Results 131 to 140 of about 316,659 (284)

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Lipocalin‐2 activates hepatic stellate cells and promotes nonalcoholic steatohepatitis in high‐fat diet–fed Ob/Ob mice

Hepatology, EarlyView., 2022
Graphical summary of obesity‐induced NASH progression by LCN2 targeted to HSC activation. Abstract Background and Aims In obesity and type 2 diabetes mellitus, leptin promotes insulin resistance and contributes to the progression of NASH via activation of hepatic stellate cells (HSCs).
Kyung Eun Kim, Jaewoong Lee, Hyun Joo Shin, Eun Ae Jeong, Hye Min Jang, Yu Jeong Ahn, Hyeong Seok An, Jong Youl Lee, Meong Cheol Shin, Soo Kyoung Kim, Won Gi Yoo, Won Ho Kim, Gu Seob Roh   +12 more
wiley   +1 more source

Buried Treasure? Overlooked and Newly Discovered Evolutionary Contributions to Human Brain Diseases

Annals of Neurology, EarlyView.
Recapitulative schema of different exploratory levels of the evolutionary impact on human neurological diseases. Clinical neuroscience focuses on the mechanisms of brain function, but this approach falls short of insights into how the central nervous system (CNS) evolved, both in health and disease.
Nico J. Diederich, Martin Brüne, John S. Allen, Nicole Bender, Emiliano Bruner, Jean‐Pierre Changeux, Corrado Cali, Olga Dolgova, Anne Grünewald, Geneviève Konopka, Peng Jin, Roger Lemon, Gilberto Levy, Pierre Magistretti, Markus J. Rantala, Kathleen S. Rockland, Roger Sullivan, Annie Swanepoel, Toshiki Uchihara, Katrin Amunts, Christopher G. Goetz   +20 more
wiley   +1 more source

Adeno‐associated virus serotype 2 capsid variants for improved liver‐directed gene therapy

Hepatology, EarlyView., 2022
Abstract Background and Aims Current liver‐directed gene therapies look for adeno‐associated virus (AAV) vectors with improved efficacy. With this background, capsid engineering is explored. Whereas shuffled capsid library screenings have resulted in potent liver targeting variants with one first vector in human clinical trials, modifying natural ...
Nadja Meumann, Marti Cabanes‐Creus, Moritz Ertelt, Renina Gale Navarro, Julie Lucifora, Qinggong Yuan, Karin Nien‐Huber, Ahmed Abdelrahman, Xuan‐Khang Vu, Liang Zhang, Ann‐Christin Franke, Christian Schmithals, Albrecht Piiper, Annabelle Vogt, Maria Gonzalez‐Carmona, Jochen T. Frueh, Evelyn Ullrich, Philip Meuleman, Steven R. Talbot, Margarete Odenthal, Michael Ott, Erhard Seifried, Clara T. Schoeder, Joachim Schwäble, Leszek Lisowski, Hildegard Büning   +25 more
wiley   +1 more source

Stability of guanine adsorbed in a clay mineral under gamma irradiation at temperatures (77 and 298 K): Implications for chemical evolution studies [PDF]

, 2014
A. L. Meléndez-López, S. Ramos-Bernal, L. Ramírez-Vázquez   +2 more
openalex   +1 more source

Mapping the diffusion pattern of 1O2 along DNA duplex by guanine photooxidation with an appended biphenyl photosensitizer [PDF]

, 2023
Takashi Kanamori, Shota Kaneko, Koji Hamamoto, Hideya Yuasa   +3 more
openalex   +1 more source

Epstein–Barr Virus, Lower Vitamin D, Low Sun Exposure, and HLA‐DRB1*1501 Risk Variant Share Common Epigenetic Pathways Leading to Multiple Sclerosis Onset

Annals of Neurology, EarlyView.
Objectives Multiple sclerosis (MS) onset risk factors include Epstein–Barr virus (EBV) indices (including host response), lower serum 25‐vitamin D (25(OH)D) levels, low sun exposure, and HLA‐DRB1*1501. The underlying molecular mechanisms are unclear. Here, we examined mediation through differential DNA methylation (DNAm) to better understand possible ...
Steve Simpson‐Yap, Ellen Morwitch, Samuel A. Tanner, Sarah M. Thomson, Alex Eisner, Rod A. Lea, Trevor J. Kilpatrick, Jeannette Lechner‐Scott, Rodney J. Scott, Alexandre Xavier, Vicki E. Maltby, Robyn M. Lucas, Bruce V. Taylor, Brett A. Lidbury, Simon A. Broadley, Ingrid van der Mei, Mehari Woldemariam Merid, Boris Novakovic, Richard Saffery, Anna Karin Hedström, Pernilla Stridh, Tomas Olsson, Maja Jagodic, Lars Alfredsson, Anne‐Louise Ponsonby, for the Ausimmune Investigator Group, Caron Chapman, Alan Coulthard, Keith Dear, Terry Dwyer, Trevor Kilpatrick, Robyn Lucas, Tony McMichael, Anne‐Louise Ponsonby, Bruce Taylor, Patricia Valery, Ingrid van der Mei, David Williams   +37 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Guanine nucleotides stimulate NADPH oxidase in membranes of human neutrophils [PDF]

, 1986
Roland Seifert, Walter Rosenthal, Glauco Schultz   +2 more
openalex   +1 more source

0D Fluorescent Nanomaterials: Preparation, Properties, and its Antibacterial Applications

Advanced NanoBiomed Research, EarlyView.
This article reviews the synthesis methods and typical properties of representative 0D fluorescent nanomaterials such as carbon dots, quantum dots, and metal nanoclusters, while also exploring their antibacterial applications in various fields including medical and health care, food, agriculture, and industry.
Tianyi Lu, Jiangxue Dong, Yanlei Li, Jingjing Wang, Ming Su, Yajie Fan, Shigang Shen, Zhongfeng Gao   +7 more
wiley   +1 more source