LPIN2-related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature

Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features

(2021) Polly J. Ferguson et al.   Biomolecules

Majeed syndrome – Five cases with novel mutations from unrelated families in India with a review of literature

(2021) Pallavi Pimpale Chavan et al.   JOURNAL OF RHEUMATOLOGY

Dramatic Response of Familial Majeed Syndrome to Interleukin-1 Antagonist Therapy: Case report

(2019) Zakiya Al Mosawi   Archives of Rheumatology

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

(2018) Katta M. Girisha et al.   HUMAN MUTATION

Lipin-2 regulates NLRP3 inflammasome by affecting P2X 7 receptor activation

(2016) Gema Lordén et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Phenotypic Variability in Majeed Syndrome

(2016) A. P. RAO et al.   JOURNAL OF RHEUMATOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Thematic Review Series: Glycerolipids.Multiple roles for lipins/phosphatidate phosphatase enzymes in lipid metabolism

(2008) Karen Reue et al.   JOURNAL OF LIPID RESEARCH