(Q57263829)

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Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature

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Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature (English)

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David N. Cooper

object named as

David N. Cooper

18

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Michael Krawczak

17

object named as

Michael Krawczak

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author name string

David S. Millar

1

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Mark D. Lewis

2

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Martin Horan

3

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Vicky Newsway

4

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Tammy E. Easter

5

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John W. Gregory

6

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Linda Fryklund

7

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Martin Norin

8

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Elizabeth C. Crowne

9

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Sally J. Davies

10

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Phillip Edwards

11

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Jeremy Kirk

12

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Kim Waldron

13

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Patricia J. Smith

14

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John A. Phillips

15

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Maurice F. Scanlon

16

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Annie M. Procter

19

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publication date

19 March 2003

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21

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424-440

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4

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Genes that prolong life: relationships of growth hormone and growth to aging and life span

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The human growth hormone gene is regulated by a multicomponent locus control region

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Pituitary-specific factor binding to the human prolactin, growth hormone, and placental lactogen genes

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Growth hormone as a risk for premature mortality in healthy subjects: data from the Paris prospective study

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Growth hormone signal transduction.

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High-affinity binding sites to the vitamin D receptor DNA binding domain in the human growth hormone promoter.

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Measurement of Growth Hormone Synthesis by Rat Pituitary Cells in Culture*

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Growth Hormone Heterogeneity: Genes, Isohormones, Variants, and Binding Proteins

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A pituitary-specific trans-acting factor can stimulate transcription from the growth hormone promoter in extracts of nonexpressing cells

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A critical analysis of the role of growth hormone and IGF-1 in aging and lifespan.

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The human growth hormone locus: nucleotide sequence, biology, and evolution

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A hot spot of binding energy in a hormone-receptor interface

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The limit of human adaptation to starvation

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Comparison of a structural and a functional epitope

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Protein folding and deficiencies caused by dominant-negative mutants of hormones

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Effect of different growth hormone (GH) mutants on the regulation of GH-receptor gene transcription in a human hepatoma cell line.

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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Human growth hormone and extracellular domain of its receptor: crystal structure of the complex

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Signaling pathways activated by the growth hormone receptor

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Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region.

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Growth hormone can act as a cytokine controlling survival and proliferation of immune cells: new insights into signaling pathways

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7 January 2021

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Evolution of the proximal promoter region of the mammalian growth hormone gene.

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Causes of short stature. A community study of children in Newcastle upon Tyne.

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Association of a common polymorphism in the human GH1 gene with colorectal neoplasia

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Mitogen-activated protein kinase mediates epidermal growth factor-induced morphogenesis in pituitary GH3 cells

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Detection of growth hormone gene defects by dideoxy fingerprinting (ddF)

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Growth hormone binding affinity for its receptor surpasses the requirements for cellular activity

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A reassessment of the translation initiation codon in vertebrates

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The molecular genetics of growth hormone deficiency

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Aetiology of idiopathic growth hormone deficiency in England and Wales

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Is growth hormone deficiency a viable diagnosis?

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7 January 2021

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A short isoform of the human growth hormone receptor functions as a dominant negative inhibitor of the full-length receptor and generates large amounts of binding protein

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Growth hormone and the immune response to bacterial infection

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Localization of a negative vitamin D response sequence in the human growth hormone gene.

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Brief report: short stature caused by a mutant growth hormone

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Biologically inactive growth hormone caused by an amino acid substitution

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An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II

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Increased mortality associated with growth hormone treatment in critically ill adults

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Clinical longitudinal standards for height, weight, height velocity, weight velocity, and stages of puberty

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Prevalence of severe growth hormone deficiency

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Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

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A new method for predicting signal sequence cleavage sites

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Stimulation of endogenous GH and interleukin-6 receptors selectively activates different Jaks and Stats, with a Stat5 specific synergistic effect of dexamethasone.

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Function switching as a basis for bursts of rapid change during the evolution of pituitary growth hormone

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Molecular evolution of GH in primates: characterisation of the GH genes from slow loris and marmoset defines an episode of rapid evolutionary change

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Characterisation of the GH gene cluster in a new-world monkey, the marmoset (Callithrix jacchus)

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The role of growth hormone in fetal development

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Binding in the growth hormone receptor complex

1 reference

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Signal transduction via the growth hormone receptor

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Identifiers

10.1002/HUMU.10168

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