Zobrazeno 1 - 10
of 168
pro vyhledávání: '"Vincent R. Harley"'
Autor:
Christos Symeonides, Kristina Vacy, Sarah Thomson, Sam Tanner, Hui Kheng Chua, Shilpi Dixit, Toby Mansell, Martin O’Hely, Boris Novakovic, Julie B. Herbstman, Shuang Wang, Jia Guo, Jessalynn Chia, Nhi Thao Tran, Sang Eun Hwang, Kara Britt, Feng Chen, Tae Hwan Kim, Christopher A. Reid, Anthony El-Bitar, Gabriel B. Bernasochi, Lea M. Durham Delbridge, Vincent R. Harley, Yann W. Yap, Deborah Dewey, Chloe J. Love, David Burgner, Mimi L. K. Tang, Peter D. Sly, Richard Saffery, Jochen F. Mueller, Nicole Rinehart, Bruce Tonge, Peter Vuillermin, the BIS Investigator Group, Anne-Louise Ponsonby, Wah Chin Boon
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Abstract Male sex, early life chemical exposure and the brain aromatase enzyme have been implicated in autism spectrum disorder (ASD). In the Barwon Infant Study birth cohort (n = 1074), higher prenatal maternal bisphenol A (BPA) levels are associate
Externí odkaz:
https://doaj.org/article/61103e53974f40858070213fe5e84473
Autor:
Zhenhua Ming, Stefan Bagheri-Fam, Emily R. Frost, Janelle M. Ryan, Brittany Vining, Vincent R. Harley
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
Externí odkaz:
https://doaj.org/article/765dd9bb3f2b4d32b3f0e3d4fe2ad695
Autor:
Nayla Y. León, Thanh Nha Uyen Le, Andrew Garvie, Lee H. Wong, Stefan Bagheri-Fam, Vincent R. Harley
Publikováno v:
iScience, Vol 27, Iss 5, Pp 109629- (2024)
Summary: ATR-X (alpha thalassemia, mental retardation, X-linked) syndrome features genital and testicular abnormalities including atypical genitalia and small testes with few seminiferous tubules. Our mouse model recapitulated the testicular defects
Externí odkaz:
https://doaj.org/article/cc8b6960af0b463f8a197a663dae71ef
Autor:
Zhenhua Ming, Stefan Bagheri-Fam, Emily R. Frost, Janelle M. Ryan, Brittany Vining, Vincent R. Harley
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
SOX9 is a key transcription factor for testis determination and development. Mutations in and around the SOX9 gene contribute to Differences/Disorders of Sex Development (DSD). However, a substantial proportion of DSD patients lack a definitive genet
Externí odkaz:
https://doaj.org/article/1a57bf9b695940db94a37c9056913506
Publikováno v:
Data in Brief, Vol 42, Iss , Pp 108230- (2022)
This dataset represents genes that are dysregulated in the postnatal day 12 (P12) mouse testis when ATRX is specifically inactivated in Sertoli cells (ScAtrxKO mice). The differentially expressed genes included in the dataset may play important roles
Externí odkaz:
https://doaj.org/article/d830765696c84c9f80a99ae643470cd8
Publikováno v:
Nature Reviews Urology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43d020172ccede90ce322d5b7355d8cb
https://doi.org/10.1038/s41585-023-00754-x
https://doi.org/10.1038/s41585-023-00754-x
Autor:
Anthony D Bird, Emily R Frost, Stefan Bagheri-Fam, Brittany M Croft, Janelle M Ryan, Liang Zhao, Peter Koopman, Vincent R Harley
Publikováno v:
Endocrinology. 164
During sex determination in the mouse, fibroblast growth factor 9 signals through the fibroblast growth factor receptor 2c isoform (FGFR2c) to trigger Sertoli cell and testis development from 11.5 days post coitum (dpc). In the XX gonad, the FOXL2 an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::390d5dd0c17857a0776049bf8055dd77
https://doi.org/10.1210/endocr/bqad031
https://doi.org/10.1210/endocr/bqad031
Autor:
Arthur P. Arnold, Xuqi Chen, Michael N. Grzybowski, Janelle M. Ryan, Dale R. Sengelaub, Tara Mohanroy, V. Andree Furlan, William Grisham, Lynn Malloy, Akiko Takizawa, Carrie B. Wiese, Laurent Vergnes, Helen Skaletsky, David C. Page, Karen Reue, Vincent R. Harley, Melinda R. Dwinell, Aron M. Geurts
Publikováno v:
bioRxiv
BackgroundWe have generated a rat model similar to the Four Core Genotypes mouse model, allowing comparison of XX and XY rats with the same type of gonad. The model detects novel sex chromosome effects (XX vs. XY) that contribute to sex differences i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::559a36c2812afc8ea3d0f8c3e1815313
https://europepmc.org/articles/PMC9934672/
https://europepmc.org/articles/PMC9934672/
Autor:
Vincent R. Harley, Nayla Y León
Publikováno v:
Human Genetics. 140:1625-1634
ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a congenital condition predominantly affecting males, characterized by mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b934f730c0dbcc2f75674bfc06f8bd7
https://doi.org/10.1007/s00439-021-02361-5
https://doi.org/10.1007/s00439-021-02361-5
Autor:
Brittany Croft, Anthony D. Bird, Makoto Ono, Stefanie Eggers, Stefan Bagheri‐Fam, Janelle M. Ryan, Alejandra P. Reyes, Jocelyn van den Bergen, Anne Baxendale, Elizabeth M. Thompson, Andrew J. Kueh, Peter Stanton, Tim Thomas, Andrew H. Sinclair, Vincent R. Harley
Publikováno v:
Clinical geneticsREFERENCES.
46,XY gonadal dysgenesis (GD) is a Disorder/Difference of Sex Development (DSD) that can present with phenotypes ranging from ambiguous genitalia to complete male-to-female sex reversal. Around 50% of 46,XY DSD cases receive a molecular diagnosis. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9153c47dae766592369d34168cc59727
https://pubmed.ncbi.nlm.nih.gov/36349847
https://pubmed.ncbi.nlm.nih.gov/36349847