Results 211 to 220 of about 753,681 (356)

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 135-143, January 2023., 2023
Abstract We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well‐known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome.
Nuno Maia   +30 more
wiley   +1 more source

The CASTOR Proteins Are Arginine Sensors for the mTORC1 Pathway

open access: yesCell, 2016
Lynne Chantranupong   +9 more
semanticscholar   +1 more source

Affinity‐Based Isolation and One‐Pot Analysis of Extracellular Vesicles from Biofluids Using Phase Separated Zwitterionic Coacervates

open access: yesAdvanced Science, EarlyView.
This study presents a novel method for affinity‐based isolation and analysis of extracellular vesicles from biofluids using phase‐separated zwitterionic coacervates functionalized with a membrane‐sensing peptide. This technology minimizes nonspecific binding, enabling high‐yield isolation and direct one‐pot biomarker profiling.
Francesca Torrini   +8 more
wiley   +1 more source

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin   +47 more
wiley   +1 more source

Mitochondria and neuroprotection in stroke: Cationic arginine-rich peptides (CARPs) as a novel class of mitochondria-targeted neuroprotective therapeutics [PDF]

open access: yes, 2018
Stroke is the second leading cause of death globally and represents a major cause of devastating long-term disability. Despite sustained efforts to develop clinically effective neuroprotective therapies, presently there is no clinically available ...
Anderton, Ryan S   +4 more
core   +1 more source

Coordinated Role of Autophagy and ERAD in Maintaining Neuroendocrine Function by Preventing Prohormone Aggregation

open access: yesAdvanced Science, EarlyView.
By studying the maturation mechanisms of vasopressin (AVP), this manuscript identifies FAM134B‐mediated ER‐phagy as a critical pathway for degrading both aggregated proAVP and the key ERAD component, HRD1. HRD1 induction mitigates proAVP aggregation and support AVP neuron function in the absence of autophagy.
Xuya Pan   +16 more
wiley   +1 more source

Regulatory effect of gut microbes on blood pressure

open access: yesAnimal Models and Experimental Medicine, Volume 5, Issue 6, Page 513-531, December 2022., 2022
The interaction between gut microbiota and hypertension, the genera which affect the blood pressure in taxonomic level, and the commonly used treatments to hypertension based on the gut microbes were summarized in this review. The increases of Lactobacillus, etc.
Dong Yan   +6 more
wiley   +1 more source

CPL‐Diff: A Diffusion Model for De Novo Design of Functional Peptide Sequences with Fixed Length

open access: yesAdvanced Science, EarlyView.
This study presents a diffusion model for generating functional peptide sequence lengths using mask control. The model can generate antimicrobial, antifungal, and antiviral peptides with specific lengths on demand. The model learns the structure of peptides better and generates peptides with better physicochemical properties, and the model has good ...
Zhenjie Luo   +5 more
wiley   +1 more source

The role of nitric oxide in the dorsomedial periaqueductal gray (dmPAG) column in cardiovascular responses in urethane‐anesthetized male rats

open access: yesAnimal Models and Experimental Medicine, Volume 5, Issue 6, Page 557-564, December 2022., 2022
In the current study, after anesthetized rat with urethan the femoral artery was cannulated, then its head was mounted on a stereotaxic instrument and drugs (saline‐NAME, L‐Arg, and L_Arg+ L‐NAME) microinjected into the dmPAG and cardiovascular responses that recorded by a Power lab were evaluated.
Mohammad Najaftomaraei   +5 more
wiley   +1 more source

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