(Q30359787)

English

A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type (English)

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

acromesomelic dysplasia, Maroteaux type

0 references

Sally A. Camper

object named as

Sally A Camper

9

0 references

author name string

Krista A Geister

1

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Michelle L Brinkmeier

2

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Minnie Hsieh

3

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Susan M Faust

4

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

I Jill Karolyi

5

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Joseph E Perosky

6

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Kenneth M Kozloff

7

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Marco Conti

8

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

publication date

12 October 2012

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

22

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

345-357

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Exome sequencing identifies PDE4D mutations in acrodysostosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Guanylyl cyclase structure, function and regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

The skeleton: a multi-functional complex organ: the growth plate chondrocyte and endochondral ossification.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Pilot study of PD-0325901 in previously treated patients with advanced melanoma, breast cancer, and colon cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

A MEK inhibitor abrogates myeloproliferative disease in Kras mutant mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Granulosa cell ligand NPPC and its receptor NPR2 maintain meiotic arrest in mouse oocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Signaling Pathways in Human Skeletal Dysplasias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Gastrointestinal tract disorder in natriuretic peptide receptor B gene mutant mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

A phase II study of PD-0325901, an oral MEK inhibitor, in previously treated patients with advanced non-small cell lung cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Response and resistance to MEK inhibition in leukaemias initiated by hyperactive Ras

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Towards a new understanding on the regulation of mammalian oocyte meiosis resumption

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

FGFs in endochondral skeletal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Molecular characterisation and functional interrogation of a local natriuretic peptide system in rodent pituitaries, alphaT3-1 and LbetaT2 gonadotroph cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Genetic control of bone formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Assessing reproductive status/stages in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Cyclic GMP signaling is involved in the luteinizing hormone-dependent meiotic maturation of mouse oocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

The signal pathway of gonadotrophins-induced mammalian oocyte meiotic resumption.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Cyclic GMP from the surrounding somatic cells regulates cyclic AMP and meiosis in the mouse oocyte

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Achondroplasia: manifestations and treatment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Systemic administration of C-type natriuretic peptide as a novel therapeutic strategy for skeletal dysplasias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

BMP canonical Smad signaling through Smad1 and Smad5 is required for endochondral bone formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

The biology of infertility: research advances and clinical challenges

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

The discovery of the benzhydroxamate MEK inhibitors CI-1040 and PD 0325901.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Pubertal development and menarche

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Cellular and molecular aspects of ovarian follicle ageing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Luteinizing hormone signaling in preovulatory follicles involves early activation of the epidermal growth factor receptor pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

The receptor attributable to C-type natriuretic peptide-induced differentiation of osteoblasts is switched from type B- to type C-natriuretic peptide receptor with aging

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

C-type natriuretic peptide regulates endochondral bone growth through p38 MAP kinase-dependent and -independent pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Ovarian follicle development and transgenic mouse models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Stops and starts in mammalian oocytes: recent advances in understanding the regulation of meiotic arrest and oocyte maturation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

BRAF mutation predicts sensitivity to MEK inhibition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Premature ovarian aging in mice deficient for Gpr3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

IGF-1 in the brain as a regulator of reproductive neuroendocrine function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

A loss-of-function mutation in natriuretic peptide receptor 2 (Npr2) gene is responsible for disproportionate dwarfism in cn/cn mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Critical roles of the guanylyl cyclase B receptor in endochondral ossification and development of female reproductive organs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

The consequences of altered somatotropic system on reproduction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Genetic dissection of mammalian fertility pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

C-type natriuretic peptide: an important neuroendocrine regulator?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817088

3 June 2018

Nosology and classification of genetic skeletal disorders: 2010 revision.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS432

21 January 2018

Turner's Syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS432

21 January 2018

Short-limbed dwarfism: slw is a new allele of Npr2 causing chondrodysplasia.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS432

21 January 2018

RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS432

21 January 2018

Lack of HIF-2α in limb bud mesenchyme causes a modest and transient delay of endochondral bone development

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS432

21 January 2018

NPPC/NPR2 signaling is essential for oocyte meiotic arrest and cumulus oophorus formation during follicular development in the mouse ovary

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS432

21 January 2018

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS432

21 January 2018

Development of the post-natal growth plate requires intraflagellar transport proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS432

21 January 2018

Persistent Prop1 expression delays gonadotrope differentiation and enhances pituitary tumor susceptibility.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS432

21 January 2018

Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway

1 reference

https://pubmed.ncbi.nlm.nih.gov/23065701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

C-type natriuretic peptide enhances osteogenic protein-1-induced osteoblastic cell differentiation via Smad5 phosphorylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/23065701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization and distribution of natriuretic peptide receptors in the rat uterus

1 reference

https://pubmed.ncbi.nlm.nih.gov/23065701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The skeletal dysplasias

1 reference

https://pubmed.ncbi.nlm.nih.gov/23065701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nosology and classification of genetic skeletal disorders: 2006 revision

1 reference

https://pubmed.ncbi.nlm.nih.gov/23065701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDS432

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q30359787&oldid=1956955436"