(Q24301466)

English

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

scientific article published on January 1, 1992

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scholarly article

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

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arginine vasopressin

1 reference

GOA release 2020-03-11

cell-cell signaling

1 reference

GOA release 2020-03-11

diabetes insipidus

1 reference

based on heuristic

inferred from title

neurohypophyseal diabetes insipidus

1 reference

based on heuristic

inferred from title

author name string

U. Bahnsen

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1740104

13 November 2022

P. Oosting

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1740104

13 November 2022

D. F. Swaab

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1740104

13 November 2022

P. Nahke

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1740104

13 November 2022

D. Richter

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1740104

13 November 2022

H. Schmale

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1740104

13 November 2022

language of work or name

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publication date

January 1992

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full work available at URL

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1740104/?tool=EBI

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1740104

13 November 2022

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1740104/pdf/?tool=EBI

Portable Document Format

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1740104

13 November 2022

https://europepmc.org/articles/PMC556420

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1740104

13 November 2022

https://europepmc.org/articles/PMC556420?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1740104

13 November 2022

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fj.1460-2075.1992.tb05022.x

1 reference

10.1002/J.1460-2075.1992.TB05022.X

https://api.crossref.org/works/10.1002/J.1460-2075.1992.TB05022.X

13 November 2022

http://onlinelibrary.wiley.com/wol1/doi/10.1002/j.1460-2075.1992.tb05022.x/fullpdf

1 reference

10.1002/J.1460-2075.1992.TB05022.X

https://api.crossref.org/works/10.1002/J.1460-2075.1992.TB05022.X

13 November 2022

The EMBO Journal

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11

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1

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19-23

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Molecular Analysis of 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=556420

19 March 2017

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=556420

19 March 2017

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=556420

19 March 2017

Empirical Predictions of Protein Conformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=556420

19 March 2017

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=556420

19 March 2017

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=556420

19 March 2017

Hybridization probe size control: optimized 'oligolabelling'.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=556420

27 September 2017

Biosynthetic protein transport and sorting by the endoplasmic reticulum and Golgi

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=556420

27 September 2017

Structure, processing and evolution of the neurohypophysial hormone-neurophysin precursors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=556420

27 September 2017

Direct cloning of specific genomic DNA sequences in plasmid libraries following fragment enrichment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=556420

27 September 2017

Molecular events in expression of vasopressin and oxytocin and their cognate receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=556420

27 September 2017

Familial amyloidotic polyneuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=556420

27 September 2017

Molecular, thermodynamic, and biological aspects of recognition and function in neurophysin-hormone systems: a model system for the analysis of protein-peptide interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=556420

27 September 2017

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=556420

27 September 2017

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=556420

27 September 2017

Single base deletion in the vasopressin gene is the cause of diabetes insipidus in Brattleboro rats.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=556420

30 May 2018

Molecular properties of the oxytocin/bovine neurophysin biosynthetic precursor. Studies using a semisynthetic precursor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=556420

30 May 2018

The supraoptic and paraventricular nuclei of the human hypothalamus in relation to sex, age and Alzheimer's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=556420

30 May 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=556420

29 November 2018

Dominant inheritance of diabetes insipidus; a family study

1 reference

https://pubmed.ncbi.nlm.nih.gov/1740104

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/1740104

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/1740104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impact of altered protein structures on the intracellular traffic of a mutated vasopressin precursor from Brattleboro rats

1 reference

https://pubmed.ncbi.nlm.nih.gov/1740104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of genomic DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1740104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two cases of hereditary diabetes insipidus, with an autopsy finding in one

1 reference

https://pubmed.ncbi.nlm.nih.gov/1740104

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/1740104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/J.1460-2075.1992.TB05022.X

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1740104

13 November 2022

PMC publication ID

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PubMed publication ID

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