(Q52563288)

29 June 2018

9 references

24 March 2019

20 June 2019

31 July 2019

28 September 2019

17 November 2019

20 November 2019

27 November 2019

15 December 2019

21 December 2019

Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature. (English)

1 reference

29 June 2018

main subject

cell surface receptor

1 reference

31 July 2019

1 reference

28 September 2019

1 reference

17 November 2019

1 reference

20 November 2019

1 reference

27 November 2019

1 reference

15 December 2019

1 reference

21 December 2019

1 reference

Michaela Plamper

1

1 reference

29 June 2018

Bettina Gohlke

series ordinal

2

1 reference

29 June 2018

Felix Schreiner

series ordinal

3

1 reference

29 June 2018

Joachim Woelfle

series ordinal

4

1 reference

29 June 2018

language of work or name

English

0 references

publication date

24 April 2018

10 references

29 June 2018

International Journal of Molecular Sciences

24 March 2019

20 June 2019

31 July 2019

28 September 2019

17 November 2019

20 November 2019

27 November 2019

15 December 2019

21 December 2019

10 references

29 June 2018

24 March 2019

20 June 2019

31 July 2019

28 September 2019

17 November 2019

20 November 2019

27 November 2019

15 December 2019

21 December 2019

19

1 reference

29 June 2018

issue

5

1 reference

29 June 2018

Creative Commons Attribution

copyright license

9 references

24 March 2019

20 June 2019

31 July 2019

28 September 2019

17 November 2019

20 November 2019

27 November 2019

15 December 2019

21 December 2019

0 references

A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Donohue syndrome and use of continuous subcutaneous insulin pump therapy

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Effectiveness and Safety of rhIGF-1 Therapy in Children: The European Increlex® Growth Forum Database Experience

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Continuous subcutaneous IGF-1 therapy via insulin pump in a patient with Donohue syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Two novel mutations identified in familial cases with Donohue syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Development of endometrial carcinoma in a patient with leprechaunism (donohue syndrome).

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Metreleptin improves blood glucose in patients with insulin receptor mutations

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Genetics in endocrinology: genetic forms of severe insulin resistance: what endocrinologists should know

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Renal manifestations of severe Rabson-Mendenhall syndrome: a case report

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Syndromic insulin resistance: models for the therapeutic basis of the metabolic syndrome and other targets of insulin resistance

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Genetic Syndromes of Severe Insulin Resistance

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Multidrug therapy in a patient with Rabson–Mendenhall syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Rabson-Mendenhall syndrome: two case reports and a brief review of the literature

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Treatment of dwarfism with recombinant human insulin-like growth factor-1.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Thyroid hormone induced brown adipose tissue and amelioration of diabetes in a patient with extreme insulin resistance

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Prevention of beta cell dysfunction and apoptosis by adenoviral gene transfer of rat insulin-like growth factor 1.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Mecasermin (recombinant human insulin-like growth factor I).

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Impaired sodium excretion and increased blood pressure in mice with targeted deletion of renal epithelial insulin receptor

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Mecasermin rinfabate: rhIGF-I/rhIGFBP-3 complex: iPLEX

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

IGF-I treatment of insulin resistance

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Mechanisms of disease: metabolic effects of growth hormone and insulin-like growth factor 1.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

In vivo transcript profiling and phylogenetic analysis identifies suppressor of cytokine signaling 2 as a direct signal transducer and activator of transcription 5b target in liver.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Characterization of distinct Stat5b binding sites that mediate growth hormone-stimulated IGF-I gene transcription

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Insulin-like growth factor-I treatment of growth disorders, diabetes mellitus and insulin resistance

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

The use of U-500 in patients with extreme insulin resistance

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Molecular physiology, pathology, and regulation of the growth hormone/insulin-like growth factor-I system

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Genotype-phenotype correlation in inherited severe insulin resistance

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Hypoglycemia and resistance to ketoacidosis in a subject without functional insulin receptors.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Major circadian variations of glucose homeostasis in a patient with Rabson-Mendenhall syndrome and primary insulin resistance due to a mutation (Cys284-->Tyr) in the insulin receptor alpha-subunit.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Homozygous deletion of the human insulin receptor gene results in leprechaunism

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Endocrine-metabolic relationships in patients with leprechaunism

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Insulin-like growth factor I receptor primary structure: comparison with insulin receptor suggests structural determinants that define functional specificity

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Recombinant human insulin-like growth factor I (rhIGF I) reduces hyperglycaemia in patients with extreme insulin resistance

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Donohue syndrome: A review of literature, case series, and anesthetic considerations.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Ten-year improvement of insulin resistance and growth with recombinant human insulin-like growth factor 1 in a patient with insulin receptor mutations resulting in leprechaunism.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Novel acid-labile subunit ( IGFALS ) mutation p.T145K (c.434C>A) in a patient with ALS deficiency, normal stature and immunological dysfunction.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Renal tubular dysfunction in patients with molecular defects of the insulin receptor gene.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Leprechaunism (Donohue syndrome): a case bearing novel compound heterozygous mutations in the insulin receptor gene

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

A novel leprechaunism mutation, Cys807Arg, in an Arab infant: a rare cause of hypoglycaemia

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

What is the best management strategy for patients with severe insulin resistance?

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Treatment with recombinant human insulin-like growth factor (rhIGF)-I/rhIGF binding protein-3 complex improves metabolic control in subjects with severe insulin resistance

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Beta-Cell hyperplasia induced by hepatic insulin resistance: role of a liver-pancreas endocrine axis through insulin receptor A isoform

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Dental and craniofacial characteristics in a patient with leprechaunism treated with insulin-like growth factor-I.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Retinal neovascularization during treatment with IGF-1 for insulin resistance syndrome

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Acute control of insulin-like growth factor-I gene transcription by growth hormone through Stat5b.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Decreased half-life of insulin-like growth factor I in Rabson-Mendenhall syndrome

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Progressive decline in insulin levels in Rabson-Mendenhall syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Short- and long-term metabolic effects of recombinant human IGF-I treatment in patients with severe insulin resistance and diabetes mellitus.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Trial of insulinlike growth factor I therapy for patients with extreme insulin resistance syndromes.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Treatment of type A insulin resistance with insulin-like growth factor-I.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Recombinant human insulin-like growth factor-I therapy improves glycemic control and insulin action in the type A syndrome of severe insulin resistance.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Beneficial metabolic effects of insulin-like growth factor I in patients with severe insulin-resistant diabetes type A.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Effect of intravenous insulin-like growth factor I in two patients with leprechaunism.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Acute response to recombinant insulin-like growth factor I in a patient with Mendenhall's syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5983765

Clinical uses of insulin-like growth factor I

30 November 2018

1 reference

12 December 2020

Congenital bilateral juvenile granulosa cell tumor of the ovary in leprechaunism: a case report

1 reference

12 December 2020

Early neonatal death in mice homozygous for a null allele of the insulin receptor gene

1 reference

12 December 2020

Insulin resistance associated with substitution of histidine for arginine 252 in the alpha-subunit of the human insulin receptor: trial of insulin-like growth factor I injection therapy to enhance insulin sensitivity

1 reference

12 December 2020

A homozygous kinase-defective mutation in the insulin receptor gene in a patient with leprechaunism

1 reference

12 December 2020

Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families

1 reference

12 December 2020

Long-term effect of recombinant human insulin-like growth factor I on metabolic and growth control in a patient with leprechaunism

1 reference

12 December 2020

Molecular physiology of IGF-I expression

1 reference

12 December 2020

Leprechaunism: a euphemism for a rare familial disorder

1 reference

12 December 2020

Mechanisms of growth hormone (GH) action. Identification of conserved Stat5 binding sites that mediate GH-induced insulin-like growth factor-I gene activation

1 reference

12 December 2020

In vivo regulation of growth hormone-stimulated gene transcription by STAT5b

1 reference

12 December 2020

Some effect of metformin on insulin resistance in an infant with leprechaunism

1 reference

12 December 2020

Long survival in Rabson-Mendenhall syndrome

1 reference

12 December 2020

A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney

1 reference

12 December 2020

Treatment of Diabetic Ketoacidosis With Intravenous U-500 Insulin in a Patient With Rabson-Mendenhall Syndrome: A Case Report

1 reference

12 December 2020

Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene

1 reference

12 December 2020

Identifiers

DOI

10.3390/IJMS19051268

1 reference

29 June 2018

PMCID

5983765

1 reference

29 June 2018

PubMed ID

29695048

1 reference

29 June 2018