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A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative DiseaseWe have revealed a novel SH2D1A gene mutation in a patient with XLP resulting in fulminant refractory EBV-driven HLH, which is a recognized severe complication
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Inflammatory bowel diseases: interrelationships between dietary vitamin D, exposure to UV radiation and the fecal microbiomeThis review explores the interaction of vitamin D, and ultraviolet radiation, with the intestinal innate and adaptive immune systems
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Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International PerspectiveThe Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children
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QuantSeq. 3′ Sequencing combined with Salmon provides a fast, reliable approach for high throughput RNA expression analysisQuantSeq, coupled with a fast quantification method such as Salmon, should provide a viable alternative to traditional RNA-Seq in many applications
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Allograft outcome following repeat transplantation of patients with non-adherence-related first kidney allograft failure: a population cohort studyThe associations between causes of first allograft failure and acute rejection-related and non-adherence-related allograft failure following re-transplantation
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PTPN2 phosphatase deletion in T cells promotes anti-tumour immunity and CAR T-cell efficacy in solid tumoursOur findings define PTPN2 as a target for bolstering T-cell-mediated anti-tumour immunity and CAR T-cell therapy against solid tumours.
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Genome mining and characterisation of a novel transaminase with remote stereoselectivityHere we report a novel ω-transaminase discovered in a marine sponge Pseudovibrio sp. isolate
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Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency DisorderCDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder.
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The impact of pre-pregnancy body mass index and gestational weight gain on placental abruption risk: a systematic review and meta-analysisMothers that are underweight prior to or in early pregnancy are at a moderately increased risk of placental abruption
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Standardization of Spirometry 2019 Update. An Official American Thoracic Society and European Respiratory Society Technical StatementStandards and consensus recommendations are presented for manufacturers, clinicians, operators, and researchers