Results 141 to 150 of about 1,075,356 (291)

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto   +5 more
wiley   +1 more source

Tratamento endovascular do aneurisma da aorta abdominal : estudo experimental [PDF]

open access: yes, 2000
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde.Avaliar a factibilidade e a eficácia do tratamento endovascular com à utilização de endopróteses auto-expansíveis em um modelo experimental de Aneurisma de Aorta
Rampinelli, Amandio
core  

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot   +10 more
wiley   +1 more source

Evaluation of therapeutic effects of D‐limonene following orchiopexy in the rat model of cryptorchidism

open access: yesAnimal Models and Experimental Medicine, EarlyView.
D‐limonene supplementation enhances testicular recovery following orchiopexy in a rat model of bilateral cryptorchidism. Treatment with D‐limonene reduces oxidative stress (↓MDA, ↑SOD, ↑GPx, ↑TAC), downregulates pro‐apoptotic proteins (↓TNF‐α, ↓BAX, ↓Caspase‐3), and upregulates anti‐apoptotic Bcl‐2 expression.
Arman Norouzi‐Ghalehbala   +6 more
wiley   +1 more source

Refining OVCAR‐3 xenograft models of peritoneal carcinomatosis in nu/nu mice: Comparative intraperitoneal implantation strategies and the role of basement membrane matrix

open access: yesAnimal Models and Experimental Medicine, EarlyView.
A refined murine model of advanced ovarian cancer was established by comparing localized preperitoneal implantation and intraperitoneal injection of OVCAR‐3Luc cells. While localized implantation showed limited tumor persistence, intraperitoneal delivery with BME produced sustained diffuse dissemination confirmed by BLI and histology, providing a ...
M. Teresa Perelló‐Trias   +5 more
wiley   +1 more source

Reframing the Gut–Brain Axis: The Gut Wall as a Neural Immune Interface in Multiple Sclerosis and Autoimmune Neurological Diseases

open access: yesAnnals of Neurology, EarlyView.
Gut wall physiology in multiple sclerosis (MS) and autoimmune neurologic diseases remains underexplored but may span gut barrier dysfunction, enteric glial targeting, mucosal immune dysregulation, and autoimmune targets within the enteric nervous system (ENS).
Federico Montini   +4 more
wiley   +1 more source

Development of a Parsimonious Sagittal Abdominal Diameter‐Based Model for Estimating Visceral Fat Area in Central Obesity Assessment [PDF]

open access: bronze
Chao Li   +11 more
openalex   +1 more source

Biomimetic Nanofiber Scaffold Coated With Acellular Matrices for Uterine Myometrial Tissue Engineering

open access: yesAdvanced NanoBiomed Research, EarlyView.
Schematic representation of acellular matrix generation from human uterine fibroblast cells, coating on polycaprolactone electrospun nanofibers, and subsequent in vitro and in vivo characterization. A tissue‐engineered scaffold tailored for uterine myometrium‐specific regeneration is designed. The electrospinning technique was used to fabricate aligned
Srividya Hanuman   +3 more
wiley   +1 more source

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