(Q80385516)

English

The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency

scientific article published on 01 December 2006

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17526949%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17526949%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

author name string

Teresa C Vieira

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17526949%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Magnus R Dias da Silva

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17526949%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Julio Abucham

3

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Europe PubMed Central

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31 December 2019

publication date

1 December 2006

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17526949%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

Europe PubMed Central

PubMed publication ID

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31 December 2019

30

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31 December 2019

3

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Europe PubMed Central

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31 December 2019

365-369

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17526949%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

https://scigraph.springernature.com/pub.10.1007/s12020-006-0015-2

0 references

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular basis for developmental disorders of the pituitary gland in man.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mendelian disorders deserve more attention

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Modifier genetics: cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CDC growth charts: United States

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epigenetic differences arise during the lifetime of monozygotic twins

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Ames dwarf gene, df, is required early in pituitary ontogeny for the extinction of Rpx transcription and initiation of lineage-specific cell proliferation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PROP-1 Gene Mutation (R120C) Causing Combined Pituitary Hormone Deficiencies with Variable Clinical Course in Eight Siblings of One Jewish Moroccan Family

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variations in the Pattern of Pubertal Changes in Boys

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in PROP1 cause familial combined pituitary hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C)

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Central hypocortisolism as part of combined pituitary hormone deficiency due to mutations of PROP-1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S12020-006-0015-2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17526949%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17526949%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

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