Getting your Pax straight: Pax proteins in development and disease (Q28212326)

Evolution and role of Pax genes

Europe PubMed Central

title

Getting your Pax straight: Pax proteins in development and disease (English)

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author name string

Neil Chi

series ordinal

1

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Jonathan A Epstein

series ordinal

2

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language of work or name

English

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publication date

January 2002

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published in

Trends in Genetics

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volume

18

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page(s)

41-7

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issue

1

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cites work

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DNA sequence recognition by Pax proteins: bipartite structure of the paired domain and its binding site.

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Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing

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Crystal structure of a paired domain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations

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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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Cooperative dimerization of paired class homeo domains on DNA.

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Alternatively spliced insertions in the paired domain restrict the DNA sequence specificity of Pax6 and Pax8.

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An alternative splicing event in the Pax-3 paired domain identifies the linker region as a key determinant of paired domain DNA-binding activity.

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Transcriptional repression by Pax5 (BSAP) through interaction with corepressors of the Groucho family

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

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HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3

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The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx

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Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.

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A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant

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Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret

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Neural crest cells contribute to normal aorticopulmonary septation

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Neural crest expression of Cre recombinase directed by the proximal Pax3 promoter in transgenic mice

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Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome

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Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3

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Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10.

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Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

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An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

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Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1.

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SOX10 mutations in patients with Waardenburg-Hirschsprung disease

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Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

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Redefining the genetic hierarchies controlling skeletal myogenesis: Pax-3 and Myf-5 act upstream of MyoD.

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Essential role for the c-met receptor in the migration of myogenic precursor cells into the limb bud

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Pax3 modulates expression of the c-Met receptor during limb muscle development

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7 January 2021

Pax7 is required for the specification of myogenic satellite cells

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7 January 2021

Pax 6: mastering eye morphogenesis and eye evolution

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The human PAX6 gene is mutated in two patients with aniridia

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Mouse small eye results from mutations in a paired-like homeobox-containing gene

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PAX6 missense mutation in isolated foveal hypoplasia

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Synergistic regulation of vertebrate muscle development by Dach2, Eya2, and Six1, homologs of genes required for Drosophila eye formation

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Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila

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Lens induction by Pax-6 in Xenopus laevis.

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Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development

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7 January 2021

Pax6 is required for the multipotent state of retinal progenitor cells

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7 January 2021

Pax6 is required for differentiation of glucagon-producing α-cells in mouse pancreas

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7 January 2021

The Pax4 gene is essential for differentiation of insulin-producing β cells in the mammalian pancreas

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7 January 2021

Genetic analysis reveals that PAX6 is required for normal transcription of pancreatic hormone genes and islet development

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7 January 2021

Paired-homeodomain transcription factor PAX4 acts as a transcriptional repressor in early pancreatic development

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7 January 2021

Complete block of early B cell differentiation and altered patterning of the posterior midbrain in mice lacking Pax5/BSAP

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7 January 2021

Pax-5 (BSAP) recruits Ets proto-oncogene family proteins to form functional ternary complexes on a B-cell-specific promoter

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7 January 2021

Defects in cardiac outflow tract formation and pro-B-lymphocyte expansion in mice lacking Sox-4

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7 January 2021

Commitment to the B-lymphoid lineage depends on the transcription factor Pax5

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7 January 2021

Long-term in vivo reconstitution of T-cell development by Pax5-deficient B-cell progenitors

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7 January 2021

Cross-talk in kidney development

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7 January 2021

Reduced Pax2 gene dosage increases apoptosis and slows the progression of renal cystic disease

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7 January 2021

The role of PAX2 in normal and abnormal development of the urinary tract.

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7 January 2021

The PAX2 tanscription factor is expressed in cystic and hyperproliferative dysplastic epithelia in human kidney malformations

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7 January 2021

Follicular cells of the thyroid gland require Pax8 gene function

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7 January 2021

PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis

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7 January 2021

Pax 1, a member of a paired box homologous murine gene family, is expressed in segmented structures during development

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7 January 2021

Characterization and developmental expression of Pax9, a paired-box-containing gene related to Pax1

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7 January 2021

Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities.

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7 January 2021

Mutation of PAX9 is associated with oligodontia

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7 January 2021

Chromosomal translocations involving paired box transcription factors in human cancer

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7 January 2021

PAX8-PPARgamma1 fusion oncogene in human thyroid carcinoma [corrected]

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7 January 2021

Loss of p53 function through PAX-mediated transcriptional repression.

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7 January 2021