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Scholar Results 1 - 10 of about 101 related to Yasuda: PAX6 mutation as a genetic factor common to aniridia and glucose intolerance. (0.11 sec) 

PAX6 mutation as a genetic factor common to aniridia and glucose intolerance


T Yasuda, Y Kajimoto, Y Fujitani, H Watada … - Diabetes, 2002 - Am Diabetes Assoc
A paired homeodomain transcription factor, PAX6, is a well-known regulator of
eye development, and its heterozygous mutations in humans cause congenital eye
anomalies such as aniridia. Because it was recently shown that PAX6 also ...
Cited by 50 - Related articles - BL Direct - All 5 versions

Conditional inactivation of Pax6 in the pancreas causes early onset of diabetes


R Ashery-Padan, X Zhou, T Marquardt, P … - Developmental Biology, 2004 - Elsevier
Pax6 transcription factor is required for islet cell number, morphology, and
hormone gene expression. The perinatal lethality of Pax6 null mutants has
restricted investigation of the role of Pax6 in normal endocrine cell ...
Cited by 45 - Related articles - All 3 versions

A case of novel de novo paired box gene6 (PAX6) mutation with early-onset diabetes …


M Nishi, M Sasahara, T Shono, S Saika, Y … - Diabetic Medicine, 2005 - interscience.wiley.com
Case report A 27-year-old woman was referred to our clinic. She was diagnosed
having diabetes at the age of 15 with negative glutamic acid decarboxylase (GAD)
antibody. Insulin treatment was started at age 24. Because she had ...
Cited by 7 - Related articles - All 4 versions

Adult pancreatic islets require differential pax6 gene dosage


A Hamasaki, Y Yamada, T Kurose, N Ban, K … - Biochemical and Biophysical Research …, 2007 - Elsevier
Pax6, a paired homeodomain transcription factor, plays crucial roles in
morphogenesis of eye, central nervous system, and pancreatic islets. Recently,
heterozygosity for pax6 mutation has been reported in some individuals with ...
Cited by 8 - Related articles - All 6 versions

The islet beta cell-enriched RIPE3b1/Maf transcription factor regulates pdx-1 expression

- jbc.org
SE Samaras, L Zhao, A Means, E Henderson, … - Journal of Biological Chemistry, 2003 - ASBMB
Pancreatic duodenal homeobox factor-1, PDX-1, is required for pancreas
development, islet cell differentiation, and the maintenance of cell function.
Selective expression in the pancreas appears to be principally regulated by ...
Cited by 42 - Related articles - BL Direct - All 4 versions

Aniridia and optic nerve hypoplasia


TJ McCulley, K Mayer, SS Dahr, J Simpson, … - Eye, 2004 - nature.com
Eye is the official journal of the Royal College of Ophthalmologists. It aims to
provide the practising ophthalmologist with information on the latest clinical ...
Cited by 10 - Related articles - All 4 versions

A device to facilitate limbal stem cell procurement from eye bank donor tissue for …


DM Meisler, VL Perez, J Proudfit - American journal of ophthalmology, 2005 - Elsevier
The device is composed of a pedestal with a convex surface mounted to a flat
platform. A corneoscleral button placed endothelial side down and centrally upon
the convexity is secured by suction conveyed through a hollowed core in the ...
Cited by 5 - Related articles - All 16 versions

Genetic analysis reveals that PAX6 is required for normal transcription of pancreatic …


M Sander, A Neubüser, J Kalamaras, HC Ee, … - Genes & development, 1997 - genesdev.cshlp.org
We present genetic and biochemical evidence that PAX6 is a key regulator of
pancreatic islet hormone gene transcription and is required for normal islet
development. In embryos homozygous for a mutant allele of the Pax6 gene, ...
Cited by 297 - Related articles - BL Direct - All 4 versions

Essential requirement for Pax6 in control of enteroendocrine proglucagon gene transcription


ME Hill, SL Asa, DJ Drucker - Molecular Endocrinology, 1999 - Endocrine Soc
The primary function of islet A cells is the synthesis and secretion of
glucagon, an essential hormonal regulator of glucose homeostasis. The
proglucagon gene is also expressed in enteroendocrine L cells of the ...
Cited by 51 - Related articles - BL Direct - All 5 versions

Functional properties of natural human PAX6 and PAX6 (5a) mutants

- iovs.org
BK Chauhan, Y Yang, K Cveklova, A Cvekl - Investigative ophthalmology & visual science, 2004 - ARVO
PURPOSE. Pax6 is essential for development of the eye, brain, and pancreas. Two
major products of PAX6 are specific DNA-binding proteins, PAX6 and PAX6(5a).
PAX6(5a) contains a short insertion influencing its DNA-binding activity. ...
Cited by 21 - Related articles - BL Direct - All 5 versions


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