| Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway. | Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway.
Wu FY, Yang RM, Zhang HY, Zhan M, Tu PH, Fang Y, Zhang CX, Song SY, Dong M, Cui RJ, Liu XY, Yang L, Yan CY, Sun F, Zhang RJ, Wang Z, Liang J, Song HD, Cheng F, Zhao SX. | 08/23/2023 |
| MAMLD1 and Differences/Disorders of Sex Development: An Update. | MAMLD1 and Differences/Disorders of Sex Development: An Update.
Miyado M, Fukami M, Ogata T. | 11/12/2022 |
| The genomic profiling and MAMLD1 expression in human and canines with Cushing's disease. | The genomic profiling and MAMLD1 expression in human and canines with Cushing's disease.
Wang A, Neill SG, Newman S, Tryfonidou MA, Ioachimescu A, Rossi MR, Meij BP, Oyesiku NM., Free PMC Article | 01/29/2022 |
| [Advance in research on the role of MAMLD1 gene in disorders of sex development]. | [Advance in research on the role of MAMLD1 gene in disorders of sex development].
Gao F, Gong C, Li L. | 09/11/2021 |
| Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature. | Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature.
Li L, Su C, Fan L, Gao F, Liang X, Gong C., Free PMC Article | 07/3/2021 |
| Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome. | Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.
Aloui C, Guey S, Pipiras E, Kossorotoff M, Guéden S, Corpechot M, Bessou P, Pedespan JM, Husson M, Hervé D, Riant F, Kraemer M, Steffann J, Quenez O, Tournier-Lasserve E. | 06/12/2021 |
| Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance. | Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance.
Li L, Gao F, Fan L, Su C, Liang X, Gong C., Free PMC Article | 06/5/2021 |
| Attenuation of MAMLD1 Expression Suppresses the Growth and Migratory Properties of Gonadotroph Pituitary Adenomas. | Attenuation of MAMLD1 Expression Suppresses the Growth and Migratory Properties of Gonadotroph Pituitary Adenomas.
Qi J, Ni W. | 04/3/2021 |
| Nuclear localization of Yes associated protein 1 (YAP1)-mastermind like domain containing 1 (MAMLD1) protein is mediated by MAMLD1 and independent of YAP1-Ser127 phosphorylation. | YAP1 subgroup supratentorial ependymoma requires TEAD and nuclear factor I-mediated transcriptional programmes for tumorigenesis.
Pajtler KW, Wei Y, Okonechnikov K, Silva PBG, Vouri M, Zhang L, Brabetz S, Sieber L, Gulley M, Mauermann M, Wedig T, Mack N, Imamura Kawasawa Y, Sharma T, Zuckermann M, Andreiuolo F, Holland E, Maass K, Körkel-Qu H, Liu HK, Sahm F, Capper D, Bunt J, Richards LJ, Jones DTW, Korshunov A, Chavez L, Lichter P, Hoshino M, Pfister SM, Kool M, Li W, Kawauchi D., Free PMC Article | 01/4/2020 |
| Study provides evidence that MAMLD1 transcription is up-regulated in patients with 46,XX testicular and ovotesticular disorders of sex development. | NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M., Free PMC Article | 01/20/2018 |
| By direct sequencing of PCR products, we assessed and found mutations that occur in 220 sporadic cases of hypospadias. The mutation p.N589S (c.1766A>G) was found at a significantly higher rate among patients with hypospadias. | Association of MAMLD1 single-nucleotide polymorphisms with hypospadias in Chinese Han population.
Liu Y, Ye W, Wu M, Huang Y. | 01/6/2018 |
| occurrence of MAMDL1 gene polymorphisms, specially of c.2960C>T in 3' UTR of its exon 7 is associated with a higher risk of isolated hypospadias in Indian children, probably by lowering androgenic levels | Polymorphism of 3' UTR of MAMLD1 gene is also associated with increased risk of isolated hypospadias in Indian children: a preliminary report.
Ratan SK, Sharma A, Kapoor S, Polipalli SK, Dubey D, Mishra TK, Sinha SK, Agarwal SK. | 04/1/2017 |
| These results imply that the pathogenic events resulting from MAMLD1 mutations include splice errors. | Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias.
Igarashi M, Wada Y, Kojima Y, Miyado M, Nakamura M, Muroya K, Mizuno K, Hayashi Y, Nonomura K, Kohri K, Ogata T, Fukami M. | 07/16/2016 |
| MAMLD1 sequence variations may not suffice to explain the phenotype in carriers and MAMLD1 may also have a role in adult life | Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.
Camats N, Fernández-Cancio M, Audí L, Mullis PE, Moreno F, González Casado I, López-Siguero JP, Corripio R, Bermúdez de la Vega JA, Blanco JA, Flück CE., Free PMC Article | 06/28/2016 |
| The single-nucleotide polymorphisms of MAMLD1 bear no obvious correlation with hypospadias, and MAMLD1 is not a candidate gene in its pathogenesis in the Chinese population. | [Single-nucleotide polymorphisms of MAMLD1 and hypospadias in Chinese].
Zhuang LK, Fu QH, Wang J, Sun J. | 04/27/2013 |
| MAMLD1 mutations cause 46,XY disorders of sex development primarily because of compromised testosterone production around critical period for sex development; in addition, SNP in MAMLD1 may constitute a susceptibility factor for hypospadia. [REVIEW] | MAMLD1 and 46,XY disorders of sex development.
Ogata T, Sano S, Nagata E, Kato F, Fukami M. | 03/16/2013 |
| Data suggest that MAMLD1 should be routinely sequenced in 46,XY disorders of sex development (DSD) patients with otherwise normal AR, SRD5A2 and NR5A1 genes. | Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.
Kalfa N, Fukami M, Philibert P, Audran F, Pienkowski C, Weill J, Pinto G, Manouvrier S, Polak M, Ogata T, Sultan C., Free PMC Article | 09/1/2012 |
| mutational analysis of the MAMLD1-gene in hypospadias | Mutational study of the MAMLD1-gene in hypospadias.
Chen Y, Thai HT, Lundin J, Lagerstedt-Robinson K, Zhao S, Markljung E, Nordenskjöld A, Chen Y, Thai HT, Lundin J, Lagerstedt-Robinson K, Zhao S, Markljung E, Nordenskjöld A. | 10/23/2010 |
| The identification and genomic characterization of the F18 (MAMLD1) gene in human | Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.
Laporte J, Kioschis P, Hu LJ, Kretz C, Carlsson B, Poustka A, Mandel JL, Dahl N. | 09/7/2010 |
| Deletion of the F18 (MAMLD1) and MTM1 genes in two patients with congenital myopathy and hypospadias | Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.
Hu LJ, Laporte J, Kress W, Kioschis P, Siebenhaar R, Poustka A, Fardeau M, Metzenberg A, Janssen EA, Thomas N, Mandel JL, Dahl N. | 07/28/2010 |
| MAMLD1 mutations cause hypospadias primarily because of compromised testosterone production around the critical period of sex development, and provide useful information for the molecular network involved in fetal testosterone production.[review] | MAMLD1 (CXorf6): a new gene involved in hypospadias.
Ogata T, Laporte J, Fukami M. | 01/21/2010 |
| CXorf6 mutations are associated with isolated hypospadias of varying severity | Mutations of CXorf6 are associated with a range of severities of hypospadias.
Kalfa N, Liu B, Klein O, Audran F, Wang MH, Mei C, Sultan C, Baskin LS, Kalfa N, Liu B, Klein O, Audran F, Wang MH, Mei C, Sultan C, Baskin LS. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesMutational study of the MAMLD1-gene in hypospadias.
Chen Y, Thai HT, Lundin J, Lagerstedt-Robinson K, Zhao S, Markljung E, Nordenskjöld A, Chen Y, Thai HT, Lundin J, Lagerstedt-Robinson K, Zhao S, Markljung E, Nordenskjöld A. Mutations of CXorf6 are associated with a range of severities of hypospadias.
Kalfa N, Liu B, Klein O, Audran F, Wang MH, Mei C, Sultan C, Baskin LS, Kalfa N, Liu B, Klein O, Audran F, Wang MH, Mei C, Sultan C, Baskin LS. | 07/30/2008 |
| CXorf6 transactivates the Hes3 promoter, augments testosterone production | Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence.
Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K, Laporte J, Kitagawa M, Ogata T. | 01/21/2010 |
| identified three different nonsense mutations of CXorf6 in individuals with hypospadias | CXorf6 is a causative gene for hypospadias.
Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T, Nordenskjöld A, Camerino G, Kretz C, Buj-Bello A, Laporte J, Yamada G, Morohashi K, Ogata T. | 01/21/2010 |