Results 121 to 130 of about 81,682 (247)

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Strategies for inducing diabetes in laboratory animals: Advances from chemical, surgical, immunologic, dietary, and genetic approaches

Animal Models and Experimental Medicine, EarlyView.
This review summarizes the principal experimental approaches used to induce diabetes in animal models. Strategies include chemical agents (streptozotocin, alloxan, dithizone, gold thioglucose), dietary interventions (high‐fat and high‐sugar diets), surgical methods (total or partial pancreatectomy), genetic models (db/db, ob/ob, Goto‐Kakizaki [GK ...
Milad Faraji, Maedeh Faraji, Nasrin Kazemipour   +2 more
wiley   +1 more source

Distribution of Big Tau Isoforms in the Human Central and Peripheral Nervous System

Annals of Neurology, EarlyView.
Objective Tau is widely studied in neurodegeneration, yet most work has focused on canonical brain tau isoforms. A longer isoform, “big tau,” produced by inclusion of exon 4a, is expressed in the peripheral nervous system (PNS) and central nervous system (CNS) regions.
Rama Krishna Koppisetti, Nicolas R. Barthélemy, Kanta Horie, Cindy V. Ly, Kaleigh F. Roberts, Srinivas Koutarapu, Richard J. Perrin, Erin E. Franklin, Chiara Pedicone, Joshua Orrick, Justin Melendez, Timothy M. Miller, Chihiro Sato, Nupur Ghoshal, Alison M. Goate, Celeste M. Karch, Randall J. Bateman, Soumya Mukherjee   +17 more
wiley   +1 more source

Study on nutritional status and incidence of sarcopenia in elderly patients with chronic heart failure. [PDF]

Asia Pac J Clin Nutr
Song S, Du H, Lu X, Luo B, Li Z.
europepmc   +1 more source

Safety and Feasibility of Magnetic Separation‐Based Blood Purification

Advanced NanoBiomed Research, EarlyView.
We present the preclinical biological safety and translational feasibility of a magnetic nanoparticle‐based extracorporeal blood purification platform for removal of disease‐causing blood factors. ISO 10993‐compliant studies and exaggerated worst‐case exposure models demonstrate efficient nanoparticle extraction (≥99.9%), favorable biocompatibility ...
Carlos A. Mora, Laurine Rijsbergen, Jan Waskowski, Gaelle Clermont, Florian Dingreville, Chandrashekara Vishwanath, Rajesh Karunanithi, Alexander Gogos, Jean‐Claude Metzger, Manuel Baumgartner, Joerg C. Schefold, Inge K. Herrmann   +11 more
wiley   +1 more source

Effects of intermittent exposure to hypobaria and cold on the microarchitecture and morphofunctional profile of rat gastrocnemius muscle

The Anatomical Record, EarlyView.
Abstract Intermittent hypobaric hypoxia (IHH) enhances oxygen transport, muscle metabolism, and cardiovascular health; however, the combined effects of hypobaria and cold are less well understood. Exposure to these stressful environmental factors, even intermittently, can affect skeletal muscle due to its plasticity, thereby altering its metabolic and ...
Garoa Santocildes, Teresa Pagès, Ginés Viscor, Joan Ramon Torrella   +3 more
wiley   +1 more source

Role of soft tissue and bone interactions in the developmental integration and modularity of the skull in neural crest‐specific gap junction alpha‐1 knockout mice

The Anatomical Record, EarlyView.
Abstract The vertebrate skull is composed of bones derived from neural crest cells and mesoderm. The evolutionary capacity of the skull has been linked, in part, to the emergence of neural crest cells; however, this increased capacity for evolutionary change requires that variation within neural crest‐ and mesoderm‐derived bones remains partly ...
Alyssa C. Moore, Madeline Tourigny, Diana Quinonez, Kevin Barr, Matthew W. Grol, Katherine E. Willmore   +5 more
wiley   +1 more source

Pathological changes and therapeutic strategies for sarcopenia. [PDF]

EFORT Open Rev
Yang K, Peng S, Zhang C, Guo L, Liang D, Tao L.   +5 more
europepmc   +1 more source