], '1999;': [1173, 4216], '8:': [1174, 2920, 4217], '2497-2505Crossref': [1175, 4218], '12Devos': [1179], 'Weselake': [1181], 'S.V.': [1182, 3611], 'Magel2,': [1185, 3705, 3825, 3884], 'candidate': [1189, 3709, 3827], 'gene,': [1190, 3048], 'cultured': [1199, 4022], 'cells.J.': [1200], 'Circadian': [1201], 'Rhythms.': [1202], '12Crossref': [1205], '(12)': [1208], '13Gur': [1211], 'Fujiwara': [1213], 'Hasegawa': [1215], 'Yoshikawa': [1217, 1240], 'Necdin': [1219], 'promotes': [1220], 'ubiquitin-dependent': [1221], 'degradation': [1222], 'PIAS1': [1224], 'SUMO': [1225], 'ligase.PLoS': [1227], '2014;': [1229, 1602, 2868], '9e99503Crossref': [1230], '(11)': [1233], '14Kuwako': [1236], 'Taniura': [1238], 'Necdin-related': [1242], 'differentially': [1245], 'interact': [1246], 'E2F1': [1249], 'transcription': [1250], 'factor': [1251], 'p75': [1254], 'neurotrophin': [1255], 'receptor.J.': [1256], 'Chem.': [1258], '2004;': [1259], '279:': [1260], '1703-1712Abstract': [1261], '(84)': [1269, 3904], '15Lee': [1272], 'Walker': [1274], 'C.L.': [1275, 3490, 3630, 4233], 'Karten': [1276], 'Kuny': [1278], 'S.L.': [1279], 'Tennese': [1280], "O'Neill": [1282], 'M.A.': [1283, 1720, 1892, 2436, 2951], 'Essential': [1286], 'axonal': [1295], 'outgrowth.Hum.': [1296], '2005;': [1299], '14:': [1300], '627-637Crossref': [1301], 'Despite': [1307], 'growing': [1309], 'body': [1310, 3432], 'evidence': [1312], 'supporting': [1313], 'critical': [1315, 3394], 'development': [1320, 3401], 'physiology,': [1322], 'there': [1323, 4106], 'still': [1325], 'little': [1326], 'known': [1327], 'about': [1328], 'MAGEL2.': [1342], 'Missense,': [1343], 'frameshift,': [1344], 'or': [1345, 1692, 2300, 3050, 3999, 4120], 'nonsense': [1346, 2337, 2662], 'six': [1349], '35': [1352], 'genes': [1354], 'genetic': [1356, 1595], 'disorders:': [1357], 'MAGED2': [1358, 1401], 'Bartter': [1362], '(16Laghmani': [1364], 'Beck': [1366], 'B.B.': [1367], 'S.S.': [1369], 'Seaayfan': [1370], 'Wenzel': [1372], 'Reusch': [1374], 'Vitzthum': [1376], 'Priem': [1378], 'Demaretz': [1380], 'Bergmann': [1382], 'Duin': [1384], 'L.K.': [1385, 2824], 'Gobel': [1386], 'Mache': [1388], 'Thiele': [1390], 'Bartram': [1392], 'M.P.': [1393, 1429, 3615], 'al.Polyhydramnios,': [1395], 'transient': [1396], 'Antenatal': [1397], "Bartter's": [1398], 'mutations.N.': [1402], 'Engl.': [1403], 'Med.': [1405, 1600, 1928, 1974, 2125, 2189, 2289, 2472, 2518, 2620, 2714, 2867, 2987, 3033, 3682], '374:': [1407], '1853-1863Crossref': [1408], '(76)': [1411], 'Scholar),': [1413, 1481, 1609, 1870, 2030, 2081, 2135, 2196, 2251, 2299], 'NSMCE3': [1414], '(MAGEG1)': [1415], 'lung': [1417, 1470], 'disease,': [1418], 'immunodeficiency,': [1419], 'chromosome': [1421, 1465], 'breakage': [1422, 1466], '(17van': [1424], 'der': [1425], 'Crabben': [1426], 'S.N.': [1427], 'Hennus': [1428], 'McGregor': [1430], 'G.A.': [1431], 'Ritter': [1432], 'D.I.': [1433], 'Nagamani': [1434], 'S.C.': [1435], 'Wells': [1436], 'O.S.': [1437], 'Harakalova': [1438], 'Chinn': [1440], 'I.K.': [1441], 'Alt': [1442], 'Vondrova': [1444], 'Hochstenbach': [1446], 'van': [1448, 1453, 1456, 1905, 2263, 2449, 2964, 3654], 'Montfrans': [1449], 'Terheggen-Lagro': [1451], 'S.W.': [1452], 'Lieshout': [1454], 'Roosmalen': [1457], 'M.J.': [1458], 'al.Destabilized': [1460], 'SMC5/6': [1461], 'leads': [1463, 1822], 'severe': [1469, 1857, 1993, 2017, 2379, 2413, 2803, 3111], 'disease.J.': [1471], 'Clin.': [1472], 'Invest.': [1473], '126:': [1475], '2881-2892Crossref': [1476], '(40)': [1479], 'MAGEA9': [1482], 'MAGEB4': [1484, 1548], 'cases': [1486], 'male': [1488, 1598], 'infertility': [1489], '(18Tacer': [1490], 'K.F.': [1491, 1790], 'Cellular': [1494], 'disease': [1496], 'MAGEL2.Biochem.': [1503], '474:': [1506], '2177-2190Crossref': [1507], '(3)': [1510, 2297], '19Okutman': [1513], 'O.': [1514, 1628], 'Muller': [1515], 'Skory': [1517], 'V.': [1518, 1526, 1536, 2157, 2588, 3544, 3856], 'Garnier': [1519], 'Gaucherot': [1521], 'Baert': [1523], 'Lamour': [1525], 'Serdarogullari': [1527], 'Gultomruk': [1529], 'Ropke': [1531], 'Kliesch': [1533], 'Herbepin': [1535], 'Aknin': [1537], 'Benkhalifa': [1539], 'Teletin': [1541], 'al.A': [1544, 2334, 2659], 'no-stop': [1545], 'mutation': [1546, 2338, 2373, 2663, 2759], 'possible': [1551], 'rare': [1554], 'X-linked': [1555], 'azoospermia': [1556], 'oligozoospermia': [1558], 'consanguineous': [1561], 'Turkish': [1562], 'family.J.': [1563], 'Assist.': [1564], 'Reprod.': [1565], '34:': [1568, 3568], '683-694Crossref': [1569], '20Lo': [1575], 'Giacco': [1576], 'Chianese': [1578], 'Ars': [1580], 'Ruiz-Castane': [1582], 'Forti': [1584], 'G.': [1585, 2227, 2229, 2258, 2840, 3860], 'Krausz': [1586], 'Recurrent': [1588], 'X': [1589], 'chromosome-linked': [1590], 'deletions:': [1591], 'Discovery': [1592], 'new': [1594, 1922, 2466, 2981], 'factors': [1596], 'infertility.J.': [1599], '51:': [1603], '340-344Crossref': [1604], '(29)': [1607], 'while': [1610], 'MAGEA6': [1611, 1650], 'pancreatic': [1614, 1655], 'cancer': [1615, 1656], 'initiation': [1616], 'progression': [1618], '(21Tsang': [1619], 'Kong': [1623], 'Grzeskowiak': [1625], 'Zagorodna': [1627], 'Dogruluk': [1629], 'Lu': [1631, 2879], 'Villafane': [1633], 'Bhavana': [1635], 'V.H.': [1636], 'Moreno': [1637], 'Elsea': [1639], 'Liang': [1641], 'Mills': [1643], 'G.B.': [1644], 'Scott': [1645, 1947, 2491, 3006], 'K.L.': [1646], 'Differential': [1647, 2237], 'expression': [1648, 3204], 'toggles': [1651], 'progression.Elife.': [1657], '9e48963Crossref': [1659], '(4)': [1662, 2249, 3717], '22Pineda': [1665], 'C.T.': [1666, 1726], 'Oncogenic': [1669], 'MAGEA-TRIM28': [1670], 'downregulates': [1673], 'ubiquitinating': [1676], 'degrading': [1678], 'AMPK': [1679], 'cancer.Autophagy.': [1681], '11:': [1683], '844-846Crossref': [1684], '(42)': [1687], 'novo': [1691, 2336, 2661], 'inherited': [1694, 3416], 'protein-truncating': [1695, 2936], 'MAGEL2-related': [1700, 2187, 2618], 'disorders': [1701], '(Schaaf–Yang': [1702], 'SYS)': [1704], '(23Schaaf': [1705], 'Gonzalez-Garay': [1707], 'M.L.': [1708], 'Potocki': [1711, 1903, 2447, 2962], 'Gripp': [1713], 'K.W.': [1714], 'Peters': [1717], 'B.A.': [1718, 2844], 'McElwain': [1719], 'Drmanac': [1721], 'Beaudet': [1723], 'A.L.': [1724], 'Caskey': [1725], 'Truncating': [1729, 2790, 3098], 'phenotypes': [1735, 2380, 2930, 3420, 3591, 3954, 4100], 'autism.Nat.': [1737], '45:': [1740], '1405-1408Crossref': [1741], '(160)': [1744], '24Fountain': [1747], 'syndrome:': [1755, 1920, 2236, 2276, 2464, 2979, 3155, 3957], 'Neurodevelopmental': [1756, 3156], 'diseases': [1757, 3157], 'intersecting': [1758, 3158], 'at': [1759, 3070, 3159, 4158], 'gene.Diseases.': [1762, 3162], '4:': [1764, 3164], '2Crossref': [1765, 3165], 'Infants': [1769], 'SYS': [1771, 1987, 2929, 3146], 'typically': [1772], 'present': [1773, 4163], 'developmental': [1775], 'delay,': [1776], 'feeding': [1777, 2202, 3928], 'problems,': [1778], 'hypotonia,': [1779], 'joint': [1781], 'contractures': [1782], '(25Chen': [1783], 'Victor': [1785], 'Klein': [1787], 'Tai': [1791], 'D.J.': [1792, 2149, 2580], 'de': [1793, 2335, 2660], 'Esch': [1794], 'Nuttle': [1796], 'Temirov': [1798], 'Burnett': [1800], 'L.C.': [1801], 'Rosenbaum': [1802], 'Ding': [1806, 2889], 'Moresco': [1808], 'Diedrich': [1810], 'J.K.': [1811], 'Yates': [1812], '3rd,': [1813], 'J.R.': [1814], 'al.Loss': [1816], 'decreased': [1824], 'secretory': [1825], 'granule': [1826], 'neuropeptide': [1828], 'production.JCI': [1829], 'Insight.': [1830], '5e138576Crossref': [1832], '26Xiao': [1838], 'Ji': [1840, 2000, 2396], 'X.': [1841, 2001, 2041, 2051, 2397, 2536, 2546, 2898], 'Wei': [1842, 2002, 2052, 2398, 2547], 'Hui': [1844, 2004, 2400], 'Sun': [1846, 2006, 2402], 'recurrent': [1849, 2009, 2031, 2064, 2405, 2559], 'variant': [1850, 2010, 2406], 'five': [1854, 2014, 2410], 'siblings': [1855, 2015, 2411], 'respiratory': [1858, 1996, 2018, 2204, 2414], 'disturbance': [1859, 2019, 2415], 'birth.Mol.': [1861, 2021, 2417], 'Syndromol.': [1862, 2022, 2418], '10:': [1864, 2024, 2420], '286-290Crossref': [1865, 2025, 2421], 'followed': [1871], 'childhood': [1873], 'intellectual': [1875, 2140], 'disability,': [1876, 2141], 'disorder,': [1879], 'endocrine': [1881, 2086, 3408, 3434, 3800], '(27Fountain': [1883, 2942], 'Aten': [1885, 2429, 2944], 'Cho': [1887, 2431, 2946], 'M.T.': [1888, 2432, 2947], 'Juusola': [1889, 2433, 2948], 'Walkiewicz': [1891, 2435, 2950], 'Ray': [1893, 2437, 2952], 'J.W.': [1894, 2438, 2953, 3613], 'Graham': [1899, 2443, 2958], 'B.H.': [1900, 2444, 2959], 'Bacino': [1901, 2445, 2960], 'C.A.': [1902, 1909, 2446, 2453, 2961, 2968, 3580], 'Haeringen': [1906, 2450, 2965], 'Ruivenkamp': [1908, 2452, 2967], 'Mancias': [1910, 2454, 2969], 'Northrup': [1912, 2456, 2971], 'al.The': [1915, 2459, 2974], 'phenotypic': [1916, 2460, 2711, 2975], '18': [1921, 2465, 2980], 'affected': [1923, 2467, 2982, 4115], 'individuals': [1924, 2468, 2983, 4061, 4116], 'from': [1925, 2469, 2984, 3192, 3960, 4281], '14': [1926, 2470, 2985], 'families.Genet.': [1927, 2471, 2986], '19:': [1930, 2474, 2989, 3942], '45-52Crossref': [1931, 2475, 2990], '(55)': [1934, 2478, 2993], '28McCarthy': [1937, 2481, 2996], 'Lupo': [1939, 2483, 2998], 'P.J.': [1940, 2484, 2999], 'Kovar': [1941, 2485, 3000], 'Rech': [1943, 2487, 3002, 3541], 'Bostwick': [1945, 2489, 3004], 'Kraft': [1949, 2493, 3008], 'Roscioli': [1951, 2495, 3010], 'Charrow': [1953, 2497, 3012], 'Schrier': [1955, 2499, 3014], 'Vergano': [1956, 2500, 3015], 'S.A.': [1957, 2501, 3016], 'Lose': [1958, 2502, 3017], 'Smiegel': [1960, 2504, 3019], 'Lacassie': [1962, 2506, 3021], 'overview:': [1968, 2512, 3027], 'Report': [1969, 2513, 3028], '78': [1971, 2515, 3030], 'individuals.Am.': [1972, 2516, 3031], '2018;': [1977, 2128, 2191, 2292, 2521, 2622, 2716, 2764, 2919, 3036, 3750], '176:': [1978, 2129, 2293, 2522, 3037], '2564-2574Crossref': [1979, 2523, 3038], '(19)': [1982, 2526, 3041], 'Children': [1985], 'initially': [1989, 2344, 2669], 'diagnosed': [1991, 2345, 2670], 'hypotonia': [1994], 'distress': [1997], '(26Xiao': [1998, 2394], 'fetal': [2032, 2065, 2560], 'malformations': [2033, 2066, 2561], '(29Guo': [2034], 'Nie': [2036, 2531], 'Yan': [2038, 2054, 2533, 2549], 'Z.': [2039, 2534], 'Zhu': [2040, 2535], 'Guan': [2044, 2539], 'Kuo': [2046, 2541], 'Zhi': [2050, 2545], 'Qiao': [2056, 2551], 'Genetic': [2058, 2553], 'testing': [2059, 2554], 'PGD': [2061, 2556], 'unexplained': [2063, 2558, 2916], 'mutation.Sci.': [2070, 2565], 'China': [2071, 2566], 'Life': [2072, 2567], 'Sci.': [2073, 2568], '62:': [2075, 2570], '886-894Crossref': [2076, 2571], '(1)': [2079, 2574], 'arthrogryposis': [2082, 2120], 'multiplex': [2083], 'congenita,': [2084], '(30Enya': [2088], 'Okamoto': [2090], 'Iba': [2092], 'Miyazawa': [2094], 'Okada': [2096], 'Ida': [2098], 'Naruto': [2100], 'Imoto': [2102], 'Fujita': [2104], 'Miyake': [2106], 'Matsumoto': [2108], 'Sugimoto': [2110], 'Takemura': [2112], 'Three': [2114], 'patients': [2115, 2752], 'exhibiting': [2119], 'endocrinological': [2122], 'abnormalities.Am.': [2123], '707-711Crossref': [2130], '(2)': [2133], 'Chitayat–Hall': [2136], '(distal': [2138], 'arthrogryposis,': [2139], 'dysmorphic': [2142], 'features,': [2143], 'hypopituitarism)': [2145], '(31Jobling': [2146], 'Stavropoulos': [2148, 2579], 'Marshall': [2150, 2581], 'C.R.': [2151, 2582], 'Cytrynbaum': [2152, 2583], 'Axford': [2154, 2585], 'M.M.': [2155, 2265, 2586], 'Londero': [2156, 2587], 'Moalem': [2158, 2589], 'Orr': [2160, 2591], 'Rossignol': [2162, 2593], 'Lopes': [2164, 2595], 'F.D.': [2165, 2596], 'Gauthier': [2166, 2597], 'Alos': [2168, 2599], 'Rupps': [2170, 2601], 'McKinnon': [2172, 2603], 'Adam': [2174, 2605], 'al.Chitayat-Hall': [2177, 2608], 'syndromes:a': [2180, 2611], 'common': [2181, 2612], 'aetiology:': [2182, 2613], 'Expanding': [2183, 2614], 'phenotype': [2185, 2366, 2616], 'disorders.J.': [2188, 2619], '55:': [2192, 2623], '316-321Crossref': [2193, 2624], 'Crisponi/cold-induced': [2197, 2234], 'sweating': [2198, 2235], '(hyperthermia,': [2200], 'camptodactyly,': [2201], 'difficulties,': [2205], 'scoliosis)': [2206], '(32Buers': [2207], 'Persico': [2209], 'Schoning': [2211], 'Nitschke': [2213], 'Di': [2215], 'Rocco': [2216], 'Loi': [2218], 'Sahi': [2220], 'P.K.': [2221], 'Utine': [2222], 'G.E.': [2223], 'Bayraktar-Tanyeri': [2224], 'Zampino': [2226], 'Crisponi': [2228, 2232], 'Rutsch': [2230], 'diagnosis,': [2238], 'pathogenesis': [2239], 'treatment': [2241, 2909, 3873], 'concepts.Clin.': [2242], '97:': [2245, 2809, 3117], '209-221Crossref': [2246], 'hypotonia/obesity': [2252], '(33Kleinendorst': [2254], 'Pi': [2256], 'Castan': [2257], 'Caro-Llopis': [2259], 'Boon': [2261], 'E.M.J.': [2262], 'Haelst': [2264], 'obesity': [2269, 2280], 'fatal': [2272], 'outcome': [2273], 'Early': [2277], 'onset': [2278], 'morbid': [2279], 'patient': [2283, 2343, 2668], 'mutation.Am.': [2287], '2456-2459Crossref': [2294], 'Opitz': [2301], 'trigonocephaly-C': [2302], '(34Urreizti': [2303], 'Cueto-Gonzalez': [2305, 2630], 'A.M.': [2306, 2631, 2848], 'Franco-Valls': [2307, 2632], 'Mort-Farre': [2309, 2634], 'Roca-Ayats': [2311, 2636], 'Ponomarenko': [2313, 2638], 'Cozzuto': [2315, 2640], 'Company': [2317, 2642], 'Bosio': [2319, 2644], 'Ossowski': [2321, 2646], 'Montfort': [2323, 2648], 'Hecht': [2325, 2650], 'Tizzano': [2327, 2652], 'E.F.': [2328, 2653], 'Cormand': [2329, 2654], 'Vilageliu': [2331, 2656], 'Opitz-C:': [2347, 2672], 'Similarities': [2348, 2673], 'Opitz-C': [2352, 2677], 'syndromes.Sci.': [2353, 2678], '7:': [2356, 2681], '44138Crossref': [2357, 2682], 'perinatal': [2364, 3427], 'lethal': [2365, 3927], 'specific': [2371], '(c.1996delC,': [2374], 'p.Q666Sfs∗36),': [2375], 'moderate': [2377, 2928], 'reciprocal': [2385], 'mutation,': [2386], 'c.1996dupC': [2387], '(p.Q666Pfs∗47,': [2388], '40%': [2391], 'cases)': [2393], '27Fountain': [2427], '29Guo': [2529], '31Jobling': [2577], '34Urreizti': [2628], '35Bayat': [2688], 'Bayat': [2690], 'Lozoya': [2692], 'Chronic': [2696], 'intestinal': [2697], 'pseudo-obstruction': [2698], 'gastrointestinal': [2701], 'malrotation': [2702], 'infantwith': [2705], 'schaaf-yang': [2706], '-': [2708], 'expanding': [2709], 'spectrum.Eur.': [2712], '61:': [2717], '627-630Crossref': [2718], '36Matuszewska': [2724], 'K.E.': [2725], 'Badura-Stronka': [2726], 'Smigiel': [2728], 'Cabala': [2730], 'Biernacka': [2732], 'Kosinska': [2734], 'Rydzanicz': [2736], 'Winczewska-Wiktor': [2738], 'Sasiadek': [2740], 'Latos-Bielenska': [2742], 'Zemojtel': [2744], 'Ploski': [2746], 'Phenotype': [2748], 'Polish': [2751], 'confirmed': [2756], 'identifying': [2758], 'gene.Clin.': [2762], 'Dysmorphol.': [2763], '27:': [2765, 3751], '49-52Crossref': [2766], '(7)': [2769], '37Mejlachowicz': [2772], 'Nolent': [2774, 3082], 'Maluenda': [2776, 3084], 'Ranjatoelina-Randrianaivo': [2778, 3086], 'Giuliano': [2780, 3088], 'Gut': [2782, 3090], 'Sternberg': [2784, 3092], 'Laquerriere': [2786, 3094], 'Melki': [2788, 3096], 'within': [2796, 3104], 'locus,': [2799, 3107], 'responsible': [2801, 3109], 'arthrogryposis.Am.': [2804, 3112], 'Hum.': [2806, 3114], '616-620Abstract': [2810, 3118], '38Soden': [2819], 'Saunders': [2821], 'C.J.': [2822], 'Willig': [2823], 'Farrow': [2825], 'E.G.': [2826], 'Smith': [2827], 'L.D.': [2828], 'Petrikin': [2829], 'J.E.': [2830], 'LePichon': [2831], 'J.B.': [2832, 3621], 'Miller': [2833], 'N.A.': [2834], 'Thiffault': [2835], 'Dinwiddie': [2837], 'D.L.': [2838], 'Twist': [2839], 'Noll': [2841], 'Heese': [2843], 'Zellmer': [2845], 'Atherton': [2847], 'al.Effectiveness': [2850], 'exome': [2852], 'genome': [2854, 4263], 'sequencing': [2855, 2904], 'guided': [2856], 'acuity': [2858], 'illness': [2860], 'diagnosis': [2862, 2907], 'disorders.Sci.': [2865], 'Transl.': [2866], '6265ra168Crossref': [2869], '(312)': [2872], '39Tong': [2875], 'Ye': [2881], 'Song': [2883], 'Li': [2887], 'Duan': [2891], 'Gu': [2895], 'Zhao': [2897], 'X.A.': [2900], 'Jin': [2901], 'Whole-exome': [2903], 'helps': [2905], 'children': [2911], 'delay': [2914], 'accompanied': [2915], 'dyspnea.Sci.': [2917], '5214Crossref': [2921], 'More': [2927, 4261], '39': [2934], 'different': [2935], 'elsewhere': [2939], 'As': [3044], 'single': [3046, 3920], 'exon': [3047], 'stop': [3049], 'frameshift': [3051], 'nonsense-mediated': [3060], 'decay,': [3062], 'mutant': [3064, 4119], 'detected': [3069], 'low': [3072, 3436], 'level': [3073], 'fetus': [3077], 'carrying': [3078, 3414], 'p.Q666Sfs∗36': [3079], '(37Mejlachowicz': [3080], 'microdeletion': [3133], '(PWS),': [3139], 'disorder': [3142], 'phenotypically': [3143], 'similar': [3144, 3503], '(24Fountain': [3147], 'Missense': [3169], 'disrupt': [3175], 'protein–protein': [3176, 4048], 'function.': [3179], 'Mutations': [3180], 'impair': [3183], 'ability': [3185], 'facilitate': [3187], 'retromer-dependent': [3188], 'endosomes': [3193], 'back': [3194], 'trans-Golgi': [3197], 'network,': [3198], 'CRY1': [3221], '(7Wijesuriya': [3222], 'most': [3364], 'highly': [3365], 'hypothalamus': [3369], 'lesser': [3373], 'extent': [3374], 'regions': [3377], 'brain': [3380, 3663], 'developing': [3385], 'musculoskeletal': [3386], 'system.': [3387], 'mice': [3390, 3587, 3672, 3703, 3881], 'support': [3392], 'normal': [3400, 3636], 'function': [3403, 3741, 3801, 3836, 4085], 'nervous': [3406], 'systems,': [3409], 'muscle,': [3410], 'bone.': [3412], 'Mice': [3413], 'reminiscent': [3421], 'SYS,': [3423, 4113], 'including': [3424], 'pre-': [3425], 'lethality,': [3428], 'behavioral': [3429], 'abnormalities,': [3430], 'abnormal': [3431, 3669], 'composition,': [3433], 'dysfunction,': [3435], 'muscle': [3437], 'tone,': [3438], 'scoliosis': [3440], '40Bischof': [3487], 'Stewart': [3489, 3629, 4232], 'Inactivation': [3493], 'growth': [3501], 'abnormalities': [3502], 'syndrome.Hum.': [3506, 3783], '2007;': [3509, 3640], '16:': [3510, 3603], '2713-2719Crossref': [3511], '(119)': [3514], '41Baraghithy': [3517], 'Smoum': [3519], 'Drori': [3521], 'Hadar': [3523], 'Gammal': [3525], 'Hirsch': [3527], 'Attar-Namdar': [3529], 'Nemirovski': [3531], 'Gabet': [3533], 'Langer': [3535], 'Pollak': [3537], 'M.E.': [3542], 'Gross-Tsur': [3543], 'Bab': [3545], 'al.Magel2': [3548], 'bone': [3550], 'remodeling': [3551], 'affecting': [3558], 'oleoyl': [3559], 'serine': [3560], 'levels': [3561], 'activity.J.': [3563], 'Bone': [3564], 'Miner.': [3565], 'Res.': [3566], '93-105Crossref': [3569], '42Fountain': [3575], 'Tao': [3577], 'Yin': [3581], 'knockout': [3586], 'manifest': [3588], 'altered': [3589, 3665], 'social': [3590, 3598, 3875], 'deficit': [3594], 'preference': [3596], 'novelty.Genes': [3599], 'Brain': [3600], 'Behav.': [3601, 3975], '592-600Crossref': [3604], '(21)': [3607], '43Kozlov': [3610], 'Bogenpohl': [3612], 'Howell': [3614], 'Panda': [3618], 'Hogenesch': [3620], 'Muglia': [3622], 'L.J.': [3623], 'Van': [3624], 'Gelder': [3625], 'R.N.': [3626], 'Herzog': [3627], 'E.D.': [3628], 'imprinted': [3632, 3936], 'output.Nat.': [3638], '1266-1272Crossref': [3642], '(133)': [3645], '44Mercer': [3648], 'R.E.': [3649, 3820], 'Kwolek': [3650], 'E.M.': [3651], 'Eede': [3655], 'Henkelman': [3657], 'R.M.': [3658], 'Regionally': [3661], 'reduced': [3662], 'volume,': [3664], 'serotonin': [3666], 'neurochemistry,': [3667], 'behavior': [3670], 'null': [3673], 'output': [3678], 'Magel2.Am.': [3680], 'B': [3684], 'Neuropsychiatr.': [3685], '2009;': [3687, 3840], '150B:': [3688], '1085-1099Crossref': [3689], '45Luck': [3693], 'Vitaterna': [3695], 'M.H.': [3696], 'Dopamine': [3699], 'pathway': [3700, 3740], 'imbalance': [3701], 'lacking': [3704], 'gene.Behav.': [3710], 'Neurosci.': [3711], '130:': [3713], '448-459Crossref': [3714], '46Oncul': [3720], 'Dilsiz': [3722], 'Ates': [3724, 3727], 'Oz': [3725], 'Aklan': [3729], 'Celik': [3731], 'Sayar': [3733], 'Atasoy': [3734, 3736], 'Impaired': [3738, 3796], 'melanocortin': [3739], 'gene-Magel2': [3745], 'deficient': [3746, 3882, 3933], 'mice.Hum.': [3747], '3129-3136Crossref': [3752], '47Pravdivyi': [3758], 'Ballanyi': [3760], 'Colmers': [3762], 'W.F.': [3763], 'Progressive': [3766], 'postnatal': [3767, 3871, 3921], 'decline': [3768], 'sensitivity': [3771], 'arcuate': [3773], 'hypothalamic': [3774, 3797], 'neurons': [3775], 'Magel2-null': [3778, 3809], '24:': [3787], '4276-4283Crossref': [3788], '48Tennese': [3792], 'delayed': [3803], 'counterregulatory': [3804], 'response': [3805], 'hypoglycemia': [3807], 'mice.Endocrinology.': [3810], '967-978Crossref': [3813], '(24)': [3816], '49Mercer': [3819], 'Loss': [3823], 'features': [3830], 'impairs': [3834], 'reproductive': [3835], 'mice.PLoS': [3838], '4e4291Crossref': [3841], '(45)': [3844], '50Meziane': [3847], 'Schaller': [3849], 'Bauer': [3851], 'Villard': [3853], 'Matarazzo': [3855], 'Riet': [3857], 'Guillon': [3859], 'Lafitte': [3861], 'Desarmenien': [3863], 'M.G.': [3864], 'Tauber': [3865], 'An': [3869], 'early': [3870], 'oxytocin': [3872, 3924], 'prevents': [3874], 'learning': [3877], 'deficits': [3878], 'adult': [3880], 'autism.Biol.': [3892], 'Psychiatry.': [3893], '78:': [3895], '85-94Abstract': [3896], '51Schaller': [3907], 'Sturny': [3911], 'Massacrier': [3913], 'Szepetowski': [3915], 'injection': [3922], 'rescues': [3925], 'behaviour': [3929], 'newborns': [3932], 'gene.Hum.': [3938], '4895-4905Crossref': [3943], '52Wevrick': [3949], 'Disentangling': [3951], 'ingestive': [3952], 'behavior-related': [3953], 'Integrating': [3958], 'information': [3959], 'nonclinical': [3961], 'clinical': [3964], 'trials': [3965], 'better': [3967], 'understand': [3968], 'pathophysiology': [3970], 'hyperphagia': [3972], 'obesity.Physiol.': [3974], '219:': [3977], '112864Crossref': [3978], 'this': [3985, 4173], 'study,': [3986], 'proximity': [3991, 4040, 4049], 'either': [3993], 'entire': [4001], 'using': [4004], 'vivo': [4006], 'affinity': [4012], 'capture': [4013], 'coupled': [4014], '(LC-MS/MS)': [4020], 'cells.': [4024], 'examined': [4026], 'how': [4027], 'amino': [4028, 4134, 4274], 'acid': [4029, 4135, 4275], 'substitutions': [4030], 'set': [4036], 'demonstrating': [4043], 'potential': [4045], 'utility': [4046], 'mapping': [4050], 'assessment': [4053], 'variants': [4056], 'unknown': [4058], 'significance': [4059], 'suspected': [4063], 'SYS.': [4066], 'Our': [4067], 'study': [4068], 'suggests': [4069, 4265], 'associates': [4081], 'stress': [4091], 'responses.': [4092], 'could': [4095], 'shed': [4096], 'light': [4097], 'on': [4098], 'both': [4103], 'PWS,': [4104], 'where': [4105, 4114], 'complete': [4108], 'produce': [4118], 'partial': [4121], 'was': [4127, 4175], 'originally': [4128], 'encode': [4131], '529': [4133], '(MHD,': [4143], 'pfam01454).': [4144], 'DNA': [4146], 'upstream': [4147], 'start': [4151], 'codon': [4152], 'multiple': [4154], 'repeated': [4155], 'sequences': [4156], 'time': [4160], 'were': [4161, 4168], 'cDNA': [4165], 'libraries': [4166], 'refractory': [4169], 'RT-PCR,': [4171], 'so': [4172], 'assumed': [4176], 'be': [4178], 'part': [4179], '5′': [4182], 'untranslated': [4183], '(11Boccaccio': [4185], '53Lee': [4222], 'Kozlov': [4224], 'Hernandez': [4226], 'Chamberlain': [4228], 'S.J.': [4229], 'Brannan': [4230], 'C.I.': [4231], 'Expression': [4236], 'imprinting': [4238, 4251], 'homologous': [4249], 'phenotype.Hum.': [4252], '2000;': [4255], '1813-1819Crossref': [4257], 'recent': [4262], 'annotation': [4264], '1249': [4273], '(aa)': [4276], 'residues': [4277, 4282], '1027': [4283], '1195': [4285], 'paterna': [4331]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W3179761365', 'counts_by_year': [{'year': 2024, 'cited_by_count': 6}, {'year': 2023, 'cited_by_count': 1}, {'year': 2022, 'cited_by_count': 3}], 'updated_date': '2025-01-02T07:51:16.169332', 'created_date': '2021-07-19'}
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