Diverse growth hormone receptor gene mutations in Laron syndrome. (Q35194129)

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13 October 2019

title

Diverse growth hormone receptor gene mutations in Laron syndrome (English)

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13 October 2019

2

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13 October 2019

Jaime Guevara-Aguirre

5

object named as

Guevara-Aguirre J

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13 October 2019

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Rosenbloom A

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13 October 2019

author name string

Berg MA

1

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13 October 2019

Chernausek S

3

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13 October 2019

Gracia R

4

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13 October 2019

Hopp M

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13 October 2019

Pérez-Jurado L

7

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13 October 2019

Toledo SP

9

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13 October 2019

Francke U

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13 October 2019

language of work or name

English

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publication date

1 May 1993

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American Journal of Human Genetics

13 October 2019

published in

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13 October 2019

volume

52

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13 October 2019

issue

5

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13 October 2019

page(s)

998-1005

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A hormonally controlled serum factor which stimulates sulfate incorporation by cartilage in vitro.

13 October 2019

cites work

1 reference

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A catalogue of splice junction sequences

13 July 2018

1 reference

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Organization and expression of eucaryotic split genes coding for proteins

13 July 2018

1 reference

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Genetic pituitary dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism?

13 July 2018

1 reference

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Mode of action of pituitary growth hormone on target cells

13 July 2018

1 reference

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

13 July 2018

1 reference

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

13 July 2018

1 reference

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

13 July 2018

1 reference

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

13 July 2018

1 reference

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682057

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682057

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682057

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682057

A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682057

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682057

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

13 July 2018

1 reference

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A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682057

Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682057

G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682057

Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682057

A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682057

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682057

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682057

Development of responsiveness of young normal rats to growth hormone

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682057

Congenital absence of the pituitary gland.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682057

Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not othe

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682057

The syndrome of familial dwarfism and high plasma immunoreactive human growth hormone

15 November 2018

1 reference

12 December 2020

Mutagenic deamination of cytosine residues in DNA

1 reference

12 December 2020

Familial dwarfism with high IR-GH: Report of two affected sibs with genetic and epidemiologic considerations

1 reference

12 December 2020

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

1 reference

12 December 2020

Defect of human growth hormone receptors in the liver of two patients with Laron-type dwarfism

1 reference

12 December 2020

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

1 reference

12 December 2020

Laron dwarfism and mutations of the growth hormone-receptor gene

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8488849%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference