Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss (Q24320099)

SRY-box transcription factor 2

GOA release 2020-03-11

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GOA release 2020-03-11

inner ear development

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GOA release 2020-03-11

hearing loss

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sensorineural hearing loss

inferred from title

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1

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Mehul T Dattani

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object named as

Mehul T Dattani

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Daniel Kelberman

2

object named as

Daniel Kelberman

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Dianne Gerrelli

9

object named as

Dianne Gerrelli

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author name string

Sandra C P de Castro

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Heike Biebermann

4

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Hala Shaikh

5

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Kerra Pearce

6

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Catherine M Hall

7

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Guftar Shaikh

8

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Annette Grueters

10

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Heiko Krude

Development of the auditory hair cell surface in human fetuses. A scanning electron microscopy study

11

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language of work or name

English

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publication date

15 July 2008

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published in

Human Molecular Genetics

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volume

17

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issue

14

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page(s)

2150-9

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

The molecular genetics of growth hormone deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Expression of LHX3 and SOX2 during mouse inner ear development

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Mechanisms underlying pituitary hypoplasia and failed cell specification in Lhx3-deficient mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Utah Growth Study: growth standards and the prevalence of growth hormone deficiency

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Distortion product otoacoustic emissions and outer hair cell defects in the hyt/hyt mutant mouse

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Modulation of SOX2 and SOX3 gene expression during differentiation of human neuronal precursor cell line NTERA2.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Sox2 is required for sensory organ development in the mammalian inner ear

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Mutations in SOX2 cause anophthalmia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

P-Lim, a LIM homeodomain factor, is expressed during pituitary organ and cell commitment and synergizes with Pit-1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Interactions between an HMG-1 protein and members of the Rel family

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

The mouse homeoprotein mLIM-3 is expressed early in cells derived from the neuroepithelium and persists in adult pituitary.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory but not in the vestibular system

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Specification of pituitary cell lineages by the LIM homeobox gene Lhx3

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Math1: an essential gene for the generation of inner ear hair cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Incidence of growth hormone deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Prevalence of severe growth hormone deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Molecular physiology of pituitary development: signaling and transcriptional networks

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Two promoters mediate transcription from the human LHX3 gene: involvement of nuclear factor I and specificity protein 1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Nonsense-mediated mRNA decay in mammals

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021

Prevalence and demographic features of childhood growth hormone deficiency in Belgium during the period 1986-2001.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN114

7 January 2021