Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux (Q24655560)

8

0 references

Alistair N Hume

Alistair N Hume

1

0 references

Bassam R. Ali

Bassam R Ali

9

0 references

Miguel C. Seabra

Miguel C Seabra

7

0 references

Michael Bader

Michael Bader

6

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author name string

Jens Buttgereit

2

0 references

Aydah M Al-Awadhi

3

0 references

Sarah S Al-Suwaidi

4

0 references

Anne John

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

5

0 references

language of work or name

English

0 references

publication date

15 January 2009

0 references

published in

Human Molecular Genetics

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volume

18

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issue

2

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page(s)

267-77

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cites work

1 reference

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Structure of the type B human natriuretic peptide receptor gene and association of a novel microsatellite polymorphism with essential hypertension

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Natriuretic peptide receptor B signaling in the cardiovascular system: protection from cardiac hypertrophy

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

7 April 2017

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Cardiac hypertrophy in transgenic rats expressing a dominant-negative mutant of the natriuretic peptide receptor B.

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Degradation of CFTR by the ubiquitin-proteasome pathway

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The receptor guanylyl cyclase Npr2 is essential for sensory axon bifurcation within the spinal cord.

7 April 2017

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Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions

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

28 September 2017

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A cure for traffic jams: small molecule chaperones in the endoplasmic reticulum

28 September 2017

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Cyclic GMP-dependent protein kinase II is a molecular switch from proliferation to hypertrophic differentiation of chondrocytes

28 September 2017

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Therapeutic approaches to protein-misfolding diseases

28 September 2017

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28 September 2017

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Significance of C-type natriuretic peptide (CNP) in endochondral ossification: analysis of CNP knockout mice

28 September 2017

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Natriuretic peptide signalling: molecular and cellular pathways to growth regulation

28 September 2017

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A genetic model provides evidence that the receptor for atrial natriuretic peptide (guanylyl cyclase-A) inhibits cardiac ventricular myocyte hypertrophy

28 September 2017

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Identification and characterization of the phosphorylation sites of the guanylyl cyclase-linked natriuretic peptide receptors A and B.

28 September 2017

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Conformational maturation of CFTR but not its mutant counterpart (delta F508) occurs in the endoplasmic reticulum and requires ATP

28 September 2017

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Salt-resistant hypertension in mice lacking the guanylyl cyclase-A receptor for atrial natriuretic peptide

28 September 2017

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Natriuretic peptide regulation of endochondral ossification. Evidence for possible roles of the C-type natriuretic peptide/guanylyl cyclase-B pathway.

28 September 2017

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Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.

30 May 2018

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Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.

28 November 2018

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

28 November 2018

1 reference

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ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome.

28 November 2018

1 reference

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Rat corin gene: molecular cloning and reduced expression in experimental heart failure

28 November 2018

1 reference

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Multiple proteolytic systems, including the proteasome, contribute to CFTR processing.

28 November 2018

1 reference

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Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins

28 November 2018

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

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18945719

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Localization by photoaffinity labeling of natriuretic peptide receptor-A binding domain

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18945719

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Intestinal Secretory Defects and Dwarfism in Mice Lacking cGMP-Dependent Protein Kinase II

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18945719