Further evidence for specific IFIH1 mutation as a cause of Singleton–Merten syndrome with phenotypic heterogeneity-Reference-Cited by-同舟云学术

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Further evidence for specific IFIH1 mutation as a cause of Singleton–Merten syndrome with phenotypic heterogeneity

Published:2017-03-20 Issue:5 Volume:173 Page:1396-1399
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Pettersson Maria¹²^ORCID,Bergendal Birgitta³⁴,Norderyd Johanna³⁴,Nilsson Daniel¹²⁵⁶,Anderlid Britt‐Marie¹²⁵,Nordgren Ann¹²⁵,Lindstrand Anna¹²⁵

Affiliation:

1. Department of Molecular Medicine and SurgeryKarolinska InstitutetStockholmSweden

2. Center for Molecular MedicineKarolinska InstitutetStockholmSweden

3. National Oral Disability Centre for Rare DisordersThe Institute for Postgraduate Dental EducationJönköpingSweden

4. School of Health and WelfareJönköping UniversityJönköpingSweden

5. Department of Clinical GeneticsKarolinska University HospitalStockholmSweden

6. Science for Life LaboratoryKarolinska Institutet Science ParkSolnaSweden

Funder

Kommunfullmäktige, Stockholms Stad

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38214

Reference17 articles.

1. Novel interferonopathies associated with mutations in RIG-I like receptors

2. Unusual cutaneous features associated with a heterozygous gain-of-function mutation inIFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes

3. Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia

4. Singleton-Merten syndrome: An autosomal dominant disorder with variable expression

5. Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency

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1. Bibliometric analysis of publications on genetic polymorphism and external apical root resorption research;Dental Press Journal of Orthodontics;2024

2. A zebrafish model of Ifih1-driven Aicardi–Goutières syndrome reproduces the interferon signature and the exacerbated inflammation of patients;Frontiers in Immunology;2023-11-24

3. Ruxolitinib altered IFN-β induced necroptosis of human dental pulp stem cells during osteoblast differentiation;Archives of Oral Biology;2023-11

4. Double-Stranded RNA Induces Mortality in an MDA5-Mediated Type I Interferonopathy Model;The Journal of Immunology;2022-12-01

5. Clinical Implications of a New DDX58 Pathogenic Variant That Causes Lupus Nephritis due to RIG-I Hyperactivation;Journal of the American Society of Nephrology;2022-10-19

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