Results 31 to 40 of about 49,514 (255)

Loss of p53 Causes Stochastic Aberrant X-Chromosome Inactivation and Female-Specific Neural Tube Defects

Cell Reports, 2019
Summary: Neural tube defects (NTDs) are common birth defects in humans and show an unexplained female bias. Female mice lacking the tumor suppressor p53 display NTDs with incomplete penetrance. We found that the combined loss of pro-apoptotic BIM and p53
Alex R.D. Delbridge, Andrew J. Kueh, Francine Ke, Natasha M. Zamudio, Farrah El-Saafin, Natasha Jansz, Gao-Yuan Wang, Megan Iminitoff, Tamara Beck, Sue Haupt, Yifang Hu, Rose E. May, Lachlan Whitehead, Lin Tai, William Chiang, Marco J. Herold, Ygal Haupt, Gordon K. Smyth, Tim Thomas, Marnie E. Blewitt, Andreas Strasser, Anne K. Voss   +21 more
doaj   +1 more source

NEURAL TUBE DEFECTS AMONG INFANTS DELIVERED OF MOTHERS WITH TOBACCO SMOKE EXPOSURE [PDF]

The Medical Journal of Basrah University, 2007
Objective: to verify the occurrence of congenital neural tube anomalies among the newborns of pregnant women who had experienced exposure to tobacco smoke.
Abdul-Kareem A. Mahmood
doaj   +1 more source

From energy provision to protein synthesis: Tunnelling nanotubes as mediators of intercellular metabolic cooperation in cancer

FEBS Open Bio, EarlyView.
The cytoskeleton‐mediated transport of mitochondria via tunnelling nanotubes restores respiration, increases ATP production, rescues cells from apoptosis, activates the AKT/mTOR signalling pathway, promotes cell migration and invasiveness, contributes to cancer progression and treatment resistance.
Stanislava Martínková, Jan Trnka
wiley   +1 more source

Accurate and noninvasive prostate cancer detection using plasma‐derived extracellular vesicle RNA

FEBS Open Bio, EarlyView.
Plasma extracellular vesicles were captured with WGA‐conjugated magnetic beads and profiled for RNA biomarkers. A three‐RNA panel (NM_024955, NR_047469, and NR_002564) distinguished prostate cancer from healthy controls and benign prostatic hyperplasia, supporting a simple, noninvasive approach to improve prostate cancer detection.
Hanping Wei, Haoran Wu, Wei Feng
wiley   +1 more source

Neural Tube Defects in Iraq

مجله كليه طب الكندي, 2013
1. Embryonic Origin of Neural Tube Defects. Insaf Jasim Mahmoud 2. Etiology of Neural Tube Defectss. Ali Abdul Razzak Obed 3. Epidemiology of Neural Tube Defects in Iraq. Mahmood Dhahir Al-Mendalawi 4. Surgical Management of Neural Tube Defects.
Mahmood Dhahir Al-Mendalaw, Insaf Jasim Mahmoud, Ali Abdul Razzak Obed, Laith Thamer Al-Ameri   +3 more
doaj  

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer, Marie Obrecht, Charlotte de Maeseneire, Charlotte Damien, Chantal Depondt, Lorenzo Ferlini, Estelle Rikir, Filippo Annoni, Fabio Silvio Taccone, Nicolas Mavroudakis, Benjamin Legros, Nicolas Gaspard   +11 more
wiley   +1 more source

Magnesium‐Based Transient Bioelectronics, Bio‐Optics and Bio‐Scaffolds

Advanced Functional Materials, EarlyView.
This paper reviews the state of the art and recent advances in magnesium‐based thin‐film, foils, and scaffolds for applications in transient bio‐optics, bioelectronics and tissue engineering. The design principles, fabrication methods, material properties, and integration strategies are discussed in detail.
Massimo Mariello, Yves Leterrier
wiley   +1 more source