Results 221 to 230 of about 3,863,409 (286)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Uterine function and reproduction aging. I. Molecular and structural alterations associated with impaired decidualization in aged mouse uteri. [PDF]

Uterine Res
Cummings MJ, Liu B, Paudel S, Wang X, Sgouridis S, Peng X, Hu G, Wang X.   +7 more
europepmc   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

Diverse infection models demonstrate robust resistance of Mycobacterium tuberculosis to innate immunity. [PDF]

PLoS Pathog
Fairgrieve MR, Brydon EC, Chavez RA, Kotov DI, Vance RE.   +4 more
europepmc   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Blocking FOXO4 confers neuroprotection against oxidative stress and ischemia-reperfusion caused neuronal injury. [PDF]

J Neuropathol Exp Neurol
Asadi Y, Chakroborty A, Gorjipour F, Moundounga RK, Dwamena A, Potokiri A, Gilstrap E, Li X, McDowell C, Wang H.   +9 more
europepmc   +1 more source

Decoupled Anti-Diabetic and Gut Microbiota Responses to <i>Lactiplantibacillus plantarum</i> LPJZ-658 in db/db Mice. [PDF]

Microorganisms
Zhao C, Lu H, Liu F, Qiao Y.
europepmc   +1 more source

A Novel Peptide Targeting the USP25-SIRT1 Interaction Activates SIRT1 to Suppress Cell Senescence. [PDF]

Aging Cell
Zhou Y, Wang X, Zhang J, Qiang H, Zhao X, Luo J, Ji Y, Yao J, Zhai L, Zhang T, Li K, Chen Y, Yuan J, Li L, Li Y.   +14 more
europepmc   +1 more source

The Maintenance of Dysmyelinated Small-Diameter Axons by 14-3-3s in the Central Nervous System. [PDF]

Glia
Yamada N, Saito H, Takahashi R, Fujisato M, Hosoda Y, Sasaki B, Yamada M, Abe S, Hayashi C, Yoshimoto A, Ohkawa R, Matt TJ, M Bareyre F, Berghoff S, Simons M, Suzuki N.   +15 more
europepmc   +1 more source