Results 221 to 230 of about 559,012 (379)

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

Biosynthesis and assembly of mitochondrial proteins [PDF]

, 1983
A Scarpa, A Tzagoloff, AP Autor, AS Lewin, B Hennig, BC Pressman, C Côte, C Zwizinski, D Lloyd, DD Sabatini, DI Meyer, DI Meyer, DL Stigall, E Schmelzer, G Blobel, G Hallermayer, G Kreibich, G Macino, G Palade, G Schatz, G Schatz, GC Shore, H Freitag, H Freitag, H Korb, H Weiss, HW Heldt, J Subik, JG Conboy, JG Conboy, K Mihara, K Mihara, K Yamauchi, K Yamauchi, LAM Hensgens, M Klingenberg, M Mori, M Mori, M Schleyer, M Teintze, M-L Maccecchini, M-L Maccecchini, MA Harmey, N Nabi, N Nabi, N Nelson, N-H Chua, N-H Chua, P Böhni, P Sonderegger, P Sonderegger, P Walter, P Walter, P Walter, P Walter, PC Heinrich, PC Mcada, R Michel, R Sakakibara, R Zimmermann, R Zimmermann, R Zimmermann, R Zimmermann, RC Jackson, RN Dubois, S Matsuura, S Miura, SM Gasser, SN Graven, T Morita, W Neupert, W Sebald, W Wickner, Y Okada, Y Raymond, Y Raymond   +75 more
core   +1 more source

Energy-dependent binding of dansylgalactoside to the lac carrier protein: direct binding measurements.

, 1976
Shimon Schuldiner, Rudolf Weil, H. Ronald Kaback   +2 more
openalex   +1 more source

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

Clinical utility of cerebrospinal fluid biomarkers measured by LUMIPULSE® system

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1898-1909, December 2022., 2022
Abstract Objectives Cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) are well‐established in research settings, but their use in routine clinical practice remains a largely unexploited potential. Here, we examined the relationship between CSF biomarkers, measured by a fully automated immunoassay platform, and brain β‐amyloid (Aβ ...
Hisashi Nojima, Satoshi Ito, Akira Kushida, Aki Abe, Wataru Motsuchi, David Verbel, Manu Vandijck, Geert Jannes, Ina Vandenbroucke, Katsumi Aoyagi   +9 more
wiley   +1 more source

Development of Antibodies to Meningococcal Protein and Lipopolysaccharide Serotype Antigens in Healthy Carriers

, 1979
D. M. Jones, J Eldridge
openalex   +1 more source

Escape from TGF‐β‐induced senescence promotes aggressive hallmarks in epithelial hepatocellular carcinoma cells

Molecular Oncology, EarlyView.
Chronic TGF‐β exposure drives epithelial HCC cells from a senescent state to a TGF‐β resistant mesenchymal phenotype. This transition is characterized by the loss of Smad3‐mediated signaling, escape from senescence, enhanced invasiveness and metastatic potential, and upregulation of key resistance modulators such as MARK1 and GRM8, ultimately promoting
Minenur Kalyoncu, Dilara Demirci, Sude Eris, Bengisu Dayanc, Ece Cakiroglu, Merve Basol, Merve Uysal, Gulcin Cakan‐Akdogan, Fang Liu, Mehmet Ozturk, Gökhan Karakülah, Serif Senturk   +11 more
wiley   +1 more source

Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022
Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han, Feixia Zhan, Yuxin Yao, Li Cao, Jianguo Liu, Sheng Yao   +5 more
wiley   +1 more source

Apolipoproteins, as the carrier proteins for lipids, are involved in the development of breast cancer. [PDF]

Clin Transl Oncol, 2020
Zhou Y, Luo G.
europepmc   +1 more source

Targeting the AKT/mTOR pathway attenuates the metastatic potential of colorectal carcinoma circulating tumor cells in a murine xenotransplantation model

Molecular Oncology, EarlyView.
Dual targeting of AKT and mTOR using MK2206 and RAD001 reduces tumor burden in an intracardiac colon cancer circulating tumor cell xenotransplantation model. Analysis of AKT isoform‐specific knockdowns in CTC‐MCC‐41 reveals differentially regulated proteins and phospho‐proteins by liquid chromatography coupled mass spectrometry. Circulating tumor cells
Daniel J. Smit, Thais Pereira‐Veiga, Helena Brauer, Michael Horn, Paula Nissen, Thomas Mair, Bente Siebels, Hannah Voß, Ruimeng Zhuang, Marie‐Therese Haider, Desiree Loreth, Margarita Iskhakova, Bele Lindemann, Julian Kött, Laure Cayrefourcq, Jasmin Wellbrock, Hartmut Schlüter, Klaus Pantel, Catherine Alix‐Panabières, Manfred Jücker   +19 more
wiley   +1 more source