Results 51 to 60 of about 414,639 (252)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
Retractions in Rheumatology: Trends, Causes, and Implications for Research Integrity
Arthritis Care &Research, EarlyView.Objective We aimed to describe the trends and main reasons for study retraction in rheumatology literature. Methods We reviewed the Retraction Watch database to identify retracted articles in rheumatology. We recorded the main study characteristics, authors’ countries, reasons for retraction, time from publication to retraction, and trends over time ...
Anna Maria Vettori, Michele Iudici
wiley +1 more source
A Study of Chinese Painters and Paintings in View of Japanese Medieval Records [PDF]
, 2012 Along with the deepening cultural communication between Japan and China, theexchange of painting and calligraphy has been the subject of much academic scrutiny.This paper will study Chinese painters and paintings through an historical examination of the ...
寿 舒舒
core +1 more source
Japanese wives in Japanese-Australian intermarriages [PDF]
, 2009 The diasporic experiences of Japanese partners married to Australians and living in Australia are largely unexamined. This article is based on a study, conducted for an honours thesis, which invited four Japanese wives living in South East Queensland to ...
Denman, Jared
core +2 more sources
Arthritis Care &Research, EarlyView.Objective Clinical response to mycophenolic acid (MPA) is highly heterogeneous; thus, therapeutic drug level monitoring (TDM) may help improve treatment efficacy. This systematic review and meta‐analysis examined therapeutic ranges for MPA levels associated with better outcomes and safety in patients with systemic lupus erythematosus (SLE ...
Zahraa Qamhieh +5 more
wiley +1 more source
ReligionsThis study examines the symbolic ambiguity of Buddhist robes in the Heian period, focusing particularly on their representation in The Tale of Genji. While Buddhist monastic garments traditionally signify religious renunciation, they also functioned as ...
Hyosook Kim
doaj +1 more source