Associated Papers
Active site determinants of yeast Pah1 phosphatidate phosphatase activity and cellular functions.
Stukey GJ et al.
The Journal of Biological Chemistry, 2025
Lipin phosphatidic acid phosphatases: Structure, function, regulation, and disease association.
Welcome FS et al.
Advances in Biological Regulation, 2025
Clinical and genetic analysis of Majeed syndrome caused by LPIN2 complex heterozygous mutation and literature review.
Wang S et al.
Frontiers in Pediatrics, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Pediatric autoinflammatory bone disorders-a mini review with special focus on pathogenesis and inborn errors of immunity.
Hetrick R et al.
Frontiers in Pediatrics, 2023
Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature.
Chavan PP et al.
The Journal of Rheumatology, 2021
Novel Majeed Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis.
Bhuyan F et al.
Arthritis & Rheumatology (hoboken, N.j.), 2021
Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features.
Ferguson PJ et al.
Biomolecules, 2021
Crystal structure of a lipin/Pah phosphatidic acid phosphatase.
Khayyo VI et al.
Nature Communications, 2020
Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra.
Roy NBA et al.
Rheumatology (oxford, England), 2020
Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report.
Liu J et al.
Bmc Medical Genetics, 2019
Dramatic Response of Familial Majeed Syndrome to Interleukin-1 Antagonist Therapy: Case report.
Al Mosawi Z et al.
Archives of Rheumatology, 2019
Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease.
Beck DB et al.
Frontiers in Immunology, 2019
Update on the genetics of nonbacterial osteomyelitis in humans.
Cox AJ et al.
Current Opinion in Rheumatology, 2018
Clinical and genetic association, radiological findings and response to biological therapy in seven children from Qatar with non-bacterial osteomyelitis.
Moussa T et al.
International Journal of Rheumatic Diseases, 2017
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Martorana D et al.
Frontiers in Immunology, 2017
Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation.
Sanchez GA et al.
Rheumatic Diseases Clinics of North America, 2013
Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers.
Sharma M et al.
Current Opinion in Rheumatology, 2013
Efficacy of anti-IL-1 treatment in Majeed syndrome.
Herlin T et al.
Annals of the Rheumatic Diseases, 2013
Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitis.
Ferguson PJ et al.
Current Rheumatology Reports, 2012
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2011
A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2.
Donkor J et al.
The Journal of Biological Chemistry, 2009
The lipin family: mutations and metabolism.
Reue K
Current Opinion in Lipidology, 2009
Autoinflammatory syndromes with a dermatological perspective.
Kanazawa N et al.
The Journal of Dermatology, 2007
A splice site mutation confirms the role of LPIN2 in Majeed syndrome.
Al-Mosawi ZS et al.
Arthritis and Rheumatism, 2007
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).
Ferguson PJ et al.
Journal of Medical Genetics, 2005