Results 121 to 130 of about 13,694 (255)

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Multimodality approach to the no-entry ventricle for VT ablation: first European experience of the RA-to-LV percutaneous access-a case report. [PDF]

Eur Heart J Case Rep
Sanaú J, García JR, Comín-Colet J, Anguera I, Dallaglio PD.   +4 more
europepmc   +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

Artificial Intelligence to Predict Major Arrhythmic Events Based on Left Ventricular Electroanatomic Mapping Data. [PDF]

J Clin Med
Valeri Y, Compagnucci P, Narducci M, Veri P, Pecorari E, Concetti I, Santagata G, Volpato G, Campanelli F, D'Angelo L, Apicella M, Schillaci V, Sgarito G, Conti S, Scacciavillani R, Solimene F, Pelargonio G, Russo AD, Piva F, Casella M.   +19 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Carbon Dioxide Insufflation for Assessment of Pericardial Adhesions and Informed Decision-Making for Percutaneous Epicardial Access in a Patient With Prior Cardiac Surgery. [PDF]

J Arrhythm
Kasai Y, Kitai T, Morita J, Hama G, Yamashita K.   +4 more
europepmc   +1 more source

Repeated instillations of bleomycin in male mice induce a perivascular remodeling at distance of fibrotic areas in the context of progressive pulmonary fibrosis

Animal Models and Experimental Medicine, EarlyView.
We established a model of progressive pulmonary fibrosis via repeated intratracheal instillation (ITI) of leomycin (BLM) (A). Perivascular remodeling was observed in areas distant from the fibrotic areas and lesions induced by repeated ITI of BLM simulate those observed in IPF patients (B). Thus, this model has the capacity to track and investigate the
Céline‐Hivda Yegen, Zakaria Maakoul, Dominique Marchant, Patrice Callard, Julia Bourse, Jean‐François Bernaudin, Hilario Nunes, Carole Planès, Emilie Boncoeur, Nicolas Voituron   +9 more
wiley   +1 more source

Photon-Counting Detector Computed Tomography Depicts a Ventricular Tachycardia Substrate: Periaortic Septal Intramural Late Iodine Enhancement. [PDF]

JACC Case Rep
Tateishi R, Nishimura T, Tao S, Yokoyama K, Hada H, Miyazaki S, Sasano T.   +6 more
europepmc   +1 more source

Refining a preclinical model of viral myocarditis in accordance with biotech standards

Animal Models and Experimental Medicine, EarlyView.
This study aimed to refine a murine model of Coxsackievirus B3‐induced myocarditis by integrating dietary and imaging innovations to improve animal welfare, data quality, and clinical applicability. The refined diet significantly reduced animal health burden, reduced weight loss, and stabilized blood glucose during development of cardiac inflammation ...
Jonas Stewen, Julia Riedesel, Juliane Stein, Brandon H. Greene, Svenja Rohde, Sonja Suess, Bjoern Keiner, Priya Panjwani, Padmapriya Ponnuswamy, Juan E. Camacho Londoño   +9 more
wiley   +1 more source