Results 281 to 290 of about 2,897,926 (346)

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source

Label-free metabolic imaging of <i>Pseudomonas aeruginosa</i> infection using two-photon fluorescence lifetime imaging microscopy. [PDF]

Front Cell Infect Microbiol
Snyder GA, Bergamin de Castro T, Scott AJ, Ray K.   +3 more
europepmc   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Carbon quantum dots from silymarin extraction for multi-fluorescent sensors, photocatalysis, and anticancer activity applications. [PDF]

Sci Rep
Elkun S, Ghali M, Sharshar T, Mosaad MM.
europepmc   +1 more source

Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann, Michelle M. Sonsalla, Cora Luzinski, Fernando Zacahua, David A. Harris, Dudley W. Lamming, Albee Messing   +6 more
wiley   +1 more source

Tailored brain metastatic tumor cells-derived apoptotic bodies ameliorate Alzheimer's disease by promoting microglia efferocytosis and neuroinflammation mitigation. [PDF]

J Nanobiotechnology
Mu Z, Chen Y, Hu Y, Wang H, Li J.
europepmc   +1 more source

Rapid in situ microwave-assisted fabrication of ultrabright near-infrared probe for low-dose in vivo inflammatory imaging. [PDF]

J Nanobiotechnology
Ruan D, Hu C, Yang Z, Zhang F, Guo B, Lei Y, Jaque D, Shen Y, Wang F.   +8 more
europepmc   +1 more source

Fluorescent marker prediction for non-invasive optical imaging in bovine satellite cells using deep learning. [PDF]

Front Artif Intell
Sinha S, Wasit A, Kim WS, Kim J, Yi J.
europepmc   +1 more source

A new multi-purpose FRET fluorescent probe for the simultaneous detection of proteases. [PDF]

RSC Adv
Jedináková P, Barbuščáková Z, Milićević D, Kubala M, Hlaváč J.   +4 more
europepmc   +1 more source

Dynamic visualization of extracellular matrix components in <i>S. aureus</i> colony biofilms reveals functional amyloids leading to the formation of cap-like structures. [PDF]

Biofilm
Zhang T, Bär J, Risberg L, Gómez Mejia A, Hammar H, Löffler S, Otzen DE, Andreasen M, Meyer RL, Melican K, Zinkernagel AS, Richter-Dahlfors A.   +11 more
europepmc   +1 more source