| Title |
Unraveling the genetic component of systemic sclerosis
|
|---|---|
| Published in |
Human Genetics, January 2012
|
| DOI | 10.1007/s00439-011-1137-z |
| Pubmed ID | |
| Authors |
José Ezequiel Martín, Lara Bossini-Castillo, Javier Martín |
| Abstract |
Systemic sclerosis (SSc) is a severe connective tissue disorder characterized by extensive fibrosis, vascular damage, and autoimmune events. During the last years, the number of genetic markers convincingly associated with SSc has exponentially increased. In this report, we aim to offer an updated review of the classical and novel genetic associations with SSc, analyzing the firmest and replicated signals within HLA and non-HLA genes, identified by both candidate gene and genome-wide association (GWA) studies. We will also provide an insight into the future perspectives and approaches that might shed more light into the complex genetic background underlying SSc. In spite of the remarkable advance in the field of SSc genetics during the last decade, the use of the new genetic technologies such as next generation sequencing (NGS), as well as the deep phenotyping of the study cohorts, to fully characterize the genetic component of this disease is imperative. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Australia | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 44 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 2% |
| United States | 1 | 2% |
| United Arab Emirates | 1 | 2% |
| Unknown | 41 | 93% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 8 | 18% |
| Student > Bachelor | 7 | 16% |
| Student > Ph. D. Student | 6 | 14% |
| Student > Master | 4 | 9% |
| Other | 2 | 5% |
| Other | 3 | 7% |
| Unknown | 14 | 32% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 14 | 32% |
| Agricultural and Biological Sciences | 6 | 14% |
| Biochemistry, Genetics and Molecular Biology | 4 | 9% |
| Nursing and Health Professions | 1 | 2% |
| Immunology and Microbiology | 1 | 2% |
| Other | 3 | 7% |
| Unknown | 15 | 34% |
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 06 January 2012.
All research outputs
#18,303,566
of 22,661,413 outputs
Outputs from Human Genetics
#2,690
of 2,948 outputs
Outputs of similar age
#195,188
of 243,401 outputs
Outputs of similar age from Human Genetics
#14
of 18 outputs
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