Results 41 to 50 of about 2,152 (193)
Attenuated expression of SLCO2A1 caused by DNA methylation in pediatric inflammatory bowel disease [PDF]
, 2022 順天堂大学博士（医学）2021年度doctoral ...
イトウ, ナツキ, 伊藤, 夏希
core +1 more source
BMC Pediatrics, 2020 Background SLCO2A1 was recently reported to cause nonspecific ulcers at small bowel, it was named as chronic enteropathy associated with SLCO2A1 (CEAS). It was rarely reported beyond the Japanese population.
Youhong Fang +3 more
doaj +1 more source
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type [PDF]
, 2016 Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), is likely the most common systemic heritable connective tissue disorder, and is mostly recognized by generalized joint hypermobility, joint instability complications ...
Carini, Giulia +7 more
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Clinical and molecular features of thiazide-induced hyponatremia [PDF]
, 2018 Hypertension affects more than 30% of the world’s adult population and thiazide (and thiazide-like) diuretics are amongst the most widely used, effective and least costly treatments available, with all-cause mortality benefits equivalent to ACE ...
Channavajjhala, Sarath K. +5 more
core +2 more sources
Pediatric Rheumatology Online Journal, 2023 Background Primary Hypertrophic Osteoarthropathy (PHO), also known as Touraine-Solente-Gole Syndrome, is a rare, multisystemic autosomal recessive disorder caused by pathogenic variants in the 15-hydroxyprostaglandin dehydrogenase (HPGD) or Solute ...
Rafaela Nicolau +7 more
doaj +1 more source
Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey
JCRPE, 2022 Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy, is a rare genetic disorder characterized by pachyderma and periostosis.
Emine Kartal Baykan, Ayberk Türkyılmaz
doaj +1 more source
Pachydermoperiostosis: a case report
Остеопороз и остеопатии, 2017 Pachydermoperiostosis (PHO) or primary hypertrophic osteoarthropathy is a rare genetic disease that typically begins during childhood or adolescence. It is characterized by digital clubbing, pachydermia and periosteal reaction and progresses gradually ...
Valentina A. Fursenko +3 more
doaj +1 more source
Complete form of pachydermoperiostosis in a 16-year-old boy: A case report
Indian Journal of Paediatric Dermatology, 2022 Pachydermoperiostosis is an inherited osseocutaneous disorder. The unusual increased levels of prostaglandin E2 due to mutations in either HPGD gene or SLCO2A1 gene are regarded as the causative factor.
Sahana M Srinivas +3 more
doaj +1 more source
Charcot-Marie-Tooth gene, SBF2, associated with taxaneinduced peripheral neuropathy in African Americans [PDF]
, 2016 PURPOSE: Taxane-induced peripheral neuropathy (TIPN) is one of the most important survivorship issues for cancer patients. African Americans (AA) have previously been shown to have an increased risk for this toxicity.
Foroud, Tatiana +12 more
core +1 more source
Pathogenesis of chronic enteropathy associated with the SLCO2A1 gene: Hypotheses and conundrums. [PDF]
World J GastroenterolChronic enteropathy associated with the SLCO2A1 gene (CEAS) is a complex gastroenterological condition characterized by multiple ulcers in the small intestine with chronic bleeding and protein loss. This review explores the potential mechanisms underlying the pathogenesis of CEAS, focusing on the role of SLCO2A1 -encoded prostaglandin transporter ...
Xie ZX, Li Y, Yang AM, Wu D, Wang Q.
europepmc +3 more sources