Results 201 to 210 of about 152,836 (291)

Nonsense [PDF]

The Mathematical Intelligencer, 2015
openaire   +1 more source

In Vivo Cytoskeletal AMPA Receptor Transport Imaging in C. elegans

Cytoskeleton, EarlyView.
ABSTRACT Long‐distance intracellular transport of ionotropic glutamate receptors (iGluRs) is essential for proper excitatory synaptic function underlying learning and memory. Many neuropsychiatric and neurodegenerative conditions have abnormal iGluR transport and trafficking, leading to an intense interest in the mechanisms and factors regulating these
Michaelis A. K., Hoerndli F. J.
wiley   +1 more source

Genomic Confirmation of HLA-A*02:94N By Next-Generation Sequencing. [PDF]

HLA
Merschman J, Kreuter J, Millard K, Wakefield L, Gandhi MJ.   +4 more
europepmc   +1 more source

Investigating the Cytoskeleton of DRGs Using Cryo‐Electron Microscopy and Deep Learning

Cytoskeleton, EarlyView.
ABSTRACT We describe a method for determining the ultrastructural organization of axons and varicosities of cultured dorsal root ganglion (DRG) neurons using cryogenic electron microscopy (cryo‐EM). Cryo‐EM reveals the dimensions, proximity, and overall organization of biological specimens in a near‐native state, avoiding artifacts of fixation and ...
M. Neal Waxham, Mihir Relan, Matthew T. Swulius, Andrea K. H. Stavoe   +3 more
wiley   +1 more source

SOAT1 Nonsense Variant in a Cat With Sebaceous Gland Dysplasia. [PDF]

Anim Genet
Kammermann L, Mansell JK, McMahill BG, Affolter VK, Jagannathan V, Leeb T.   +5 more
europepmc   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

Genetic factors associated with thymic tumors in patients with MEN1: a nested case-control study in the GTE/AFCE cohort. [PDF]

J Endocr Soc
Journé A, Goudet P, Sow AK, Daniel S, Costa A, Nambot S, Lepage C, Binquet C.   +7 more
europepmc   +1 more source

Analysis of Suffix Use for Biosimilar Product Identification in Postmarketing Adverse Event Reporting

Clinical Pharmacology &Therapeutics, EarlyView.
Accurate identification of medicines used in adverse event reports is crucial for effective postmarketing safety surveillance. The US Food and Drug Administration's (FDA) four‐letter suffix naming convention was designed to facilitate accurate biological product identification, but the extent to which these suffixes have been incorporated into ...
Danijela Stojanovic, Lisa Wolf, M. Stacey Ricci, Monica A. Muñoz   +3 more
wiley   +1 more source

Novel Compound Heterozygous RECQL4 Pathogenic Variants and Associated Phenotypes in a Chinese Patient With Rothmund-Thomson Syndrome: Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Wang Y, Li L, Zheng C, Li M, Yu Q.
europepmc   +1 more source

Dihydropyrimidine Dehydrogenase Genotype–Phenotype Correlations in Plasma and Peripheral Blood Mononuclear Cells

Clinical Pharmacology &Therapeutics, EarlyView.
The chemotherapeutic 5‐fluorouracil (5‐FU) is commonly used to treat solid tumors, especially colorectal cancer. Deleterious variants in DPYD, which encodes dihydropyrimidine dehydrogenase (DPD), are strongly associated with severe and potentially lethal 5‐FU toxicity.
Brianna M. Bembenek, Seid Hamzic, Kelly J. Bouchonville, Carlo R. Largiadèr, Steven M. Offer   +4 more
wiley   +1 more source