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Scholar Results 1 - 10 of about 50 citing Yasuda: PAX6 mutation as a genetic factor common to aniridia and glucose intolerance. (0.09 sec) 

Members of the Large Maf Transcription Family Regulate Insulin Gene Transcription in Islet { …

- nih.gov
T Matsuoka, L Zhao, I Artner, HW Jarrett, D … - Molecular and Cellular Biology, 2003 - Am Soc Microbiol
The C1/RIPE3b1 (-118/-107 bp) binding factor regulates
pancreatic-ß-cell-specific and glucose-regulated transcription of the insulin
gene. In the present study, the C1/RIPE3b1 activator from mouse ßTC-3 cell ...
Cited by 116 - Related articles - BL Direct - All 6 versions

PAX6 in sensory development

- oxfordjournals.org
V van Heyningen, KA Williamson - Human molecular genetics, 2002 - Oxford Univ Press
PAX6 function was first identified through aniridia-associated null mutations.
Since then, this transcription factor, with a paired domain and a homeodomain,
has become a paradigm, illustrating functional conservation in ...
Cited by 97 - Related articles - BL Direct - All 6 versions

The MafA transcription factor appears to be responsible for tissue-specific expression of …

- nih.gov
T Matsuoka, I Artner, E Henderson, A Means, … - Proceedings of the National Academy of Sciences of …, 2004 - National Acad Sciences
Insulin gene expression is regulated by several islet-enriched transcription
factors. However, MafA is the only β cell-specific activator. Here, we show
that MafA selectively induces endogenous insulin transcription in non-β ...
Cited by 83 - Related articles - BL Direct - All 10 versions

Minireview: development and differentiation of gut endocrine cells

- endojournals.org
SE Schonhoff, M Giel-Moloney, AB Leiter - Endocrinology, 2004 - Endocrine Soc
For over 30 yr, it has been known that enteroendocrine cells derive from common
precursor cells in the intestinal crypts. Until recently, relatively little was
understood about the events that result in commitment to endocrine ...
Cited by 75 - Related articles - BL Direct - All 4 versions

The islet β cell-enriched MafA activator is a key regulator of insulin gene transcription

- shouxi.net
L Zhao, M Guo, T Matsuoka, DK Hagman, SD … - Journal of Biological Chemistry, 2005 - ASBMB
The islet-enriched MafA, PDX-1, and BETA2 activators contribute to both β
cell-specific and glucose-responsive insulin gene transcription. To investigate
how these factors impart activation, their combined impact upon insulin ...
Cited by 68 - Related articles - All 7 versions

WAGR syndrome: a clinical review of 54 cases

- shouxi.net
BV Fischbach, KL Trout, J Lewis, CA Luis, M … - Pediatrics, 2005 - Am Acad Pediatrics
WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of
11p13 and is clinically associated with Wilms' tumor, aniridia, genitourinary
anomalies, and mental retardation (WAGR). Although the genotypic defects in ...
Cited by 42 - Related articles - BL Direct - All 13 versions

PAX 6 mutations: genotype-phenotype correlations


I Tzoulaki, I White, IM Hanson - BMC genetics, 2005 - biomedcentral.com
We examined the records in the Human PAX6 Allelic Variant Database and
documented the frequency of different mutation types, the phenotypes associated
with different mutation types, the contribution of CpG transitions to the ...
Cited by 42 - Related articles - Cached - All 7 versions

MafB

- diabetesjournals.org
I Artner, J Le Lay, Y Hang, L Elghazi, JC … - Diabetes, 2006 - Am Diabetes Assoc
The large Maf family of basic leucine-zipper–containing transcription factors
are known regulators of key developmental and functional processes in various
cell types, including pancreatic islets. Here, we demonstrate that within ...
Cited by 37 - Related articles - BL Direct - All 7 versions

Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2


AM Hever, KA Williamson, V van Heyningen - Clinical genetics, 2006 - interscience.wiley.com
Eye development initiates as an evagination of the early neural plate, before
the closure of the neural tube. Structural malformations of the eye such as
anophthalmia and microphthalmia arise very early in development. It is not ...
Cited by 37 - Related articles - BL Direct - All 5 versions

Aryl hydrocarbon receptor nuclear translocator-like (BMAL1) is associated with …

- pnas.org
PY Woon, PJ Kaisaki, J Bragança, MT … - Proceedings of the National Academy of Sciences, 2007 - National Acad Sciences
Many aspects of physiology and behavior follow a circadian rhythm. Brain and
muscle Arnt-like protein-1 (BMAL1) is a key component of the mammalian molecular
clock, which controls circadian oscillations. In the rat, the gene encoding ...
Cited by 29 - Related articles - BL Direct - All 8 versions


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