Results 1 to 10 of about 22,874 (232)

PAX6 disease models for aniridia

Indian Journal of Ophthalmology, 2022
Aniridia is a pan-ocular genetic developmental eye disorder characterized by complete or partial iris and foveal hypoplasia, for which there is no treatment currently.
Dorsa Abdolkarimi, Dulce Lima Cunha, Manuela Lahne, Mariya Moosajee   +3 more
doaj   +4 more sources

Dynamic Pax6 expression during the neurogenic cell cycle influences proliferation and cell fate choices of retinal progenitors

Neural Development, 2009
Background The paired homeobox protein Pax6 is essential for proliferation and pluripotency of retinal progenitors. However, temporal changes in Pax6 protein expression associated with the generation of various retinal neurons have not been characterized
Yi-Wen Hsieh, Xian-Jie Yang, Yang Xian-Jie   +2 more
exaly   +3 more sources

Pax6 regulates the expression of Dkk3 in murine and human cell lines, and altered responses to Wnt signaling are shown in FlpIn-3T3 cells stably expressing either the Pax6 or the Pax6(5a) isoform. [PDF]

PLoS ONE, 2014
Pax6 is a transcription factor important for early embryo development. It is expressed in several cancer cell lines and tumors. In glioblastoma, PAX6 has been shown to function as a tumor suppressor.
Siri Forsdahl, Yury Kiselev, Rune Hogseth, Janne E Mjelle, Ingvild Mikkola   +4 more
doaj   +3 more sources

Pax6 as a Therapeutic Target: Convergent Molecular Pathways in the Regulation of Aniridia, Neurogenesis, Neurodegeneration and Oncology [PDF]

Cells
Pax6 is a multifunctional transcription factor that orchestrates cell cycle progression at distinct stages of early embryonic neurogenesis and serves as a molecular mediator integrating multiple signaling pathways associated with pathological processes ...
Marina Skorkina, Tatiana Kovaleva, Irina Predeina, Nikita Smirnov, Irina Mukhina   +4 more
doaj   +2 more sources

Increased corneal epithelial turnover contributes to abnormal homeostasis in the Pax6(+/-) mouse model of aniridia.

PLoS ONE, 2013
We aimed to test previous predictions that limbal epithelial stem cells (LESCs) are quantitatively deficient or qualitatively defective in Pax6(+/-) mice and decline with age in wild-type (WT) mice.
Panagiotis Douvaras, Richard L Mort, Dominic Edwards, Kanna Ramaesh, Baljean Dhillon, Steven D Morley, Robert E Hill, John D West   +7 more
doaj   +2 more sources

PAX6 Downregulation Triggers HIF-1α-Mediated Ferroptosis in Glioma Cells [PDF]

Biomolecules
Background: The paired-box gene 6 (PAX6) is an important transcription factor in the central nervous system, mainly regulating the development and differentiation of embryonic eyes and the nervous system.
Qizhi Luo, Li Fu, Jie Zhang, Shashuang Zhang, Lixiang Wu, Quan Zhu, Baisheng Huang   +6 more
doaj   +2 more sources

TBL1X/TBL1XR1 govern β-cell identity through a PAX6-containing gene regulatory network. [PDF]

Nat Commun
Walth-Hummel AA, Jouffe C, Weber P, Motzler K, Geppert J, Sterr M, Gan W, Szczerbinska I, König AC, Hauck SM, Terron-Exposito R, Hass D, Wang C, Dyar KA, Lyon JG, Lickert H, Ämmälä C, Herzig S, Ashcroft FM, Bakhti M, MacDonald PE, Rohm M.   +21 more
europepmc   +3 more sources

Small Copy Number Neutral Intrachromosomal Translocation of PAX6 and Aniridia.

JAMA Ophthalmol
Reis LM, Tomei J, Gallagher R, Matter A, Carroll J, Broeckel U, Semina EV.   +6 more
europepmc   +3 more sources

Clinical and molecular aspects of congenital aniridia – A review of current concepts

Indian Journal of Ophthalmology, 2022
Congenital aniridia is a pan ocular disorder characterized by partial or total loss of iris tissue as the defining feature. Classic aniridia, however, has a spectrum of ocular findings, including foveal hypoplasia, optic nerve hypoplasia, nystagmus, late-
Shailja Tibrewal, Ria Ratna, Abha Gour, Sumita Agarkar, Suneeta Dubey, Suma Ganesh, Ramesh Kekunnaya, Virender Sangwan, Yutao Liu, Vanita Vanita   +9 more
doaj   +1 more source

3T3 cell lines stably expressing Pax6 or Pax6(5a)--a new tool used for identification of common and isoform specific target genes. [PDF]

PLoS ONE, 2012
Pax6 and Pax6(5a) are two isoforms of the evolutionary conserved Pax6 gene often co-expressed in specific stochiometric relationship in the brain and the eye during development.
Yury Kiselev, Tonje Engevik Eriksen, Siri Forsdahl, Lan Huong Thi Nguyen, Ingvild Mikkola   +4 more
doaj   +1 more source