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

Saadullah Khan | Raja Hussain Ali | Sanaullah Abbasi | Muhammad Nawaz | Noor Muhammad | Wasim Ahmad
BMC medical genetics | 2012

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 a wide variety of tissues. Mutations in the gene NPR2 have been shown to cause acromesomelic dysplasia-type Maroteaux (AMDM), an autosomal recessive skeletal disproportionate dwarfism disorder in humans.

Pubmed ID: 22691581

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This is a list of tools and resources that we have found mentioned in this publication.


Primer3 (tool)

RRID:SCR_003139

Tool used to design PCR primers from DNA sequence - often in high-throughput genomics applications. It does everything from mispriming libraries to sequence quality data to the generation of internal oligos.

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NCBI (tool)

RRID:SCR_006472

A portal to biomedical and genomic information. NCBI creates public databases, conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information for the better understanding of molecular processes affecting human health and disease.

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BioEdit (tool)

RRID:SCR_007361

Software tool as biological sequence alignment editor written for Windows 95/98/NT/2000/XP/7 and sequence analysis program. Provides sequence manipulation and analysis options and links to external analysis programs to view and manipulate sequences with simple point and click operations.

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BLAST Assembled RefSeq Genomes (tool)

RRID:SCR_008420

This portal takes you to the NCBI''s BLAST Assembled RefSeq Genomes. The Basic Local Alignment Search Tool (BLAST) finds regions of local similarity between sequences. The program compares nucleotide or protein sequences to sequence databases and calculates the statistical significance of matches. BLAST can be used to infer functional and evolutionary relationships between sequences as well as help identify members of gene families. Sponsors: This resource is supported by the National Institutes of Health. Keywords: BLAST, Genome, Search engine, Sequence, Biological, Local, Alignment, Nucleotide, Protein, Program, Database, Stastical, Functional, Evolutionaary, Gene,

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PolyPhen: Polymorphism Phenotyping (tool)

RRID:SCR_013189

Software tool which predicts possible impact of amino acid substitution on structure and function of human protein using straightforward physical and comparative considerations. PolyPhen-2 is new development of PolyPhen tool for annotating coding nonsynonymous SNPs.

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