20 research outputs found
Biallelic variants in KIF14 cause intellectual disability with microcephaly.
Kinesin proteins are critical for various cellular functions such as intracellular transport and cell division, and many members of the family have been linked to monogenic disorders and cancer. We report eight individuals with intellectual disability and microcephaly from four unrelated families with parental consanguinity. In the affected individuals of each family, homozygosity for likely pathogenic variants in KIF14 were detected; two loss-of-function (p.Asn83Ilefs*3 and p.Ser1478fs), and two missense substitutions (p.Ser841Phe and p.Gly459Arg). KIF14 is a mitotic motor protein that is required for spindle localization of the mitotic citron rho-interacting kinase, CIT, also mutated in microcephaly. Our results demonstrate the involvement of KIF14 in development and reveal a wide phenotypic variability ranging from fetal lethality to moderate developmental delay and microcephaly
Is there a role for sulphasalazine in axial spondyloarthritis in the era of TNF inhibition? Data from the NOR-DMARD longitudinal observational study
Pathophysiology and treatment of rheumatic disease
Predictors of ASDAS Major Improvement in Patients with Ankylosing Spondylitis Receiving Their First TNF Inhibitor. Results From a Longitudinal Observational Study
Pathophysiology and treatment of rheumatic disease
Selecting patients with ankylosing spondylitis for TNF inhibitor therapy: comparison of ASDAS and BASDAI eligibility criteria
Pathophysiology and treatment of rheumatic disease
Switching between TNF inhibitors in psoriatic arthritis: data from the NOR-DMARD study
Pathophysiology and treatment of rheumatic disease
The Role of CRP and Peripheral Disease in Achieving ASDAS Response to Anti-TNF Therapy in 397 Patients with Ankylosing Spondylitis
Pathophysiology and treatment of rheumatic disease