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Items: 1 to 20 of 92

1.

MAMLD1 (CXorf6): a new gene involved in hypospadias.

Ogata T, Laporte J, Fukami M.

Horm Res. 2009;71(5):245-52. doi: 10.1159/000208797. Epub 2009 Apr 1. Review.

2.

MAMLD1 (CXorf6): a new gene for hypospadias.

Ogata T, Wada Y, Fukami M.

Sex Dev. 2008;2(4-5):244-50. doi: 10.1159/000152040. Epub 2008 Nov 5. Review.

PMID:
18987498
3.

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.

J Biol Chem. 2008 Feb 29;283(9):5525-32. Epub 2007 Dec 27.

4.

MAMLD1 (CXorf6) is a New Gene for Hypospadias.

Ogata T, Fukami M, Wada Y.

Clin Pediatr Endocrinol. 2008;17(4):87-93. doi: 10.1297/cpe.17.87. Epub 2008 Nov 8. Review.

5.

MAMLD1 and 46,XY disorders of sex development.

Ogata T, Sano S, Nagata E, Kato F, Fukami M.

Semin Reprod Med. 2012 Oct;30(5):410-6. doi: 10.1055/s-0032-1324725. Epub 2012 Oct 8. Review.

PMID:
23044878
6.

Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydig tumor cells.

Nakamura M, Fukami M, Sugawa F, Miyado M, Nonomura K, Ogata T.

PLoS One. 2011 Apr 29;6(4):e19123. doi: 10.1371/journal.pone.0019123.

7.

Polymorphisms of MAMLD1 gene in hypospadias.

Kalfa N, Cassorla F, Audran F, Oulad Abdennabi I, Philibert P, Béroud C, Guys JM, Reynaud R, Alessandrini P, Wagner K, Bréaud J, Valla JS, Morisson Lacombe G, Daures JP, Baskin L, Fukami M, Ogata T, Sultan C.

J Pediatr Urol. 2011 Dec;7(6):585-91. doi: 10.1016/j.jpurol.2011.09.005. Epub 2011 Oct 24.

PMID:
22030455
8.

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.

Eur J Endocrinol. 2008 Oct;159(4):453-8. doi: 10.1530/EJE-08-0085. Epub 2008 Jul 17. Erratum in: Eur J Endocrinol. 2009 Sep;161(3):511. Ophir, Klein [corrected to Klein, Ophir].

9.

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.

Nat Genet. 2006 Dec;38(12):1369-71. Epub 2006 Nov 5. Erratum in: Nat Genet. 2007 Jan;39(1):131. Nordenskjöld, Agneta [added].

PMID:
17086185
10.

Mutational study of the MAMLD1-gene in hypospadias.

Chen Y, Thai HT, Lundin J, Lagerstedt-Robinson K, Zhao S, Markljung E, Nordenskjöld A.

Eur J Med Genet. 2010 May-Jun;53(3):122-6. doi: 10.1016/j.ejmg.2010.03.005. Epub 2010 Mar 25.

PMID:
20347055
11.

Mamld1 deficiency significantly reduces mRNA expression levels of multiple genes expressed in mouse fetal Leydig cells but permits normal genital and reproductive development.

Miyado M, Nakamura M, Miyado K, Morohashi K, Sano S, Nagata E, Fukami M, Ogata T.

Endocrinology. 2012 Dec;153(12):6033-40. doi: 10.1210/en.2012-1324. Epub 2012 Oct 18.

12.

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.

PLoS One. 2012;7(3):e32505. doi: 10.1371/journal.pone.0032505. Epub 2012 Mar 30.

13.

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.

Sex Dev. 2015;9(3):130-5. doi: 10.1159/000380842. Epub 2015 Mar 31.

PMID:
25833151
14.

[Single-nucleotide polymorphisms of MAMLD1 and hypospadias in Chinese].

Zhuang LK, Fu QH, Wang J, Sun J.

Zhonghua Nan Ke Xue. 2012 Aug;18(8):727-30. Chinese.

PMID:
22934520
15.

A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis.

Ruiz-Arana IL, Hübner A, Cetingdag C, Krude H, Grüters A, Fukami M, Biebermann H, Köhler B.

Sex Dev. 2015;9(2):80-5. doi: 10.1159/000371603. Epub 2015 Feb 3.

PMID:
25660412
16.

[Identification of mutations of SRD5A2 gene and SRY gene in patients with hypospadias].

Zhou L, Mei H, Liu T, Guang W.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Oct;16(5):311-4. Chinese.

PMID:
10514539
17.

Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.

Hsieh EW, Vargervik K, Slavotinek AM.

Am J Med Genet A. 2008 Sep 15;146A(18):2337-45. doi: 10.1002/ajmg.a.32368.

PMID:
18697196
18.

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.

PLoS One. 2015 Nov 16;10(11):e0142831. doi: 10.1371/journal.pone.0142831. eCollection 2015.

19.

Mutation analysis of five candidate genes in Chinese patients with hypospadias.

Wang Y, Li Q, Xu J, Liu Q, Wang W, Lin Y, Ma F, Chen T, Li S, Shen Y.

Eur J Hum Genet. 2004 Sep;12(9):706-12.

20.

Absence of Y-chromosome microdeletions in patients with isolated hypospadias.

Tateno T, Sasagawa I, Ashida J, Nakada T, Ogata T.

Fertil Steril. 2000 Aug;74(2):399-400. No abstract available.

PMID:
10927068
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