(Q46216683)

20 December 2017

title

Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome (English)

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380010105

alternative mRNA splicing, via spliceosome

23 November 2023

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1284474

23 November 2023

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380010105

23 November 2023

author

Jaime Guevara-Aguirre

2

object named as

Guevara-Aguirre J

1 reference

20 December 2017

Arlan L. Rosenbloom

3

object named as

Rosenbloom AL

1 reference

20 December 2017

Ron Rosenfeld

4

object named as

Rosenfeld RG

1 reference

20 December 2017

author name string

Berg MA

1

1 reference

20 December 2017

Francke U

5

1 reference

20 December 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1284474

23 November 2023

publication date

1 January 1992

1 reference

20 December 2017

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.1380010105

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380010105

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.1380010105

23 November 2023

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380010105

23 November 2023

1 reference

20 December 2017

volume

1

1 reference

20 December 2017

issue

1

1 reference

20 December 2017

page(s)

24-32

1 reference

20 December 2017

Exon definition may facilitate splice site selection in RNAs with multiple exons

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

The sheep growth hormone receptor: molecular cloning and ontogeny of mRNA expression in the liver.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Laron dwarfism and mutations of the growth hormone-receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Chromosome mapping of the growth hormone receptor gene in man and mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

A systematic mutational analysis of hormone-binding determinants in the human growth hormone receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

The effect of circulating growth hormone-binding protein on metabolic clearance, distribution, and degradation of human growth hormone

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

The growth hormone-binding protein in rat serum is an alternatively spliced form of the rat growth hormone receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Structural design and molecular evolution of a cytokine receptor superfamily

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Molecular cloning of the chicken growth hormone receptor complementary deoxyribonucleic acid: mutation of the gene in sex-linked dwarf chickens

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Porcine growth hormone receptor cDNA sequence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

The role of nucleotide sequences in splice site selection in eukaryotic pre-messenger RNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Tissues of the Laron dwarf are sensitive to insulin-like growth factor I but not to growth hormone.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Peripheral Unresponsiveness to Human Growth Hormone in Laron Dwarfism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

"Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Growth hormone receptor deficiency (Laron syndrome): clinical and genetic characteristics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Cloning and in vivo expression of bovine growth hormone receptor mRNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Quantification analysis of 5'-splice signal sequences in mRNA precursors. Mutations in 5'-splice signal sequence of human beta-globin gene and beta-thalassemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Mode of action of pituitary growth hormone on target cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Receptor-active growth hormone in Laron dwarfism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Administration of Growth Hormone to Patients with Familial Dwarfism with High Plasma Immunoreactive Growth Hormone: Measurement of Sulfation Factor, Metabolic and Linear Growth Responses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Growth hormone receptor and serum binding protein: purification, cloning and expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

A catalogue of splice junction sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Splice site selection and ribonucleoprotein complex assembly during in vitro pre-mRNA splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Signals for the selection of a splice site in pre-mRNA. Computer analysis of splice junction sequences and like sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Abnormal RNA processing due to the exon mutation of βE-globin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

The little women of Loja--growth hormone-receptor deficiency in an inbred population of southern Ecuador

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Mouse serum growth hormone (GH) binding protein has GH receptor extracellular and substituted transmembrane domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Release of growth hormone binding protein from IM-9 lymphocytes by endopeptidase is dependent on sulfhydryl group inactivation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010105

7 January 2021

Archives francaises de pediatrie

2

48

5

Aguirre

1991

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380010105

23 November 2023

Identifiers

1 reference

20 December 2017

1 reference

20 December 2017