Results 91 to 100 of about 5,002 (185)

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

ASS1 as a novel tumor suppressor gene in myxofibrosarcomas: Aberrant loss via epigenetic DNA methylation confers aggressive phenotypes, negative prognostic impact, and therapeutic relevance

, 2013
[[abstract]]PURPOSE: The principal goals were to identify and validate targetable metabolic drivers relevant to myxofibrosarcoma pathogenesis using a published transcriptome.EXPERIMENTAL DESIGN: As the most significantly downregulated gene regulating ...
Huang, HY;Wu, WR;Wang, YH;Wang, JW;Fang, FM;Tsai, JW;Li, SH;Hung, HC;Yu, SC;Lan, J;Shiue, YL;Hsing, CH;Chen, LT;Li, CF
core   +1 more source

Visualization of argininosuccinate synthetase by in silico analysis: novel insights into citrullinemia type I disorders

Frontiers in Molecular Biosciences
BackgroundCitrullinemia type I disorders (CTLN1) is a genetic metabolic disease caused by argininosuccinate synthetase (ASS1) gene mutation. To date, the human genome mutation database has documented over 100 variants of the ASS1 gene.
Xia Gu, Xia Gu, Wenhui Mo, Guiying Zhuang, Congcong Shi, Congcong Shi, Tao Wei, Jinze Zhang, Chiaowen Tu, Yao Cai, Yao Cai, Biwen Liao, Hu Hao, Hu Hao   +13 more
doaj   +1 more source

Amino Acid Uptake Measured by [18F]AFETP Increases in Response to Arginine Starvation in ASS1-Deficient Sarcomas [PDF]

, 2018
Rational: In a subset of cancers, arginine auxotrophy occurs due to the loss of expression of argininosuccinate synthetase 1 (ASS1). This loss of ASS1 expression makes cancers sensitive to arginine starvation that is induced by PEGylated arginine ...
Jinbin Xu, Sai, Kiran Kumar Solingapuram, Hayden Leeds, Van Tine, Brian Andrew, Solingapuram Sai, Kiran Kumar, Fangdi Sun, Xu, Jinbin, Huang, Chaofeng, Kremer, Jeffrey Charles, Sun, Fangdi, Jeffrey Charles Kremer, Prudner, Bethany Cheree, Leeds, Hayden, Morgan, Zachary, McConathy, Jonathan, Chaofeng Huang, Bethany Cheree Prudner, Jonathan McConathy, Zachary Morgan, Brian Andrew Van Tine, Kiran Kumar Solingapuram Sai   +20 more
core   +1 more source

Loss of ASS1 expression in myxofibrosarcoma via promoter hypermethylation: Prognostic and potential therapeutic implications

, 2011
[[abstract]]Background: Argininosuccinate synthase 1 (ASS1), catalyzing the penultimate step of the arginine biosynthetic pathway, is commonly downregulated in human cancers.
Li, CF;Chen, LT;Wang, YH;Shiue, YL;Huang, HY
core   +1 more source

Deficiency in expression and epigenetic DNA Methylation of ASS1 gene in nasopharyngeal carcinoma: Negative prognostic impact and therapeutic relevance

, 2013
[[abstract]]The risk stratification and final outcomes in patients with nasopharyngeal carcinomas (NPC) still remain suboptimal. Our principal goals were to identify and validate targetable metabolic drivers relevant to pathogenesis of NPC using a ...
Lan, J;Tai, HC;Lee, SW;Chen, TJ;Huang, HY;Li, CF
core   +1 more source

Figure-S3 from ASS1 as a Novel Tumor Suppressor Gene in Myxofibrosarcomas: Aberrant Loss via Epigenetic DNA Methylation Confers Aggressive Phenotypes, Negative Prognostic Impact, and Therapeutic Relevance

, 2013
Figure-S3 PDF file 74K, Figure-S3 Validation of anti-angiogenic mediators and anti-proliferative fucntion of ASS1: (A) ELISA assay to measure secreted protein concentration in the conditioned media of ASS1-reexpressing versus control transfectants of ...
Fu-Min Fang (502561), Shau-Hsuan Li (311693), Wen-Ren Wu (14987633), Yu-Hui Wang (2975586), Hsiao-Chin Hung (14991924), Yow-Ling Shiue (3459221), Chien-Feng Li (355973), Jen-Wei Tsai (14991921), Jun-Wen Wang (9416989), Hsuan-Ying Huang (2202985), Shih-Chen Yu (14973406), Jui Lan (3632881), Chung-His Hsing (14991927), Li-Tzong Chen (388257)   +13 more
core   +1 more source

ASS1+hepatocellular adenoma, a new and major subtype [PDF]

HPB, 2018
P. Bioulac-Sage, L. Chiche, C. Laurent, J.F. Blanc, B. Le Bail, N. Frulio, A.A. Raymond, F. Saltel, C. Balabaud   +8 more
openaire   +1 more source

ASS1 metabolically contributes to the nuclear and cytosolic p53-mediated DNA damage response

: Downregulation of the urea cycle enzyme argininosuccinate synthase (ASS1) in multiple tumors is associated with a poor prognosis partly because of the metabolic diversion of cytosolic aspartate for pyrimidine synthesis, supporting proliferation and ...
Soria, Leandro R, Darzi, Naama, Lim, Lisha Qiu Jin, Meier, Jordan, Itkin, Maxim, Ben-Dor, Shifra, Brunetti-Pierri, Nicola, Ruppin, Eytan, Lichtenstein, Michal, Aylon, Yael, Pri-Or, Amir, Orr, Irit, Malitsky, Sergey, Perez, Minervo, Furth, Noa, Brandis, Alexander, Perry, Rotem Ben-Tov, Ulitsky, Igor, Brody, Ruchama, Oren, Moshe, Erez, Ayelet, Melman, Tevie, Hajaj, Emma, Shaul, Yoav, Shema, Efrat, Adler, Lital, Seger, Rony, Porat, Ziv, Bab-Dinitz, Elizabeta   +28 more
core   +1 more source

Glaucoma and Alzheimer: Neurodegenerative disorders show an adrenergic dysbalance

PLoS ONE, 2022
Glaucoma disease is characterized by an increased intraocular pressure (IOP), glaucomatous alterations of the optic disc and corresponding visual field defects. Even lowering the main risk factor IOP until an individual target level does not prevent this
Bettina Hohberger, Harald Prüss, Christian Mardin, Robert Lämmer, Johannes Müller, Gerd Wallukat   +5 more
doaj