Results 61 to 70 of about 2,152 (193)

SLCO2A1 Gene Variant in a Portuguese Patient with Primary Hypertrophic Osteoarthropathy

Portuguese Journal of Pediatrics, 2022
Portuguese Journal of Pediatrics, Vol. 53 No. 3 (2022)
Cardoso, Ivana, Rodrigues, Mariana, Aguiar, Francisca, Grangeia, Ana, Brito, Iva   +4 more
openaire   +3 more sources

Simultaneous enumeration of cancer and immune cell types from bulk tumor gene expression data. [PDF]

, 2017
Immune cells infiltrating tumors can have important impact on tumor progression and response to therapy. We present an efficient algorithm to simultaneously estimate the fraction of cancer and immune cell types from bulk tumor gene expression data.
Ahn, Angelova, Anghel, Balch, Baron, Becht, Carmona, Carter, Charoentong, Clarke, Clemente, Edgar, Efroni, Finak, Fridman, Galon, Ganesan, Gaujoux, Gentles, Gong, Gosink, GTEx Consortium, Hackl, Hanahan, Hoadley, Hoek, Jaitin, Joyce, Langmead, Li, Li, Li, Li, Linsley, Linsley, Love, Newman, Pabst, Padovan-Merhar, Qiao, Quon, Racle, Rooney, Saliba, Sconocchia, Shen-Orr, Singer, Speiser, Stegle, Subrahmanyam, Tirosh, Tzur, Venet, Yoshihara, Zheng, Zhong, Zimmermann, Şenbabaoğlu   +57 more
core   +2 more sources

Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report

Frontiers in Genetics, 2022
We reported a 22-year-old Emirati male with autosomal recessive primary hypertrophic osteoarthropathy caused by a possibly pathogenic homozygous non-synonymous variant in the SLCO2A1 gene (NM_005630.3: c.289C>T, p.
Areej Albawa'neh, Mariam Ghareeb Al Mansoori, Sehriban Diab, Fatma Al Jasmi, Fatma Al Jasmi, Nadia Akawi, Nadia Akawi   +6 more
doaj   +1 more source

Osmotic Tension Asymmetry Drives Electrotactic Migration via PDLIM7‐Polarized Microfilament Coordination in Breast Cancer Cells

Advanced Science, Volume 13, Issue 13, 3 March 2026.
This study establishes an electric field‐induced directional migration model using fluorescence tension probes to visualize microfilament forces and intracellular osmotic pressure dynamics in the electrotactic migration of breast cancer cells. This model delineates how electromechanical interactions among membrane potential, ion channels, OP, traction ...
Ling Zhu, Zihui Zheng, Wang Li, Chenyi Shou, Ying Zhao, Lijun Zhang, Xiaoli Shi, Yunfeng Hu, Huanhuan Zhao, Huiwen Wu, Jun Guo   +10 more
wiley   +1 more source

Primary hypertrophic osteoarthropathy related gastrointestinal complication has distinctive clinical and pathological characteristics: two cases report and review of the literature

Orphanet Journal of Rare Diseases, 2019
Background Primary hypertrophic osteoarthropathy (PHO) is a rare disease related to HPGD and SLCO2A1 gene mutation. Gastrointestinal involvement of PHO is even rarer with unknown pathogenesis. Clinical features of GI complication in PHO mimics other auto-
Qiang Wang, Ying-he Li, Guo-le Lin, Yue Li, Wei-xun Zhou, Jia-ming Qian, Wei-bo Xia, Dong Wu   +7 more
doaj   +1 more source

Expression of the prostaglandin F synthase AKR1B1 and the prostaglandin transporter SLCO2A1 in human fetal membranes in relation to spontaneous term and preterm labour

Frontiers in Physiology, 2014
Background: Human labour is a complex series of cellular and molecular events that occur at the materno-fetal and uterine levels. Many hypotheses have been proposed for the initiation of human labour, one hypothesis suggests that maturation of the fetus ...
Hana A Alzamil, Joya ePawade, Michel A Fortier, A eLópez Bernal   +3 more
doaj   +1 more source

Genome variation in tick infestation and cryptic divergence in Tunisian indigenous sheep [PDF]

, 2022
BACKGROUND: Ticks are obligate haematophagous ectoparasites considered second to mosquitos as vectors and reservoirs of multiple pathogens of global concern.
Ahbara, Abulgasim M., Gharbi, Mohamed, Haile, Aynalem, Khbou, Médiha Khamassi, Mwacharo, Joram M., Rekik, Mourad, Rhomdhane, Rihab, Rischkowsky, Barbara, Sassi, Limam   +8 more
core   +2 more sources

A novel variant in the SLCO2A1 gene in a Chinese patient with chronic gastroenteropathy and primary hypertrophic osteoarthropathy

Orphanet Journal of Rare Diseases
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.
Yimin Dai, Miao He, Hui Xu, Bei Tan, Weixun Zhou, Wei Liu, Qiang Wang, Jingyi Huang, Qing Shang, Yaping Liu, Yue Li   +10 more
doaj   +1 more source

Primary hypertrophic osteoarthropathy: genetics, clinical features and management

Frontiers in Endocrinology, 2023
Primary hypertrophic osteoarthropathy (PHO) is a genetic disorder mainly characterized by clubbing fingers, pachydermia and periostosis. Mutations in the HPGD or SLCO2A1 gene lead to impaired prostaglandin E2 (PGE2) degradation, thus elevating PGE2 ...
Qi Lu, Yang Xu, Zeng Zhang, Shanshan Li, Zhenlin Zhang   +4 more
doaj   +1 more source

Atypical primary hypertrophic osteoarthropathy diagnosed with a novel SLCO2A1 gene mutation

Imaging, 2023
AbstractPrimary hypertrophic osteoarthropathy (HOA) is a rare condition with no identifiable cause, accounting for 3%–5% of all HOA cases. It is challenging to identify incomplete primary HOA, which can be misdiagnosed as other hypertrophic periostitis diseases.
Pham Hoai Thu, Do-Thi Huyen Trang, Luu Canh Linh, Nguyen Minh Duc   +3 more
openaire   +1 more source