Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Binnaz Yalcin"'
Autor:
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-in
Externí odkaz:
https://doaj.org/article/0358fc56f6054b188a138c71c996e968
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
Cohen Syndrome (CS) is a rare autosomal recessive disorder caused by biallelic mutations in the VPS13B gene. It is characterized by multiple clinical features, including acquired microcephaly, developmental delay, intellectual disability, neutropenia
Externí odkaz:
https://doaj.org/article/8347587b0389489599c9adc38d73534c
Autor:
Perrine F. Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Marie-Christine Fischer, Maxence Milhau, Ipek Yalcin, Riccardo Brambilla, Mohammed Selloum, Yann Herault, Alexandre Reymond, Stephan C. Collins, Binnaz Yalcin
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-22 (2023)
Abstract Background Using mouse genetic studies and systematic assessments of brain neuroanatomical phenotypes, we set out to identify which of the 30 genes causes brain defects at the autism-associated 16p11.2 locus. Results We show that multiple ge
Externí odkaz:
https://doaj.org/article/37637093eaea40888cb9b6562d451f96
Autor:
Charlotte Montillot, Emilia Skutunova, Ayushma, Morgane Dubied, Adam Lahmar, Sylvie Nguyen, Benazir Peerally, Fabrice Prin, Yannis Duffourd, Christel Thauvin-Robinet, Laurence Duplomb, Heng Wang, Muhammad Ansar, Laurence Faivre, Nicolas Navarro, Shilpi Minocha, Stephan C. Collins, Binnaz Yalcin
Publikováno v:
Neurobiology of Disease, Vol 185, Iss , Pp 106259- (2023)
The vacuolar protein sorting-associated protein 13B (VPS13B) is a large and highly conserved protein. Disruption of VPS13B causes the autosomal recessive Cohen syndrome, a rare disorder characterized by microcephaly and intellectual disability among
Externí odkaz:
https://doaj.org/article/f9f8187efd4345399a21f8121cc60521
Autor:
Yann Loe-Mie, Christine Plançon, Caroline Dubertret, Takeo Yoshikawa, Binnaz Yalcin, Stephan C. Collins, Anne Boland, Jean-François Deleuze, Philip Gorwood, Dalila Benmessaoud, Michel Simonneau, Aude-Marie Lepagnol-Bestel
Publikováno v:
Life, Vol 14, Iss 2, p 244 (2024)
Schizophrenia (SZ) is a heterogeneous and debilitating psychiatric disorder with a strong genetic component. To elucidate functional networks perturbed in schizophrenia, we analysed a large dataset of whole-genome studies that identified SNVs, CNVs,
Externí odkaz:
https://doaj.org/article/305e0dd0cc7c4e76aeee7a8351f14258
Publikováno v:
Algorithms, Vol 16, Iss 12, p 553 (2023)
Using a high-throughput neuroanatomical screen of histological brain sections developed in collaboration with the International Mouse Phenotyping Consortium, we previously reported a list of 198 genes whose inactivation leads to neuroanatomical pheno
Externí odkaz:
https://doaj.org/article/0f49833b45684be6abd2cbacb0a896c1
Autor:
Delfina M. Romero, Karine Poirier, Richard Belvindrah, Imane Moutkine, Anne Houllier, Anne-Gaëlle LeMoing, Florence Petit, Anne Boland, Stephan C. Collins, Mariano Soiza-Reilly, Binnaz Yalcin, Jamel Chelly, Jean-François Deleuze, Nadia Bahi-Buisson, Fiona Francis
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-19 (2022)
The Dlgap protein family members are known for their role in synapses. Here the authors reveal important involvement in earlier steps of brain development, identifying DLGAP4 mutations in patients with cortical malformations, and also demonstrating a
Externí odkaz:
https://doaj.org/article/33248227415449f4a29b5e9fea7603f4
Autor:
Amelie Baud, Francesco Paolo Casale, Amanda M. Barkley-Levenson, Nilgoun Farhadi, Charlotte Montillot, Binnaz Yalcin, Jerome Nicod, Abraham A. Palmer, Oliver Stegle
Publikováno v:
Genome Biology, Vol 22, Iss 1, Pp 1-21 (2021)
Abstract Background The phenotype of an individual can be affected not only by the individual’s own genotypes, known as direct genetic effects (DGE), but also by genotypes of interacting partners, indirect genetic effects (IGE). IGE have been detec
Externí odkaz:
https://doaj.org/article/7556fa8d104f4bc0b543092b964934c8
Autor:
Lettie E Rawlins, Hashem Almousa, Shazia Khan, Stephan C Collins, Miroslav P Milev, Joseph Leslie, Djenann Saint-Dic, Valeed Khan, Ana Maria Hincapie, Jacob O Day, Lucy McGavin, Christine Rowley, Gaurav V Harlalka, Valerie E Vancollie, Wasim Ahmad, Christopher J Lelliott, Asma Gul, Binnaz Yalcin, Andrew H Crosby, Michael Sacher, Emma L Baple
Publikováno v:
PLoS Genetics, Vol 18, Iss 3, p e1010114 (2022)
The highly evolutionarily conserved transport protein particle (TRAPP) complexes (TRAPP II and III) perform fundamental roles in subcellular trafficking pathways. Here we identified biallelic variants in TRAPPC10, a component of the TRAPP II complex,
Externí odkaz:
https://doaj.org/article/5c426a88bf9249aa9daecb2e85ea53bb
Autor:
Stephan C. Collins, Valerie E. Vancollie, Anna Mikhaleva, Christel Wagner, Rebecca Balz, Christopher J. Lelliott, Binnaz Yalcin
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 19, p 11509 (2022)
CHARGE syndrome is a rare congenital disorder frequently caused by mutations in the chromodomain helicase DNA-binding protein-7 CHD7. Here, we developed and systematically characterized two genetic mouse models with identical, heterozygous loss-of-fu
Externí odkaz:
https://doaj.org/article/be82312055b24513adaf4c26906aeec8