| Title |
Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects
|
|---|---|
| Published in |
Child's Nervous System, April 2016
|
| DOI | 10.1007/s00381-016-3087-1 |
| Pubmed ID | |
| Authors |
La Carpia Francesca, Rendeli Claudia, Clelia Molinario, Milillo Annamaria, Farroni Chiara, Cannelli Natalia, Ausili Emanuele, Paolucci Valentina, Neri Giovanni, Romagnoli Costantino, Sangiorgi Eugenio, Gurrieri Fiorella |
| Abstract |
Neural tube defects (NTDs) occur in 1:1000 births. The etiology is complex, with the influence of environmental and genetic factors. Environmental factors, such as folate deficiency, diabetes, or hypoxia strongly contribute to the occurrence of NTD. Also, there is a strong genetic contribution to NTD, as highlighted by the number of genes so far identified in several different developmental pathways usually altered in NTD. Each gene identified so far accounts for a small percentage of all NTD cases, indicating a very high heterogeneity. Exome sequencing was performed in seven sporadic patients with severe mielomeningocele. Novel coding variants shared by two or more patients were selected for further analysis. We identified in two unrelated patients two different variants in TNIP1, a gene not previously involved in NTD whose main role is downregulation of the NF-kB pathway. One variant, c.1089T>G (p.Phe363Leu), is de novo, whereas the c.1781C>T (p.Pro594Leu) is absent in the mother, but could not be tested in the father, as he was unavailable. The latter variant is a very rare variant in the ExAC database. These findings suggest that TNIP1 is a new potential predisposing gene to spina bifida (SB) and its pathway needs to be investigated in human NTD in order to confirm its role and to plan appropriate counseling to families. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 50% |
| Science communicators (journalists, bloggers, editors) | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 14 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Doctoral Student | 2 | 14% |
| Student > Bachelor | 2 | 14% |
| Lecturer | 1 | 7% |
| Professor | 1 | 7% |
| Student > Ph. D. Student | 1 | 7% |
| Other | 2 | 14% |
| Unknown | 5 | 36% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 4 | 29% |
| Linguistics | 1 | 7% |
| Immunology and Microbiology | 1 | 7% |
| Psychology | 1 | 7% |
| Medicine and Dentistry | 1 | 7% |
| Other | 0 | 0% |
| Unknown | 6 | 43% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 01 May 2016.
All research outputs
#17,800,994
of 22,867,327 outputs
Outputs from Child's Nervous System
#1,207
of 2,756 outputs
Outputs of similar age
#205,039
of 299,116 outputs
Outputs of similar age from Child's Nervous System
#19
of 74 outputs
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So far Altmetric has tracked 2,756 research outputs from this source. They receive a mean Attention Score of 1.9. This one is in the 48th percentile – i.e., 48% of its peers scored the same or lower than it.
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We're also able to compare this research output to 74 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 64% of its contemporaries.