Results 61 to 70 of about 257,618 (243)

Phenotypic continuum of NFU1‐related disorders

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian   +45 more
wiley   +1 more source

Targeting the MDM2‐MDM4 interaction interface reveals an otherwise therapeutically active wild‐type p53 in colorectal cancer

Molecular Oncology, EarlyView.
This study investigates an alternative approach to reactivating the oncosuppressor p53 in cancer. A short peptide targeting the association of the two p53 inhibitors, MDM2 and MDM4, induces an otherwise therapeutically active p53 with unique features that promote cell death and potentially reduce toxicity towards proliferating nontumor cells.
Sonia Valentini, Giada Mele, Marika Attili, Maria Rita Assenza, Fulvio Saccoccia, Francesca Sardina, Cinzia Rinaldo, Roberto Massari, Nicola Tirelli, Alfredo Pontecorvi, Fabiola Moretti   +10 more
wiley   +1 more source

Effects of pregnancy on neuromyelitis optica spectrum disorder and predictors of related attacks

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1918-1925, December 2022., 2022
Abstract Objective Our study aimed to investigate the influence of pregnancy on the course of neuromyelitis optica spectrum disorders (NMOSD) and to explore the independent predictors of pregnancy‐related attacks. Methods We performed a retrospective study of patients with NMOSD based on the Wingerchuk 2006 or the revised Wingerchuk 2015 criteria ...
Qin Du, Ziyan Shi, Hongxi Chen, Ying Zhang, Yuhan Qiu, Yanlin Lang, Lingyao Kong, Hongyu Zhou   +7 more
wiley   +1 more source

Thermal proteome profiling and proteome analysis using high‐definition mass spectrometry demonstrate modulation of cholesterol biosynthesis by next‐generation galeterone analog VNPP433‐3β in castration‐resistant prostate cancer

Molecular Oncology, EarlyView.
Elevated level of cholesterol is positively correlated to prostate cancer development and disease severity. Cholesterol‐lowering drugs, such as statins, are demonstrated to inhibit prostate cancer. VNPP433‐3β interrupts multiple signaling and metabolic pathways, including cholesterol biosynthesis, AR‐mediated transcription of several oncogenes, mRNA 5′
Retheesh S. Thankan, Elizabeth Thomas, Mehari M. Weldemariam, Puranik Purushottamachar, Weiliang Huang, Maureen A. Kane, Yuji Zhang, Nicholas Ambulos, Bi‐Dar Wang, David Weber, Vincent C. O. Njar   +10 more
wiley   +1 more source

Brain magnetic resonance imaging predictors in anti‐N‐methyl‐D‐aspartate receptor encephalitis

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1974-1984, December 2022., 2022
Abstract Objective Brain magnetic resonance imaging (MRI) findings in anti‐N‐methyl‐D‐aspartate receptor (NMDAR) encephalitis are nonspecific and rarely have obvious associations with clinical characteristics and outcomes. This study aimed to comprehensively describe the MRI features of patients with NMDAR encephalitis, examine their associations with ...
Ying‐Ying Zhao, Bing Han, Cui‐Hong Qin, Xue‐Xiu Shi, Wen‐Jing Yun, Meng Wang, Bo Yuan, Tong‐Wen Sun, Hai‐Xu Wang   +8 more
wiley   +1 more source

The Bargain Theory of Wages: A Critical Development from the Historic Theories, together with an Examination of Certain Wages Factors: the Mobility of Labor, Trade Unionism and the Methods of Industrial Remuneration. By JOHN DAVIDSON, M. A. , Ph. D. , Professor of Political Economy in the University of New Bruns wick. Pp. viii, 3I9. Price, $I.50. New York and London: G. P. Putnam's Sons, I898 [PDF]

, 1898
Sidney Sherwood
openalex   +1 more source

Highly multiplexed digital PCR assay for simultaneous quantification of variant allele frequencies and copy number alterations of KRAS and GNAS in pancreatic cancer precursors

Molecular Oncology, EarlyView.
Combining melting curve analysis enhances the multiplexing capability of digital PCR. Here, we developed a 14‐plex assay to simultaneously measure single nucleotide mutations and amplifications of KRAS and GNAS, which are common driver genes in pancreatic cancer precursors. This assay accurately quantified variant allele frequencies in clinical samples
Junko Tanaka, Tatsuo Nakagawa, Yusuke Ono, Yoshio Kamura, Takeshi Ishida, Hidemasa Kawabata, Kenji Takahashi, Hiroki Sato, Andrew S. Liss, Yusuke Mizukami, Takahide Yokoi   +10 more
wiley   +1 more source

A transient inflammatory response contributes to oxaliplatin neurotoxicity in mice

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1985-1998, December 2022., 2022
Abstract Objectives Peripheral neuropathy is a relevant dose‐limiting adverse event that can affect up to 90% of oncologic patients with colorectal cancer receiving oxaliplatin treatment. The severity of neurotoxicity often leads to dose reduction or even premature cessation of chemotherapy.
Aina Calls, Abel Torres‐Espin, Marc Tormo, Laura Martínez‐Escardó, Núria Bonet, Ferran Casals, Xavier Navarro, Víctor J. Yuste, Esther Udina, Jordi Bruna   +9 more
wiley   +1 more source

Evidence for an ionised disc in the narrow-line Seyfert 1 galaxy Ark 564 [PDF]

arXiv, 1999
We present simultaneous ASCA and RXTE observations of Ark 564, the brightest known ``narrow-line'' Seyfert 1 in the 2-10 keV band. The measured X-ray spectrum is dominated by a steep (Gamma~2.7) power-law continuum extending to at least 20 keV, with imprinted Fe K-line and -edge features and an additional ``soft excess'' below ~1.5 keV.
arxiv  

Germline variants in CDKN2A wild‐type melanoma prone families

Molecular Oncology, EarlyView.
Among melanoma‐prone families, wild‐type for CDKN2A and CDK4, some have pathogenic variants in genes not usually linked to melanoma. Furthermore, rare XP‐related variants and variants in MC1R are enriched in such families. Germline pathogenic variants in CDKN2A are well established as an underlying cause of familial malignant melanoma. While pathogenic
Gjertrud T. Iversen, Marie Loeng, Amalie Lund Holth, Per E. Lønning, Jürgen Geisler, Stian Knappskog   +5 more
wiley   +1 more source