scholarly journals Effects of Monobutyl and Di(n-butyl) Phthalatein Vitroon Steroidogenesis and Leydig Cell Aggregation in Fetal Testis Explants from the Rat: Comparison with Effectsin Vivoin the Fetal Rat and Neonatal Marmoset andin Vitroin the Human

2007 ◽  
Vol 115 (3) ◽  
pp. 390-396 ◽  
Author(s):  
Nina Hallmark ◽  
Marion Walker ◽  
Chris McKinnell ◽  
I. Kim Mahood ◽  
Hayley Scott ◽  
...  
Endocrinology ◽  
2005 ◽  
Vol 146 (2) ◽  
pp. 613-623 ◽  
Author(s):  
I. Kim Mahood ◽  
Nina Hallmark ◽  
Chris McKinnell ◽  
Marion Walker ◽  
Jane S. Fisher ◽  
...  

PLoS ONE ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. e0191934 ◽  
Author(s):  
Soria Eladak ◽  
Delphine Moison ◽  
Marie-Justine Guerquin ◽  
Gabriele Matilionyte ◽  
Karen Kilcoyne ◽  
...  

2021 ◽  
pp. 1-12
Author(s):  
Mami Miyado ◽  
Maki Fukami ◽  
Tsutomu Ogata

<i>MAMLD1</i> (alias <i>CXorf6</i>) was first documented in 2006 as a causative gene of 46,XY differences/disorders of sex development (DSD). <i>MAMLD1</i>/<i>Mamld1</i> is expressed in the fetal testis and is predicted to enhance the expression of several Leydig cell-specific genes. To date, hemizygous <i>MAMLD1</i> variants have been identified in multiple 46,XY individuals with hypomasculinized external genitalia. Pathogenic <i>MAMLD1</i> variants are likely to cause genital abnormalities at birth and are possibly associated with age-dependent deterioration of testicular function. In addition, some <i>MAMLD1</i> variants have been identified in 46,XX individuals with ovarian dysfunction. However, recent studies have raised the possibility that <i>MAMLD1</i> variants cause 46,XY DSD and ovarian dysfunction as oligogenic disorders. Unsolved issues regarding MAMLD1 include the association between <i>MAMLD1</i> variants and 46,XX testicular DSD, gene-gene interactions in the development of <i>MAMLD1</i>-mediated DSD, and intracellular functions of MAMLD1.


2008 ◽  
Vol 105 (20) ◽  
pp. 7218-7222 ◽  
Author(s):  
H. Lin ◽  
R.-S. Ge ◽  
G.-R. Chen ◽  
G.-X. Hu ◽  
L. Dong ◽  
...  

2010 ◽  
Vol 82 (1) ◽  
pp. 153-162 ◽  
Author(s):  
Mai A. Sarraj ◽  
Ruth M. Escalona ◽  
Alexandra Umbers ◽  
Hui Kheng Chua ◽  
Chris Small ◽  
...  

2011 ◽  
Vol 352 (1) ◽  
pp. 14-26 ◽  
Author(s):  
Tony DeFalco ◽  
Satoru Takahashi ◽  
Blanche Capel
Keyword(s):  

PLoS ONE ◽  
2011 ◽  
Vol 6 (11) ◽  
pp. e27172 ◽  
Author(s):  
François Chauvigné ◽  
Simon Plummer ◽  
Laurianne Lesné ◽  
Jean-Pierre Cravedi ◽  
Nathalie Dejucq-Rainsford ◽  
...  

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