Acromesomelic Dysplasia Maroteaux Type

Common Name(s)

Acromesomelic Dysplasia Maroteaux Type

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Acromesomelic Dysplasia Maroteaux Type" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Acromesomelic Dysplasia Maroteaux Type" returned 6 free, full-text research articles on human participants. First 3 results:

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

Author(s): Krista A Geister, Michelle L Brinkmeier, Minnie Hsieh, Susan M Faust, I Jill Karolyi, Joseph E Perosky, Kenneth M Kozloff, Marco Conti, Sally A Camper

Journal: Hum. Mol. Genet.. 2013 Jan;22(2):345-57.

 

We discovered a new spontaneous mutant allele of Npr2 named peewee (pwe) that exhibits severe disproportionate dwarfism and female infertility. The pwe phenotype is caused by a four base-pair deletion in exon 3 that generates a premature stop codon at codon 313 (L313X). The Npr2(pwe/pwe) ...

Last Updated: 20 Dec 2012

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

Author(s): Saadullah Khan, Raja Hussain Ali, Sanaullah Abbasi, Muhammad Nawaz, Noor Muhammad, Wasim Ahmad

Journal:

 

Natriuretic peptides (NPs) are peptide hormones that exert their biological actions by binding to three types of cell surface natriuretic peptide receptors (NPRs). The receptor NPR-B binding C-type natriuretic peptide (CNP) acts locally as a paracrine and/or autocrine regulator in ...

Last Updated: 27 Sep 2012

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

Author(s): Alistair N Hume, Jens Buttgereit, Aydah M Al-Awadhi, Sarah S Al-Suwaidi, Anne John, Michael Bader, Miguel C Seabra, Lihadh Al-Gazali, Bassam R Ali

Journal: Hum. Mol. Genet.. 2009 Jan;18(2):267-77.

 

Natriuretic peptides (NPs) comprise a family of structurally related but genetically distinct hormones that regulate a variety of physiological processes such as cardiac growth, blood pressure, axonal pathfinding and endochondral ossification leading to the formation of vertebrae ...

Last Updated: 22 Dec 2008

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Acromesomelic Dysplasia Maroteaux Type" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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