Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse (Q24323305)

GOA release 2020-03-11

brain development

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Homeobox gene expressed in ES cells

GOA release 2020-03-11

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GOA release 2020-03-11

septo-optic dysplasia

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J K Wales

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author name string

M T Dattani

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J P Martinez-Barbera

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P Q Thomas

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J M Brickman

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R Gupta

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I L Mårtensson

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H Toresson

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M Fox

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P C Hindmarsh

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S Krauss

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R S Beddington

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I C Robinson

Anterior primitive endoderm may be responsible for patterning the anterior neural plate in the mouse embryo

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language of work or name

English

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publication date

June 1998

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published in

Nature Genetics

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volume

19

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issue

2

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page(s)

125-33

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cites work

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The early formation of the corpus callosum: a light and electron microscopic study in foetal and neonatal rats

21 January 2018

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Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity

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Sequence, genomic organization, and expression of the novel homeobox gene Hesx1.

21 January 2018

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Hesx1, a homeobox gene expressed by murine embryonic stem cells, maps to mouse chromosome 14, bands A3-B.

21 January 2018

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Evidence for possible Mendelian inheritance of septo-optic dysplasia.

21 January 2018

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

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Crystal structure of an engrailed homeodomain-DNA complex at 2.8 A resolution: a framework for understanding homeodomain-DNA interactions

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Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism

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The Xenopus Brachyury promoter is activated by FGF and low concentrations of activin and suppressed by high concentrations of activin and by paired-type homeodomain proteins

21 January 2018

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Septo-optic dysplasia and pituitary dwarfism

21 January 2018

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The endocrine spectrum of septo-optic dysplasia

21 January 2018

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Hypopituitarism and septooptic "dysplasia" in first cousins

21 January 2018

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Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

21 January 2018

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Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

21 January 2018

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The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences

21 January 2018

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Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

21 January 2018

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A human MSX1 homeodomain missense mutation causes selective tooth agenesis

21 January 2018

1 reference

A homeodomain point mutation of the Drosophila proboscipedia protein provokes eye loss independently of homeotic function.

21 January 2018

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Diabetes insipidus with impaired osmotic regulation in septo-optic dysplasia and agenesis of the corpus callosum

21 January 2018

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A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency

21 January 2018

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Wild-type endoderm abrogates the ventral developmental defects associated with GATA-4 deficiency in the mouse.

21 January 2018

1 reference

An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination

21 January 2018

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Expression pattern of the murine LIM class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissues

21 January 2018

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Specification of pituitary cell lineages by the LIM homeobox gene Lhx3

21 January 2018

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Mutations in PROP1 cause familial combined pituitary hormone deficiency

21 January 2018

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Determinants of binding-site specificity among yeast C6 zinc cluster proteins

21 January 2018

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Interactions of a Rel protein with its inhibitor.

21 January 2018

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Irradiation hybrids for human chromosome 11: characterization and use for generating region-specific markers in 11q14-q23.

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21 January 2018

Septo-optic Dysplasia

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7 January 2021

Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia

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7 January 2021

Reciprocal effect of Waardenburg syndrome mutations on DNA binding by the Pax-3 paired domain and homeodomain

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7 January 2021

Hypothalamic defects in two adult patients with septo-optic dysplasia

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7 January 2021

Agenesis of the corpus callosum and macrocephaly in siblings

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7 January 2021