Results 281 to 290 of about 1,731,332 (381)

Short peptide perturbs spermatogenesis via immune microenvironment dysregulation and mitochondrial imbalance

open access: yesFEBS Open Bio, EarlyView.
In the blood–testis barrier, occludin is crucial for tight junctions. This study demonstrates that occludin‐targeting short peptides disrupt junction integrity, inducing immune cell infiltration, tumor necrosis factor‐α/interleukin‐6 secretion and mitochondrial dysfunction, ultimately triggering apoptosis.
Heng Wang, Xiaofang Tan, Deyu Chen
wiley   +1 more source

Nuclear constriction segregates mobile nuclear proteins away from chromatin. [PDF]

open access: yesMol Biol Cell, 2016
Irianto J   +7 more
europepmc   +1 more source

Understanding and Overcoming Immunotherapy Resistance in Skin Cancer: Mechanisms and Strategies

open access: yesAging and Cancer, EarlyView.
This narrative review explores the mechanisms driving immunotherapy resistance in skin cancer, including tumor microenvironment factors, genetic mutations, and immune evasion strategies. It highlights potential strategies to overcome resistance, offering insights for improving therapeutic outcomes and guiding future research in personalized ...
Shreya Singh Beniwal   +8 more
wiley   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao   +34 more
wiley   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra   +17 more
wiley   +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee   +19 more
wiley   +1 more source

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