| Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. | Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls H, Martínez-Cabrera R, Prat-Planas A, Rojano E, Ranea JAG, Seoane P, Oliva C, Paredes-Fuentes AJ, Marfany G, Artuch R, Grinberg D, Rabionet R, Balcells S, Urreizti R., Free PMC Article | 10/20/2023 |
| Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome. | Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome.
Reznik DL, Yang MV, Albelda de la Haza P, Jain A, Spanjaard M, Theiss S, Schaaf CP, Malovannaya A, Strong TV, Veeraragavan S, Samaco RC., Free PMC Article | 02/14/2023 |
| Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production. | Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production.
Chen H, Victor AK, Klein J, Tacer KF, Tai DJ, de Esch C, Nuttle A, Temirov J, Burnett LC, Rosenbaum M, Zhang Y, Ding L, Moresco JJ, Diedrich JK, Yates JR 3rd, Tillman HS, Leibel RL, Talkowski ME, Billadeau DD, Reiter LT, Potts PR., Free PMC Article | 06/19/2021 |
| MAGEL2-related disorders: A study and case series. | MAGEL2-related disorders: A study and case series.
Patak J, Gilfert J, Byler M, Neerukonda V, Thiffault I, Cross L, Amudhavalli S, Pacio-Miguez M, Palomares-Bralo M, Garcia-Minaur S, Santos-Simarro F, Powis Z, Alcaraz W, Tang S, Jurgens J, Barry B, England E, Engle E, Hess J, Lebel RR., Free PMC Article | 09/5/2020 |
| We report MAGEL2 and L1CAM mutations in four pedigrees with variable Congenital hypopituitarism and arthrogryposis. Human embryonic expression analysis revealed MAGEL2 transcripts in the developing hypothalamus and ventral diencephalon at Carnegie stages (CSs) 19, 20, and 23 and in the Rathke pouch at CS20 and CS23. L1CAM was expressed in the developing hypothalamus, ventral diencephalon, and hindbrain (CS19, CS20, CS23). | Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
Gregory LC, Shah P, Sanner JRF, Arancibia M, Hurst J, Jones WD, Spoudeas H, Le Quesne Stabej P, Williams HJ, Ocaka LA, Loureiro C, Martinez-Aguayo A, Dattani MT., Free PMC Article | 06/6/2020 |
| a mutation, c.1996delC on the maternal imprinted gene MAGEL2 that was carried by the affected fetus and husband, leading to Schaaf-Yang syndrome. | Sequencing XMET genes to promote genotype-guided risk assessment and precision medicine.
Jin Y, Chen G, Xiao W, Hong H, Xu J, Guo Y, Xiao W, Shi T, Shi L, Tong W, Ning B., Free PMC Article | 04/25/2020 |
| hitayat-Hall syndrome is caused by pathogenic variants in MAGEL2 and shares a common aetiology with the recently described Schaaf-Yang syndrome. The phenotype of MAGEL2-related disorders is expanded to include growth hormone deficiency as an important and treatable complication. | Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, Nowaczyk MJM, Walker S, Scherer SW, Nassif C, Hamdan FF, Deal CL, Soucy JF, Weksberg R, Macleod P, Michaud JL, Chitayat D. | 09/28/2019 |
| the single-nucleotide polymorphism rs850807, which is putatively functional and linked with MAGEL2 and NDN Genetic variation in rs850807 was strongly and exclusively associated with the ideas of reference subscale of the schizophrenia spectrum, which is best typified as paranoia | A genetic locus for paranoia.
Crespi B, Read S, Salminen I, Hurd P., Free PMC Article | 12/22/2018 |
| Genes encoding MAGEL2 partners, either in the retrograde transport or in the ubiquitination-deubiquitination complexes, are promising candidates as Opitz trigonocephaly C syndrome -causing genes. | A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S., Free PMC Article | 11/10/2018 |
| We report on first two unrelated patients of Polish descent with Schaaf-Yang syndrome caused by de-novo intragenic mutations in the MAGEL2 gene, identified by next-generation sequencing | Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.
Matuszewska KE, Badura-Stronka M, Śmigiel R, Cabała M, Biernacka A, Kosinska J, Rydzanicz M, Winczewska-Wiktor A, Sasiadek M, Latos-Bieleńska A, Żemojtel T, Płoski R. | 09/8/2018 |
| This study provides strong evidence for the pathogenicity of truncating mutations of the paternal allele of MAGEL2, refines the associated clinical phenotypes, and highlights implications for genetic counseling for affected families | The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP., Free PMC Article | 12/9/2017 |
| A similar progressive loss of leptin sensitivity caused by loss of MAGEL2 in children with Prader-Willi syndrome could explain the delayed onset of increased appetite and weight gain in this complex disorder. | Progressive postnatal decline in leptin sensitivity of arcuate hypothalamic neurons in the Magel2-null mouse model of Prader-Willi syndrome.
Pravdivyi I, Ballanyi K, Colmers WF, Wevrick R. | 05/21/2016 |
| Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. | Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
Mejlachowicz D, Nolent F, Maluenda J, Ranjatoelina-Randrianaivo H, Giuliano F, Gut I, Sternberg D, Laquerrière A, Melki J., Free PMC Article | 01/16/2016 |
| MAGEL2 is a new gene causing complex autism spectrum disorder and MAGEL2 loss of function can contribute to several aspects of the Prader-Willi syndrome phenotype. | Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y., Free PMC Article | 01/11/2014 |
| These findings provide a cellular and molecular function for MAGE-L2-TRIM27 in retrograde transport, including an unappreciated role of K63-linked ubiquitination and identification of an activating signal of the WASH regulatory complex. | Regulation of WASH-dependent actin polymerization and protein trafficking by ubiquitination.
Hao YH, Doyle JM, Ramanathan S, Gomez TS, Jia D, Xu M, Chen ZJ, Billadeau DD, Rosen MK, Potts PR., Free PMC Article | 04/27/2013 |
| Results suggest that MAGEL2 may not play a role in the pathophysiology of schizophrenia and mood disorders in the Japanese population. | Lack of association between MAGEL2 and schizophrenia and mood disorders in the Japanese population.
Fukuo Y, Kishi T, Okochi T, Kitajima T, Tsunoka T, Okumukura T, Kinoshita Y, Kawashima K, Yamanouchi Y, Umene-Nakano W, Naitoh H, Inada T, Yoshimura R, Nakamura J, Ozaki N, Iwata N, Fukuo Y, Kishi T, Okochi T, Kitajima T, Tsunoka T, Okumukura T, Kinoshita Y, Kawashima K, Yamanouchi Y, Umene-Nakano W, Naitoh H, Inada T, Yoshimura R, Nakamura J, Ozaki N, Iwata N. | 01/15/2011 |
| MAGEL2 gene is imprinted, with preferential expression from the paternal allele. | The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.
Boccaccio I, Glatt-Deeley H, Watrin F, Roëckel N, Lalande M, Muscatelli F. | 10/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Lack of association between MAGEL2 and schizophrenia and mood disorders in the Japanese population.
Fukuo Y, Kishi T, Okochi T, Kitajima T, Tsunoka T, Okumukura T, Kinoshita Y, Kawashima K, Yamanouchi Y, Umene-Nakano W, Naitoh H, Inada T, Yoshimura R, Nakamura J, Ozaki N, Iwata N, Fukuo Y, Kishi T, Okochi T, Kitajima T, Tsunoka T, Okumukura T, Kinoshita Y, Kawashima K, Yamanouchi Y, Umene-Nakano W, Naitoh H, Inada T, Yoshimura R, Nakamura J, Ozaki N, Iwata N. | 06/30/2010 |