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Items: 1 to 20 of 33

1.
Knockout mice with pituitary malformations help identify human cases of hypopituitarism
Julian Martinez-Mayer, Michelle L. Brinkmeier, Sean P. O’Connell, Arnold Ukagwu, Marcelo A. Marti, Mirta Miras, Maria V. Forclaz, Maria G. Benzrihen, Leonard Y. M. Cheung, Sally A. Camper, Buffy S. Ellsworth, Lori T. Raetzman, Maria I. Pérez-Millán, Shannon W. Davis
Genome Med. 2024; 16: 75. Published online 2024 May 31. doi: 10.1186/s13073-024-01347-y
PMCID:
PMC11140907
AbstractArticlePDF–4.4M
2.
Genetic determinants of micronucleus formation in vivo
D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus
Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0
PMCID:
PMC10917660
AbstractArticlePDF–4.8M
3.
Detailed characterizations of cranial nerve anatomy in E14.5 mouse embryos/fetuses and their use as reference for diagnosing subtle, but potentially lethal malformations in mutants
Lukas F. Reissig, Stefan H. Geyer, Viola Winkler, Ester Preineder, Fabrice Prin, Robert Wilson, Antonella Galli, Catherine Tudor, Jaqueline K. White, Timothy J. Mohun, Wolfgang J. Weninger
Front Cell Dev Biol. 2022; 10: 1006620. Published online 2022 Nov 9. doi: 10.3389/fcell.2022.1006620
PMCID:
PMC9682249
AbstractArticlePDF–6.5M
4.
Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone
Antonia Wiegering, Renate Dildrop, Christine Vesque, Hemant Khanna, Sylvie Schneider-Maunoury, Christoph Gerhardt
Mol Biol Cell. 2021 Apr 15; 32(8): 675–689. doi: 10.1091/mbc.E20-03-0190
PMCID:
PMC8108517
AbstractArticlePDF–6.1M
5.
BraInMap elucidates the macromolecular connectivity landscape of mammalian brain
Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili
Cell Syst. Author manuscript; available in PMC 2021 Apr 22.
Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003
Correction in:
Cell Syst. 2020 Aug 26; 11(2): 208.
PMCID:
PMC7938770
AbstractArticlePDF–2.0M
6.
Dual regulation of planar polarization by secreted Wnts and Vangl2 in the developing mouse cochlea
Elvis Huarcaya Najarro, Jennifer Huang, Adrian Jacobo, Lee A. Quiruz, Nicolas Grillet, Alan G. Cheng
Development. 2020 Oct 1; 147(19): dev191981. Published online 2020 Oct 5. doi: 10.1242/dev.191981
PMCID:
PMC7561480
AbstractArticle
7.
Mouse screen reveals multiple new genes underlying mouse and human hearing loss
Neil J. Ingham, Selina A. Pearson, Valerie E. Vancollie, Victoria Rook, Morag A. Lewis, Jing Chen, Annalisa Buniello, Elisa Martelletti, Lorenzo Preite, Chi Chung Lam, Felix D. Weiss, Zӧe Powis, Pim Suwannarat, Christopher J. Lelliott, Sally J. Dawson, Jacqueline K. White, Karen P. Steel
PLoS Biol. 2019 Apr; 17(4): e3000194. Published online 2019 Apr 11. doi: 10.1371/journal.pbio.3000194
PMCID:
PMC6459510
AbstractArticlePDF–5.1M
8.
The Ciliopathy Gene Ftm/Rpgrip1l Controls Mouse Forebrain Patterning via Region-Specific Modulation of Hedgehog/Gli Signaling
Abraham Andreu-Cervera, Isabelle Anselme, Alice Karam, Christine Laclef, Martin Catala, Sylvie Schneider-Maunoury
J Neurosci. 2019 Mar 27; 39(13): 2398–2415. doi: 10.1523/JNEUROSCI.2199-18.2019
PMCID:
PMC6435827
AbstractArticlePDF–11M
9.
Ciliary gene RPGRIP1L is required for hypothalamic arcuate neuron development
Liheng Wang, Alain J. De Solis, Yossef Goffer, Kathryn E. Birkenbach, Staci E. Engle, Ross Tanis, Jacob M. Levenson, Xueting Li, Richard Rausch, Manika Purohit, Jen-Yi Lee, Jerica Tan, Maria Caterina De Rosa, Claudia A. Doege, Holly L. Aaron, Gabriela J. Martins, Jens C. Brüning, Dieter Egli, Rui Costa, Nicolas Berbari, Rudolph L. Leibel, George Stratigopoulos
JCI Insight. 2019 Feb 7; 4(3): e123337. Published online 2019 Feb 7. doi: 10.1172/jci.insight.123337
PMCID:
PMC6413800
AbstractArticlePDF–23M
10.
RPGRIP1L is required for stabilizing epidermal keratinocyte adhesion through regulating desmoglein endocytosis
Yeon Ja Choi, Christine Laclef, Ning Yang, Abraham Andreu-Cervera, Joshua Lewis, Xuming Mao, Li Li, Elizabeth R. Snedecor, Ken-Ichi Takemaru, Chuan Qin, Sylvie Schneider-Maunoury, Kenneth R. Shroyer, Yusuf A. Hannun, Peter J. Koch, Richard A. Clark, Aimee S. Payne, Andrew P. Kowalczyk, Jiang Chen
PLoS Genet. 2019 Jan; 15(1): e1007914. Published online 2019 Jan 28. doi: 10.1371/journal.pgen.1007914
PMCID:
PMC6366717
AbstractArticlePDF–4.7M
11.
Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone
Wesley R. Lewis, Katie L. Bales, Dustin Z. Revell, Mandy J. Croyle, Staci E. Engle, Cheng Jack Song, Erik B. Malarkey, Cedric R. Uytingco, Dan Shan, Patrick J. Antonellis, Tim R. Nagy, Robert A. Kesterson, Michal M. Mrug, Jeffrey R. Martens, Nicolas F. Berbari, Alecia K. Gross, Bradley K. Yoder
FASEB J. 2019 Jan; 33(1): 1440–1455. Published online 2018 Aug 22. doi: 10.1096/fj.201801149R
PMCID:
PMC6355093
AbstractArticle
12.
The role of Rpgrip1l, a component of the primary cilium, in adipocyte development and function
Jayne F. Martin Carli, Charles A. LeDuc, Yiying Zhang, George Stratigopoulos, Rudolph L. Leibel
FASEB J. 2018 Jul; 32(7): 3946–3956. Published online 2018 Feb 21. doi: 10.1096/fj.201701216R
PMCID:
PMC5998974
AbstractArticle
13.
Cell type‐specific regulation of ciliary transition zone assembly in vertebrates
Antonia Wiegering, Renate Dildrop, Lisa Kalfhues, André Spychala, Stefanie Kuschel, Johanna Maria Lier, Thomas Zobel, Stefanie Dahmen, Tristan Leu, Andreas Struchtrup, Flora Legendre, Christine Vesque, Sylvie Schneider‐Maunoury, Sophie Saunier, Ulrich Rüther, Christoph Gerhardt
EMBO J. 2018 May 15; 37(10): e97791. Published online 2018 Apr 12. doi: 10.15252/embj.201797791
PMCID:
PMC5978567
AbstractArticlePDF–2.8M
14.
The ciliary protein RPGRIP1L governs autophagy independently of its proteasome-regulating function at the ciliary base in mouse embryonic fibroblasts
Andreas Struchtrup, Antonia Wiegering, Björn Stork, Ulrich Rüther, Christoph Gerhardt
Autophagy. 2018; 14(4): 567–583. Published online 2018 Feb 21. doi: 10.1080/15548627.2018.1429874
PMCID:
PMC5959336
AbstractArticlePDF–1.6M
15.
Centrosomal protein Dzip1l binds Cby, promotes ciliary bud formation, and acts redundantly with Bromi to regulate ciliogenesis in the mouse
Chengbing Wang, Jia Li, Ken-Ichi Takemaru, Xiaogang Jiang, Guoqiang Xu, Baolin Wang
Development. 2018 Mar 15; 145(6): dev164236. doi: 10.1242/dev.164236
PMCID:
PMC5897601
AbstractArticle
16.
Placentation defects are highly prevalent in embryonic lethal mouse mutants
Vicente Perez-Garcia, Elena Fineberg, Robert Wilson, Alexander Murray, Cecilia Icoresi Mazzeo, Catherine Tudor, Arnold Sienerth, Jacqueline K. White, Elizabeth Tuck, Edward J. Ryder, Diane Gleeson, Emma Siragher, Hannah Wardle-Jones, Nicole Staudt, Neha Wali, John Collins, Stefan Geyer, Elisabeth M. Busch-Nentwich, Antonella Galli, James C. Smith, Elizabeth Robertson, David J. Adams, Wolfgang J. Weninger, Timothy Mohun, Myriam Hemberger
Nature. Author manuscript; available in PMC 2018 Sep 14.
Published in final edited form as: Nature. 2018 Mar 22; 555(7697): 463–468. Published online 2018 Mar 14. doi: 10.1038/nature26002
PMCID:
PMC5866719
AbstractArticlePDF–7.4M
17.
Hypomorphism of Fto and Rpgrip1l causes obesity in mice
George Stratigopoulos, Lisa Cole Burnett, Richard Rausch, Richard Gill, David Barth Penn, Alicja A. Skowronski, Charles A. LeDuc, Anthony J. Lanzano, Pumin Zhang, Daniel R. Storm, Dieter Egli, Rudolph L. Leibel
J Clin Invest. 2016 May 2; 126(5): 1897–1910. Published online 2016 Apr 11. doi: 10.1172/JCI85526
PMCID:
PMC4855930
AbstractArticlePDF–2.1M
18.
The transition zone protein Rpgrip1l regulates proteasomal activity at the primary cilium
Christoph Gerhardt, Johanna Maria Lier, Stephan Burmühl, Andreas Struchtrup, Kathleen Deutschmann, Maik Vetter, Tristan Leu, Sandra Reeg, Tilman Grune, Ulrich Rüther
J Cell Biol. 2015 Jul 6; 210(1): 1027–1045. doi: 10.1083/jcb.201408060
PMCID:
PMC4494006
AbstractArticlePDF–3.3M
19.
The ciliopathy gene Rpgrip1l is essential for hair follicle development
Jiang Chen, Christine Laclef, Alejandra Moncayo, Elizabeth R. Snedecor, Ning Yang, Li Li, Ken-Ichi Takemaru, Ralf Paus, Sylvie Schneider-Maunoury, Richard A Clark
J Invest Dermatol. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: J Invest Dermatol. 2015 Mar; 135(3): 701–709. Published online 2014 Nov 14. doi: 10.1038/jid.2014.483
PMCID:
PMC4340706
AbstractArticlePDF–1.5M
20.
Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice
George Stratigopoulos, Jayne F. Martin Carli, Diana R. O’Day, Liheng Wang, Charles A. LeDuc, Patricia Lanzano, Wendy K. Chung, Michael Rosenbaum, Dieter Egli, Daniel A. Doherty, Rudolph L. Leibel
Cell Metab. Author manuscript; available in PMC 2015 May 6.
Published in final edited form as: Cell Metab. 2014 May 6; 19(5): 767–779. doi: 10.1016/j.cmet.2014.04.009
PMCID:
PMC4131684
AbstractArticlePDF–1.5M

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