Zobrazeno 1 - 10
of 125
pro vyhledávání: '"Anu Bashamboo"'
Autor:
Somboon Wankanit, Housna Zidoune, Joëlle Bignon-Topalovic, Laurène Schlick, Denis Houzelstein, Leila Fusée, Asma Boukri, Nassim Nouri, Ken McElreavey, Anu Bashamboo, Maëva Elzaiat
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract NR2F2 encodes COUP-TFII, an orphan nuclear receptor required for the development of the steroidogenic lineages of the murine fetal testes and ovaries. Pathogenic variants in human NR2F2 are associated with testis formation in 46,XX individua
Externí odkaz:
https://doaj.org/article/77766382aaa847189fa76e3bb2fc1a8f
Autor:
Denis Houzelstein, Caroline Eozenou, Carlos F. Lagos, Maëva Elzaiat, Joelle Bignon-Topalovic, Inma Gonzalez, Vincent Laville, Laurène Schlick, Somboon Wankanit, Prochi Madon, Jyotsna Kirtane, Arundhati Athalye, Federica Buonocore, Stéphanie Bigou, Gerard S. Conway, Delphine Bohl, John C. Achermann, Anu Bashamboo, Ken McElreavey
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)
Abstract The Y-linked SRY gene initiates mammalian testis-determination. However, how the expression of SRY is regulated remains elusive. Here, we demonstrate that a conserved steroidogenic factor-1 (SF-1)/NR5A1 binding enhancer is required for appro
Externí odkaz:
https://doaj.org/article/4d468f3ebfe74e169182e3c50aa5412e
Autor:
Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Abstract Squamous cell carcinoma antigen recognized by T cells 3 (SART3) is an RNA-binding protein with numerous biological functions including recycling small nuclear RNAs to the spliceosome. Here, we identify recessive variants in SART3 in nine ind
Externí odkaz:
https://doaj.org/article/490c3c6f5efa46c79fc60769df8db9e9
Autor:
Khouloud Rjiba, Soumaya Mougou-Zerelli, Imen hadj Hamida, Ghada Saad, Bochra Khadija, Afef Jelloul, Wafa Slimani, Yosra Hasni, Sarra Dimassi, Hela Ben khelifa, Amira Sallem, Molka Kammoun, Hamza Hadj Abdallah, Moez Gribaa, Joelle Bignon-Topalovic, Sami Chelly, Hédi Khairi, Mohamed Bibi, Maha Kacem, Ali Saad, Anu Bashamboo, Kenneth McElreavey
Publikováno v:
Reproductive Biology and Endocrinology, Vol 21, Iss 1, Pp 1-13 (2023)
Abstract Background Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a
Externí odkaz:
https://doaj.org/article/886ed788882242ce929a902fe1717027
Publikováno v:
PLoS ONE, Vol 18, Iss 12 (2023)
Externí odkaz:
https://doaj.org/article/8ffa0cabd0bc474187d92b551be3a62e
Autor:
Housna Zidoune, Asmahane Ladjouze, Djalila Chellat-Rezgoune, Asma Boukri, Scheher Aman Dib, Nassim Nouri, Meryem Tebibel, Karima Sifi, Noureddine Abadi, Dalila Satta, Yasmina Benelmadani, Joelle Bignon-Topalovic, Maeva El-Zaiat-Munsch, Anu Bashamboo, Ken McElreavey
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
In a majority of individuals with disorders/differences of sex development (DSD) a genetic etiology is often elusive. However, new genes causing DSD are routinely reported and using the unbiased genomic approaches, such as whole exome sequencing (WES
Externí odkaz:
https://doaj.org/article/a30672ccbf724ddaaff9d212a96814dd
Autor:
Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/4d17ed3fcc1b46bc9b7e947038dedff7
Autor:
Yardena Tenenbaum-Rakover, Osnat Admoni, Ghadir Elias-Assad, Shira London, Marie Noufi-Barhoum, Hanna Ludar, Tal Almagor, Yoav Zehavi, Charles Sultan, Rita Bertalan, Anu Bashamboo, Kenneth McElreavey
Publikováno v:
Endocrine Connections, Vol 10, Iss 6, Pp 620-629 (2021)
Objective: Disorders of sex development (DSD) are defined as congenital co nditions in which the development of chromosomal, gonadal and anatomical sex is atypical. Despite wide laboratory and imaging investigations, the etiology of DSD is unknown in
Externí odkaz:
https://doaj.org/article/8e62f22b0df84f8b8d68bd427b01a1df
Autor:
Evgenia Globa, Natalia Zelinska, Yulia Shcherbak, Joelle Bignon-Topalovic, Anu Bashamboo, Ken MсElreavey
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundThe clinical profile and genetics of individuals with Disorders/Differences of Sex Development (DSD) has not been reported in Ukraine.Materials and MethodsWe established the Ukrainian DSD Register and identified 682 DSD patients. This cohor
Externí odkaz:
https://doaj.org/article/a046269225874ef785a0801ed84139dc
Autor:
Rahma Mkaouar, Lamia Cherif Ben Abdallah, Chokri Naouali, Saida Lahbib, Zinet Turki, Sahar Elouej, Yosra Bouyacoub, Maali Somai, Kenneth Mcelreavey, Anu Bashamboo, Sonia Abdelhak, Olfa Messaoud
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
The role of the prokineticin 2 pathway in human reproduction, olfactory bulb morphogenesis, and gonadotropin-releasing hormone secretion is well established. Recent studies have highlighted the implication of di/oligogenic inheritance in this disorde
Externí odkaz:
https://doaj.org/article/6da776bdce8e458aa2276521a5264d82