Results 61 to 70 of about 5,947 (218)

MTAP Deficiency as a Metabolic Vulnerability in Cancer: Implications for Synthetic Lethal Therapy

Cancer Science, EarlyView.
MTAP deletion creates a therapeutically actionable metabolic vulnerability through MTA accumulation and PRMT5 dependency. This review summarizes the biochemical basis of MTAP‐directed synthetic lethality, emerging PRMT5/MAT2A inhibitors, clinicogenomic features of MTAP‐deleted tumors, and future strategies for precision oncology.
Hiroaki Ikushima, Hidenori Kage
wiley   +1 more source

Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia

Internal Medicine, 2017
We experienced a case of a 19-year-old man with Gilbert syndrome with concomitant hereditary spherocytosis. The patient presented with moderate unconjugated hyperbilirubinemia, and inherited etiology was strongly suspected. The diagnosis of Gilbert syndrome was confirmed by the genetic analysis of the UGT1A1 gene, demonstrating UGT1A1*28 and compound ...
Aiso, Mitsuhiko, Yagi, Minami, Tanaka, Atsushi, Miura, Kotaro, Miura, Ryo, Arizumi, Toshihiko, Takamori, Yoriyuki, Nakahara, Sayuri, Maruo, Yoshihiro, Takikawa, Hajime   +9 more
openaire   +3 more sources

Bile‐Derived Exosomal miR‐196a/‐196b as Diagnostic Biomarkers Associated With Tumor Progression in Biliary Tract Cancer

Cancer Science, EarlyView.
Bile‐derived exosomal miR‐196a and miR‐196b are identified as novel biomarkers for biliary tract cancer. Serum miR‐196a levels are significantly elevated in advanced disease with metastasis, while both miRNAs contribute to tumor progression by promoting cancer cell proliferation and invasion.
Naotaka Kugiyama, Katsuya Nagaoka, Takehisa Watanabe, Michihiro Yoshida, Tadashi Toyohara, Cheng Pan, Kenyu Hashimoto, Fumiya Otsuka, Shinya Ushijima, Yukiko Uramoto, Hajime Iwasaki, Motohiro Yoshinari, Shunpei Hashigo, Kazuki Hayashi, Itaru Naitoh, Fumihiro Okumura, Hiromu Kondo, Kaiki Anbe, Hiromitsu Hayashi, Yoshihiro Komohara, Yasuhito Tanaka   +20 more
wiley   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Outbreak of poisoning by sodium hydrogen methylarsonate (MSMA)—an arsenic‐based herbicide—in horses in Brazil

Equine Veterinary Journal, EarlyView.
Abstract Background Arsenic poisoning in horses is rarely reported in the literature. However, arsenic compounds can be present in rodenticides, pesticides, and herbicides, representing a potential source of accidental exposure for horses. Objective To describe the epidemiological, clinical, and laboratory findings from a herd of 31 horses exposed to ...
Gabriella Faria Pereira, Maria Clara Hornich Blimbliem, Anna Laura Previato Rosa Machado, Junara Bianca Rosa Abdala, Geison Morel Nogueira, Hugo Shisei Toma, Tatiane Furtado de Carvalho, Diego José Zanzarini Delfiol   +7 more
wiley   +1 more source

HEREDITARY SPHEROCYTOSIS IN MOTHER AND NEONATE DIAGNOSED BY ANEMIA AND HYPERBILIRUBINEMIA IN THE NEONATE

, 2003
We experienced a case of hereditary spherocytosis in both mother and neonate diagnosed by anemia and hyperbilirubinemia in the neonate. Phototherapy was effective against the neonatal jaundice ; however, anemia became severe and necessitated a blood ...
Ando, Yoshiya, Matsumoto, Yoshinari, Matsuda, Tetsunori, Otakara, Mormlto, Kakimoto, Kazuhiro   +4 more
core  

Extended Double Plasma Molecular Adsorption Sessions and Bilirubin Clearance: A Case Report

Hemodialysis International, EarlyView.
ABSTRACT Background The double plasma molecular adsorption system is an artificial‐liver treatment model combining the use of ion exchange resins and neutral microporous resins to remove toxins such as inflammatory cytokines without consuming large amounts of plasma and albumin. Given the relatively expensive consumables needed for Bilirubin adsorption,
Hui Ye, Yi Long Hao, Hai Nan Yang, Wei Fang Yuan, Kai Liang Xu, Xiao Xiao Li, Ming Lei, Yu Xia Sun   +7 more
wiley   +1 more source

Hereditary stomatocytosis vs elliptocytosis presenting recurrent pancreatitis

Hereditary stomatocytosis is a rare autosomal dominant genetic disorder due to an abnormality of red cell permeability to monovalent cations resulting in alteration in water content of red cells.
Ingle, Achala Arvind, Bhattacharya, Meenakshi, Gupta, Ishank   +2 more
core   +2 more sources

GLUT1 Deficiency Syndrome with Coexistent Movement Disorder and Anemia

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S AlFaris, Anika Menetrey, Sayoni Roy Chowdhury, Lindsey Vogt, Jolynn Dickson, Karen Owusu, Pradeep Krishnan, Suvasini Sharma, Liali Aljouda, Reena Pabari, Grace Yoon, Carolina Gorodetsky   +12 more
wiley   +1 more source

The Role of Gut Microbiota in Liver Regeneration After Partial Hepatectomy: New Evidence From Animal and Human Studies

The FASEB Journal, Volume 40, Issue 14, 31 July 2026.
Partial hepatectomy (PH) reshapes gut microbiota composition, resulting in the release of microbial metabolites and components, including short chain fatty acids (SCFAs)/β‐hydroxybutyric acid (BHB), bacterial DNA and extracellular vesicles (EVs), bile acids (deoxycholic acid, DCA), and aminobenzoate degradation products.
Roberto Loi, Gabriella Simbula, Andrea Caddeo, Monica Pibiri   +3 more
wiley   +1 more source