A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II. (Q37482670)

20 August 2017

A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II. (English)

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isolated growth hormone deficiency type II

20 August 2017

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author name string

Rizwan Hamid

1

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20 August 2017

John A Phillips

2

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20 August 2017

Cindy Holladay

3

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20 August 2017

Joy D Cogan

4

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20 August 2017

Eric D Austin

5

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20 August 2017

Philippe F Backeljauw

6

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20 August 2017

Sharon H Travers

7

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20 August 2017

James G Patton

8

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20 August 2017

language of work or name

English

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publication date

16 October 2009

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The Journal of Clinical Endocrinology and Metabolism

20 August 2017

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20 August 2017

94

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20 August 2017

12

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20 August 2017

4728-4734

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Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795644

Expression, regulation and biological actions of growth hormone (GH) and ghrelin in the immune system

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795644

Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795644

Rescue of pituitary function in a mouse model of isolated growth hormone deficiency type II by RNA interference

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795644

Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795644

Quantification of mRNA using real-time reverse transcription PCR (RT-PCR): trends and problems.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795644

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795644

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795644

Genomic structure, alternative splicing and expression of TG-interacting factor, in human myeloid leukemia blasts and cell lines

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795644

GH1 splicing is regulated by multiple enhancers whose mutation produces a dominant-negative GH isoform that can be degraded by allele-specific small interfering RNA (siRNA).

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795644

An efficient method for the rapid establishment of Epstein-Barr virus immortalization of human B lymphocytes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795644

Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795644

Autosomal dominant growth hormone (GH) deficiency type II: the Del32-71-GH deletion mutant suppresses secretion of wild-type GH.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795644

Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795644

Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795644

Inhibition of growth hormone (GH) secretion by a mutant GH-I gene product in neuroendocrine cells containing secretory granules: an implication for isolated GH deficiency inherited in an autosomal dominant manner

2 September 2018

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12 December 2020

The molecular genetics of growth hormone deficiency

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12 December 2020

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

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12 December 2020

Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein

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12 December 2020

Identifiers

DOI

10.1210/JC.2009-0746

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20 August 2017

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20 August 2017

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