Zobrazeno 1 - 10
of 368
pro vyhledávání: '"slco2a1"'
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-6 (2024)
Abstract Background The SLCO2A1 gene encodes a prostaglandin transporter and we report a novel mutation causing hypoproteinaemia and refractory anaemia due to chronic enteropathy. Case presentation An 18-year-old boy of consanguineous parents was inv
Externí odkaz:
https://doaj.org/article/80931ae53e6c4a70b101efbdc8063d09
Autor:
Qing Shang, Yimin Dai, Jingyi Huang, Wei Liu, Weixun Zhou, Yaping Liu, Hong Yang, Qiang Wang, Yue Li
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background and aims Chronic enteropathy associated with SLCO2A1 gene is a rare intestinal disease caused by loss-of-function SLCO2A1 mutations, with clinical and genetic characteristics remaining largely unknown, especially in Chinese patien
Externí odkaz:
https://doaj.org/article/513ecefc1fc34580b1bef24ae6d9e92e
Autor:
Jin Gyu Lim, Jae Sung Ko, Jung Min Ko, Hyun Young Kim, Man Jin Kim, Moon Woo Seong, Young Hun Choi, Gyeong Hoon Kang, Jaemoon Koh, Jin Soo Moon
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background Chronic enteropathy associated with SLCO2A1 gene (CEAS) is a unique type of inflammatory bowel disease. CEAS is monogenic disease and is thought to develop from childhood, but studies on pediatric CEAS are scarce. We analyzed char
Externí odkaz:
https://doaj.org/article/518ea443ccee481782bfb784e1c26644
Autor:
Yimin Dai, Miao He, Hui Xu, Bei Tan, Weixun Zhou, Wei Liu, Qiang Wang, Jingyi Huang, Qing Shang, Yaping Liu, Yue Li
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Chronic enteropathy associated with SLCO2A1 gene (CEAS) results from loss-of-function variants in SLCO2A1, which encodes the prostaglandin transporter (PGT). CEAS follows an autosomal recessive inheritance pattern. To date, approx
Externí odkaz:
https://doaj.org/article/93c396a2cede421f91aca5df5f3e8508
Autor:
Tamara A. M. Mocking, Wieke M. van Oostveen, Jacobus P. D. van Veldhoven, Hugo Minnee, Cynthia M. Fehres, Charles E. Whitehurst, Adriaan P. IJzerman, Laura H. Heitman
Publikováno v:
Frontiers in Pharmacology, Vol 15 (2024)
The prostaglandin transporter (PGT, SLCO2A1) mediates transport of prostanoids (a.o. prostaglandin E2 (PGE2)) into cells and thereby promotes their degradation. Overexpression of PGT leads to low extracellular PGE2 levels and has been linked to impai
Externí odkaz:
https://doaj.org/article/e0cc08e3ad25430fb31c87cdf54e7ca2
Publikováno v:
Central Asian Journal of Medical Hypotheses and Ethics, Vol 4, Iss 3, Pp 159-162 (2023)
Hypertrophic osteoarthropathy (HOA) is a condition characterized by aberrant skin and osseous tissue proliferation in the distal extremities. Mutations in the 15-hydroxyprostaglandin dehydrogenase gene (HPGD) and the soluble carrier organic anion car
Externí odkaz:
https://doaj.org/article/0a0c8c963d784ed19c456da4aba75fbf
Akademický článek
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 2, Pp 56-63 (2023)
Background. Primary hypertrophic osteoarthropathy is a rare genetically heterogeneous disease with three clinical variants. The classic one is a combination of hyperostosis, arthropathy and pachyderma and two variants with damage to only bone structu
Externí odkaz:
https://doaj.org/article/67b9abaafaef4aa5b80a81530076de31
Autor:
Rafaela Nicolau, Tiago Beirão, Francisca Guimarães, Francisca Aguiar, Sara Ganhão, Mariana Rodrigues, Ana Grangeia, Iva Brito
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-5 (2023)
Abstract 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
Externí odkaz:
https://doaj.org/article/a9b4361cf2a14cfa8078e11141a284eb