Results 51 to 60 of about 20,380 (169)

Rieger syndrome is associated with PAX6 deletion [PDF]

Acta Ophthalmologica Scandinavica, 2001
ABSTRACT. Purpose: Rieger syndrome is an autosomal dominant condition defined by anterior segment dysgenesis in combination with facial, dental, skeletal and umbilical abnormalities. To date Rieger syndrome has been associated with mutations in the PITX2 gene at chromosome 4q25 and a second locus has been found at chromosome 13q14.Methods: We describe ...
R, Riise, K, Storhaug, K, Brøndum-Nielsen   +2 more
openaire   +2 more sources

Effects of Tributyltin Chloride on Human Neuronal Differentiation and Mice Brain Development

Environmental Toxicology, EarlyView.
ABSTRACT According to the developmental origins of health and disease hypothesis, perinatal exposure to an environmental toxicant during the development of the nervous system could cause a permanent cellular modification that may promote the appearance of neurodegenerative diseases at an older age.
Ester López‐Gallardo, Patricia Meade, Irene Jiménez‐Salvador, Carmen Hernández‐Ainsa, Eldris Iglesias, Alba Pesini, Nuria Garrido‐Pérez, Sonia Emperador, David Pacheu‐Grau, Pilar Bayona‐Bafaluy, Eduardo Ruiz‐Pesini   +10 more
wiley   +1 more source

Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences.

PLoS Genetics, 2013
Pax6 is a developmental control gene essential for eye development throughout the animal kingdom. In addition, Pax6 plays key roles in other parts of the CNS, olfactory system, and pancreas.
Vydianathan Ravi, Shipra Bhatia, Philippe Gautier, Felix Loosli, Boon-Hui Tay, Alice Tay, Emma Murdoch, Pedro Coutinho, Veronica van Heyningen, Sydney Brenner, Byrappa Venkatesh, Dirk A Kleinjan   +11 more
doaj   +1 more source

Pax6 directly down-regulates Pcsk1n expression thereby regulating PC1/3 dependent proinsulin processing. [PDF]

PLoS ONE, 2012
Heterozygous paired box6 (Pax6) mutations lead to abnormal glucose metabolism in mice older than 6 months as well as in human beings. Our previous study found that Pax6 deficiency caused down-expression of prohormone convertase 1/3 (Pcsk1), resulting in ...
Ting Liu, Yanxia Zhao, Na Tang, Ruopeng Feng, Xiaolong Yang, Nicole Lu, Jinhua Wen, Lingsong Li   +7 more
doaj   +1 more source

Pax6 Regulates Cell Adhesion during Cortical Development [PDF]

Cerebral Cortex, 2003
Pax6 is a member of an evolutionarily conserved family of transcription factors. It is developmentally regulated and is required for the normal embryonic development of the central nervous system, eye and pancreas. Pax6 mutations in the mouse result in the Small eye (Sey) phenotype.
David A, Tyas, Helen, Pearson, Penny, Rashbass, David J, Price   +3 more
openaire   +2 more sources

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source

The developmental regulator Pax6 is essential for maintenance of islet cell function in the adult mouse pancreas.

PLoS ONE, 2013
The transcription factor Pax6 is a developmental regulator with a crucial role in development of the eye, brain, and olfactory system. Pax6 is also required for correct development of the endocrine pancreas and specification of hormone producing ...
Alan W Hart, Sebastien Mella, Jacek Mendrychowski, Veronica van Heyningen, Dirk A Kleinjan   +4 more
doaj   +1 more source

PAX6 regulates human corneal epithelium cell identity [PDF]

Experimental Eye Research, 2017
PAX6, a paired box transcription factor, is necessary for eye development. However, how it regulates the cell identity of human corneal epithelial cells (CECs) is not well understood. We aimed to clarify the function of PAX6 in human CECs using gene knockout via the clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR ...
Kitazawa, Koji, Hikichi, Takafusa, Nakamura, Takahiro, Sotozono, Chie, Kinoshita, Shigeru, Masui, Shinji   +5 more
openaire   +2 more sources

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Regulation of Merkel cell development by Pax6

The International Journal of Developmental Biology, 2012
Merkel cells are mechanoreceptors widely distributed in the vertebrate skin. In rodents, Merkel cells within the whisker pads are innervated by free sensory nerve endings derived from the maxillary branch of the trigeminal nerve. This study identified expression of the transcription factor Pax6 in Merkel cells and investigated its role ...
Ida, Parisi, J Martin, Collinson
openaire   +3 more sources