(Q35882453)

English

Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus

scientific article published in January 1996

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554046%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554046%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

0 references

diabetes insipidus

1 reference

based on heuristic

inferred from title

neurohypophyseal diabetes insipidus

1 reference

based on heuristic

inferred from title

author name string

Rittig S

1

1 reference

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14 October 2019

Robertson GL

2

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14 October 2019

Siggaard C

3

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14 October 2019

Kovács L

4

1 reference

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14 October 2019

Gregersen N

5

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14 October 2019

Nyborg J

6

1 reference

Europe PubMed Central

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14 October 2019

Pedersen EB

7

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14 October 2019

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publication date

1 January 1996

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14 October 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

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14 October 2019

58

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14 October 2019

1

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14 October 2019

107-117

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554046%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Heat-shock proteins as molecular chaperones

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Sorting and processing of secretory proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

DnaJ-like proteins: molecular chaperones and specific regulators of Hsp70.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Protein folding and the regulation of signaling pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

The use of vasopressin assays in physiology and pathophysiology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

The modification and assembly of proteins in the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Vasopressin function in familial cranial diabetes insipidus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Hereditary central diabetes insipidus: plasma levels of antidiuretic hormone in a family with a possible osmoreceptor defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Effect of indapamide on renal plasma flow, glomerular filtration rate and arginine vasopressin in plasma in essential hypertension

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Nucleotide sequence of cloned cDNA encoding bovine arginine vasopressin–neurophysin II precursor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Familial ADH-responsive diabetes insipidus: response to thiazides and chlorpropamide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Development and Clinical Application of a New Method for the Radioimmunoassay of Arginine Vasopressin in Human Plasma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Expression of the vasopressin and oxytocin genes in human hypothalami

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

SEC11 is required for signal peptide processing and yeast cell growth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Maturation of Escherichia coli maltose-binding protein by signal peptidase I in vivo. Sequence requirements for efficient processing and demonstration of an alternate cleavage site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

The distribution of physical, chemical and conformational properties in signal and nascent peptides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Crystal structure of a bovine neurophysin II dipeptide complex at 2.8 A determined from the single-wavelength anomalous scattering signal of an incorporated iodine atom

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Functional limits of conformation, hydrophobicity, and steric constraints in prokaryotic signal peptide cleavage regions. Wild type transport by a simple polymeric signal sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Proteolysis in protein import and export: Signal peptide processing in eu-and prokaryotes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Signal peptidases in prokaryotes and eukaryotes--a new protease family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Inhibition by acidic phospholipids of protein degradation by ER-60 protease, a novel cysteine protease, of endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

Misfolding and aggregation of newly synthesized proteins in the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

27 July 2018

HEREDITARY IDIOPATHIC DIABETES INSIPIDUS. A CASE REPORT WITH AUTOPSY FINDINGS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

24 September 2018

Membrane topology and biogenesis of eukaryotic signal peptidase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

24 September 2018

Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

24 September 2018

Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

24 September 2018

Heredtary and idiopathic types of diabetes insipidus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

24 September 2018

Familial cranial diabetes insipidus: a report of five families. Genetic, diagnostic and therapeutic aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914959

24 September 2018

Radioimmunoassay of vasopressin in familial cental diabetes insipidus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial diabetes insipidus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma vasopressin in hereditary cranial diabetes insipidus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A family with congenital hypothalamic neurohypophyseal diabetes insipidus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural features in the NH2-terminal region of a model eukaryotic signal peptide influence the site of its cleavage by signal peptidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The endoplasmic reticulum as a protein-folding compartment

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alterations in the cleavage site of the signal sequence for the secretion of human lysozyme by Saccharomyces cerevisiae

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A de novo mutation in the coding sequence for neurophysin-II (Pro24-->Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

How signal sequences maintain cleavage specificity

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dominant inheritance of diabetes insipidus; a family study

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Miscleavage at the presequence of rat preprolactin synthesized in pituitary cells incubated with a threonine analog

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary diabetes insipidus: report of 20 cases in seven generations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial central diabetes insipidus: vasopressin and nicotine stimulated neurophysin deficiency with subnormal oxytocin and estrogen stimulated neurophysin

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosomal assignment of human sequences encoding arginine vasopressin-neurophysin II and growth hormone releasing factor

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Substrate specificity of eukaryotic signal peptidase. Site-saturation mutagenesis at position -1 regulates cleavage between multiple sites in human pre (delta pro) apolipoprotein A-II

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Dominant heredity of diabetes insipidus caused by pitressin deficiency]

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Changes in tissue sensitivity to vasopressin in hereditary hypothalamic diabetes insipidus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554046%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554046%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

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