The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism (Q42834348)

8 November 2017

title

The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism (English)

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8 November 2017

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3

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6 June 2020

John Torpiano

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Juan Pedro Martinez-Barbera

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author name string

L C Gregory

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C Gaston-Massuet

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6 June 2020

G Carreno

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6 June 2020

E A Webb

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6 June 2020

D Kelberman

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M J McCabe

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6 June 2020

L Panagiotakopoulos

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J W Saldanha

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H A Spoudeas

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M Rossi

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J Raine

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N Canham

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M T Dattani

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6 June 2020

publication date

9 December 2014

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8 November 2017

published in

Clinical Endocrinology

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6 June 2020

volume

82

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issue

5

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6 June 2020

page(s)

728-738

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GLI2 is expressed in normal human epidermis and BCC and induces GLI1 expression by binding to its promoter

6 June 2020

cites work

1 reference

Comparative synteny cloning of zebrafish you-too: mutations in the Hedgehog target gli2 affect ventral forebrain patterning

21 January 2018

1 reference

Management of children with holoprosencephaly

21 January 2018

1 reference

Direct and indirect requirements of Shh/Gli signaling in early pituitary development

21 January 2018

1 reference

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

21 January 2018

1 reference

Genetic regulation of pituitary gland development in human and mouse

21 January 2018

1 reference

Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

21 January 2018

1 reference

Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency

21 January 2018

1 reference

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.

21 January 2018

1 reference

Genetic control of pituitary development and hypopituitarism.

21 January 2018

1 reference

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

21 January 2018

1 reference

Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.

21 January 2018

1 reference

Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog

21 January 2018

1 reference

Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients

21 January 2018

1 reference

Pax3 synergizes with Gli2 and Zic1 in transactivating the Myf5 epaxial somite enhancer

21 January 2018

1 reference

Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans

21 January 2018

1 reference

Sox2(+) stem/progenitor cells in the adult mouse pituitary support organ homeostasis and have tumor-inducing potential

21 January 2018

1 reference

Clinical findings in patients with GLI2 mutations--phenotypic variability.

21 January 2018

1 reference

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.

21 January 2018

1 reference

A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2

21 January 2018

1 reference

Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction

21 January 2018

1 reference

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly

21 January 2018

1 reference

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia

21 January 2018

1 reference

CFC1 mutations in Chinese children with congenital heart disease.

21 January 2018

1 reference

Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly

21 January 2018

1 reference

Expression of three mouse homologs of the Drosophila segment polarity gene cubitus interruptus, Gli, Gli-2, and Gli-3, in ectoderm- and mesoderm-derived tissues suggests multiple roles during postimplantation development

21 January 2018

1 reference

Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly

21 January 2018

1 reference

Recent progress in the study of Hedgehog signaling

21 January 2018

1 reference