Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia (Q84819465)

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11 February 2020

title

Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia (English)

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neonatal diabetes mellitus

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main subject

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Benjamin D Solomon

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Daniel E Pineda-Alvarez

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Joan Z Balog

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Donald Hadley

4

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Andrea L Gropman

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Radha Nandagopal

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Joan C Han

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Jin S Hahn

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Delphine Blain

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Brian Brooks

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Maximilian Muenke

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11 February 2020

publication date

1 November 2009

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American Journal of Medical Genetics

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published in

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volume

149A

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issue

11

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page(s)

2543-2546

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Pax6 is essential for establishing ventral-dorsal cell boundaries in pituitary gland development

11 February 2020

cites work

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12 December 2020

Paired box 6 (PAX6) regulates glucose metabolism via proinsulin processing mediated by prohormone convertase 1/3 (PC1/3).

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12 December 2020

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

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12 December 2020

Pax6; a pleiotropic player in development.

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12 December 2020

The human PAX6 gene is mutated in two patients with aniridia

1 reference

12 December 2020

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

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12 December 2020

High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA

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12 December 2020

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

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12 December 2020

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

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12 December 2020

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

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12 December 2020

Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding

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12 December 2020

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

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12 December 2020

Pax6 is implicated in murine pituitary endocrine function

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12 December 2020

PAX6 mutations: genotype-phenotype correlations

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12 December 2020

Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations

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12 December 2020

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

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12 December 2020

Genetic analysis of chromosome 11p13 and thePAX6 gene in a series of 125 cases referred with aniridia

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12 December 2020

Expression pattern of PAX3 and PAX6 genes during human embryogenesis.

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12 December 2020

Identifiers

DOI

10.1002/AJMG.A.33081

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11 February 2020

PubMed publication ID

19876904

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