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14 risultati
Case of aniridia with a heterozygous PAX6 mutation in which the glucagon response to arginine was evaluated.
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Mutation in the PAX6 gene in twenty patients with aniridia.
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This is a report on the nature of the mutations in the PAX6 gene in twenty patients with aniridia. Five of the twenty patients had sporadic aniridia with deletions in chromosome 11p13. Three of the five had WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, mental retardation), and the
[R240X mutation of the PAX6 gene in a Chinese family with congenital aniridia].
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OBJECTIVE
To study the PAX6 gene mutation in a Chinese pedigree with congenital aniridia.
METHODS
Linkage analysis was performed to the Chinese family with congenital aniridia using two microsatellite markers D11S904 and D11S935. Analysis of the PAX6 gene mutation was done by direct sequencing of
A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family.
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OBJECTIVE
Aniridia is phenotyically and genetically heterogeneous. This study is to summarize the phenotypes and identify the genetic defect responsible for aniridia and congenital progressive cataract in a three generation Chinese family.
METHODS
A detailed family history and clinical data from
Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China.
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OBJECTIVE
Haplo-insufficiency at the paired box gene 6 (PAX6) locus causes aniridia,which is characterized by iris hypoplasia and other anterior and posterior eye defects leading to poor vision. This study aimed to identify novel PAX6 mutations that lead to familial and sporadic aniridia in
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
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Congenital aniridia is due to deletions and point mutations in the PAX6 gene. We describe here a case of a mother and her two sons with a syndrome comprising congenital aniridia, ptosis, and slight mental retardation. The sons also show behavioral changes. The possibility of deletion around the PAX6
Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature.
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OBJECTIVE
To identify PAX6 mutations in patients from four Japanese families with aniridia.
METHODS
Polymerase chain reaction (PCR)-single stand conformational polymorphism (SSCP) analysis (SSCA) was performed in probands of the families, and restriction analysis using MaeIII or AvaI was carried out
A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.
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BACKGROUND
A variety of PAX6 gene mutations were identified in patients with aniridia and/or allied ocular dysgenesis such as keratopathy, Peters' anomaly, foveal hypoplasia, and nystagmus. To scrutinize the etiology of a four-generation Japanese family with autosomal dominant nystagmus associated
A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia.
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Purpose: Congenital aniridia is a kind of panocular disorder characterized by the absence of the iris in both eyes. Paired box 6 (PAX6) gene mutations have been identified as the most common cause of congenital aniridia. The aim of this study was to reveal the genetic defect in
Adult pancreatic islets require differential pax6 gene dosage.
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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 glucose intolerance and aniridia. To investigate the role of pax6 for
Reversible impairment of glucose-induced insulin secretion in SHR/N-cp rats. Genetic model of type II diabetes.
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The SHR/N-cp rat is a new genetically obese model for non-insulin-dependent diabetes mellitus. Expression of the diabetes is enhanced by a high-sucrose (54%) diet. After 4 wk on the diet, the cp/cp rats weigh significantly more than their +/? controls, have postprandial hyperglycemia (greater than
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.
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Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM 193003). PAX6 (11p13, OMIM 607108) mutations can also cause autosomal-dominant nystagmus, typically in association with aniridia or iris hypoplasia. We studied a large
Denys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modifications.
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Mutations in human zinc-finger transcription factor WT1 result in abnormal development of the kidneys and genitalia and an array of pediatric problems including nephropathy, blastoma, gonadal dysgenesis and genital discordance. Several overlapping phenotypes are associated with WT1 mutations,
Nuclear localization signals, DNA binding, and transactivation properties of quail Pax-6 (Pax-QNR) isoforms.
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We reported previously the characterization of Pax-QNR/Pax-6 products expressed in the avian neuroretina. Five proteins (48, 46, 43, 33, and 32 kDa) were characterized, among which the 33 and 32 kDa proteins are devoid of the paired domain. In contrast to the 48-kDa (containing an alternative paired
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