Results 31 to 40 of about 1,479 (176)

Pachydermoperiostosis Associated With a Rare SLCO2A1 Mutation: A Case Report and Literature Review. [PDF]

Cureus
Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy, is a rare genetic disorder characterized by digital clubbing, periostosis, and pachydermia. It typically presents during adolescence or early adulthood and is commonly associated with mutations in the HPGD or SLCO2A1 genes. Due to its nonspecific clinical features, PDP is
Mohammad M, Alnajjar Y, Jondi E, Alsheikh M, Darras A, Hamamdah A, Itmaizeh M.   +6 more
europepmc   +4 more sources

Contribution of Prostaglandin Transporter OATP2A1/SLCO2A1 to Placenta-to-Maternal Hormone Signaling and Labor Induction

iScience, 2020
Summary: We evaluated the contribution of organic anion transporting polypeptide 2A1 (OATP2A1/SLCO2A1), a high-affinity carrier for prostaglandins (PGs), to the parturition process. At gestational day (GD) 15.5, OATP2A1 is co-localized with 15-hydroxy-PG
Mai Inagaki, Tomohiro Nishimura, Takeo Nakanishi, Hiroaki Shimada, Saki Noguchi, Shin-ichi Akanuma, Masanori Tachikawa, Ken-ichi Hosoya, Ikumi Tamai, Emi Nakashima, Masatoshi Tomi   +10 more
doaj   +1 more source

SLCO2A1 mutation-mediated vascular endothelial cell dysfunction contributes to chronic enteropathy(CEAS) development and progression [PDF]

Jichu yixue yu linchuang
Objective To investigate the pathogenic mechanism of chronic enteropathy associated with SLCO2A1 with SLCO2A1 gene(CEAS), a hereditary disease caused by SLCO2A1 mutations, and to provide theoretical insight into potential therapeutic strategies.
ZHANG Yiyao, YUN Longxi, HUANG Jingyi, LI Xiaoyu, YUAN Jingyi, LI Yue, LIU Changzheng
doaj   +1 more source

The ATP-Releasing Maxi-Cl Channel: Its Identity, Molecular Partners, and Physiological/Pathophysiological Implications

Life, 2021
The Maxi-Cl phenotype accounts for the majority (app. 60%) of reports on the large-conductance maxi-anion channels (MACs) and has been detected in almost every type of cell, including placenta, endothelium, lymphocyte, cardiac myocyte, neuron, and glial ...
Ravshan Z. Sabirov, Md. Rafiqul Islam, Toshiaki Okada, Petr G. Merzlyak, Ranokhon S. Kurbannazarova, Nargiza A. Tsiferova, Yasunobu Okada   +6 more
doaj   +1 more source

Crohn-like Disease Affecting Small Bowel Due to Monogenic SLCO2A1 Mutations: First Cases of Chronic Enteropathy Associated with SLCO2A1 Gene [CEAS] in France

Journal of Crohn's and Colitis, 2022
Abstract Introduction Multiple chronic ulcers of small intestine are mainly ascribed to Crohn’s disease. Among possible differential diagnoses are chronic ulcers of small bowel caused by abnormal activation of the prostaglandin pathway either in the archetypal but uncommon non-steroidal anti ...
Annick Hamon, Dominique Cazals-Hatem, Carmen Stefanescu, Mathieu Uzzan, Xavier Treton, Alain Sauvanet, Yves Panis, Marie Monsinjon, Fanny Bonvalet, Olivier Corcos, Emilie Azouguene, Nadine Cerf-Bensussan, Yoram Bouhnik, Fabienne Charbit-Henrion   +13 more
openaire   +2 more sources

Characterization of Mineral and Bone Metabolism Biomarkers in a Chinese Consanguineous Twin Family with Primary Hypertrophic Osteoarthropathy

International Journal of Endocrinology, 2020
Purpose. Primary hypertrophic osteoarthropathy (PHO) is a rare, autosomal, recessive genetic disease characterized by digital clubbing, periostosis, and pachydermia.
Na Li, Yuhang Ma, Yun Jiang, Li You, Yunhong Huang, Yongde Peng, Xiaoying Ding, Li Zhao   +7 more
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, Tatiana A. Grebennikova, Alexey G. Nikitin, Zhanna E. Belaya   +3 more
doaj   +1 more source

Meta-Analysis-Assisted Detection of Gravity-Sensitive Genes in Human Vascular Endothelial Cells

Frontiers in Cell and Developmental Biology, 2021
Gravity affects the function and maintenance of organs, such as bones, muscles, and the heart. Several studies have used DNA microarrays to identify genes with altered expressions in response to gravity.
Yin Liang, Mengxue Wang, Yun Liu, Chen Wang, Ken Takahashi, Keiji Naruse   +5 more
doaj   +1 more source

Primary hypertrophic osteoarthropathy: phenotypic variability and penetrance rate in heterozygotes for <i>SLCO2A1</i> variants. [PDF]

JBMR Plus
Abstract Background Primary hypertrophic osteoarthropathy (PHO) is a rare autosomal recessive disease caused by pathogenic variants (PVs) in HPGD and SLCO2A1 genes whose phenotypes were, respectively, designated as PHOAR1 and PHOAR2.
Arcanjo AM, de Souza AF, de Souza Quedas EP, de Menezes Correia-Deur JE, Ferreira DL, de Almeida Toledo SP, Lourenço DM.   +6 more
europepmc   +3 more sources

Pathogenesis of chronic enteropathy associated with the SLCO2A1 gene: Hypotheses and conundrums. [PDF]

World J Gastroenterol
Chronic 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