Results 71 to 80 of about 36,753 (224)
BMC Genetics, 2005 Background The PAX6 protein is a transcriptional regulator with a key role in ocular and neurological development. Individuals with heterozygous loss-of-function mutations in the PAX6 gene have malformations of the eye and brain.
Hanson Isabel M, Cooper Simon T
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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 +7 more
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PAX6 isoforms, along with reprogramming factors, differentially regulate the induction of cornea-specific genes [PDF]
, 2016 PAX6 is the key transcription factor involved in eye development in humans, but the differential functions of the two PAX6 isoforms, isoform-a and isoform-b, are largely unknown.
Hayashi, Ryuhei +9 more
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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 +3 more
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Pediatric Investigation, EarlyView.Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source
Molecular Therapy: Nucleic Acids, 2018 Aniridia is a rare congenital syndrome that is associated with reduced visual acuity and progressive loss of vision. Aniridia patients may also develop systemic health issues associated with defects in the pancreas, digestive, and central nervous systems.
Kevin Yongblah +4 more
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A Regulatory Circuitry Between Gria2, miR-409, and miR-495 Is Affected by ALS FUS Mutation in ESC-Derived Motor Neurons [PDF]
, 2018 Mutations in fused in sarcoma (FUS) cause amyotrophic lateral sclerosis (ALS). FUS is a multifunctional protein involved in the biogenesis and activity of several types of RNAs, and its role in the pathogenesis of ALS may involve both direct effects of
Biscarini, Silvia +10 more
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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 +5 more
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Small Methods, EarlyView.This study shows that human iPSC‐derived endothelial cells acquire a functional blood–brain barrier phenotype when co‐cultured with brain pericytes and stimulated with CHIR‐99021, a Wnt/β‐catenin activator. This model recapitulates key barrier properties, inflammatory responses, and transcriptomic features of the native human BBB, offering new ...
Henrique Nogueira Pinto +12 more
wiley +1 more source
Cancer Management and Research, 2020 Xian Hu Zhang,1 Bing Feng Li,1 Jie Ding,2 Lei Shi,1 Huo Ming Ren,1 Kui Liu,1 Chuan Cai Huang,1 Fu Xiao Ma,1 Xin Yao Wu1 1Department of General Surgery, Suzhou First People’s Hospital, Suzhou, Anhui 234000, People’s Republic of China ...
Zhang XH +8 more
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