ArticlePloS one2013
Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 36 citations in OpenAlex.
- Pharmacological and Genetic Disruption of C-Type Natriuretic Peptide (International journal of molecular sciences · 2023Article
- DIS3L2 knockdown impairs key oncogenic properties of colorectal cancer cells via the mTOR signaling pathway.Cellular and molecular life sciences : CMLS · 2023Article
- How hydrolytic exoribonucleases impact human disease: Two sides of the same story.FEBS open bio · 2023Review
- Article
- Identifying therapeutic drug targets using bidirectional effect genes.Nature communications · 2021Article
- Natriuretic Peptide Expression and Function in GH3 Somatolactotropes and Feline Somatotrope Pituitary Tumours.International journal of molecular sciences · 2021Article
- Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes.Frontiers in genetics · 2021Article
- Dis3L2 regulates cell proliferation and tissue growth through a conserved mechanism.PLoS genetics · 2020Article
- C-type natriuretic peptide stimulates osteoblastic proliferation and collagen-X expression but suppresses fibroblast growth factor-23 expression in vitro.Pediatric rheumatology online journal · 2020Article
- De novo 2q36.3q37.1 deletion encompassingHuman genome variation · 2020Article
- P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development.Bioscience reports · 2019Article
- Review
- Replication and discovery of musculoskeletal QTLs in LG/J and SM/J advanced intercross lines.Physiological reports · 2018Article
- Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female.Journal of bone metabolism · 2017Article
- A novel role for the 3'-5' exoribonuclease Dis3L2 in controlling cell proliferation and tissue growth.RNA biology · 2016Article
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Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Coordinated bone growth is controlled by numerous mechanisms which are only partially understood because of the involvement of many hormones and local regulators. The C-type Natriuretic Peptide (CNP), encoded by NPPC gene located on chromosome 2q37.1, is a molecule that regulates endochondral ossification of the cartilaginous growth plate and influences longitudinal bone growth. Two independent studies have described three patients with a Marfan-like phenotype presenting a de novo balanced translocation involving the same chromosomal region 2q37.1 and overexpression of NPPC. We report on two partially overlapping interstitial 2q37 deletions identified by array CGH. The two patients showed opposite phenotypes characterized by short stature and skeletal overgrowth, respectively. The patient with short stature presented a 2q37 deletion causing the loss of one copy of the NPPC gene and the truncation of the DIS3L2 gene with normal CNP plasma concentration. The deletion identified in the patient with a Marfan-like phenotype interrupted the DIS3L2 gene without involving the NPPC gene. In addition, a strongly elevated CNP plasma concentration was found in this patient. A possible role of NPPC as causative of the two opposite phenotypes is discussed in this study.
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