Results 221 to 230 of about 629,937 (377)

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The TBX4 gene has a critical importance in the development of the lower limbs and lungs. Pathogenic variants in this gene are associated with a variable spectrum of skeletal anomalies of the lower limb and pneumological manifestations, with dominant or recessive inheritance.
Simone Carbonera, Laura Scelsi, Alessandra Greco, Sandra Schirinzi, Annalisa Turco, Antonella Casella, Marta Carboni, Gaia Visani, Mauro Acquaro, Stefano Ghio, Silvia Kalantari, Enza Maria Valente, Fabio Sirchia   +12 more
wiley   +1 more source

Comorbidity patterns and immune-metabolic differences in patients with acute-episode of schizophrenia spectrum disorders. [PDF]

Schizophrenia (Heidelb)
Wu G, Dong Z, Li Z, Zhao Q, Chen S, Dong Q, Huang L, Zhang Y, Wang X, Chen S, Liu H, Sun Z, Ban S, Tian B, Tan Y.   +14 more
europepmc   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

A Review of Desmopressin Use in Bleeding Disorders: An Unsung Hero? [PDF]

Biomolecules
Reardon B, Pasalic L, Favaloro EJ.
europepmc   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Luspatercept in Transfusion‐Dependent β‐Thalassemia: The Benefit Is Real, and So Are the Risks

American Journal of Hematology, EarlyView.
Khaled M. Musallam
wiley   +1 more source

Therapeutic targeting of myeloid cells in liver fibrosis: Mechanisms and clinical prospects

Animal Models and Experimental Medicine, EarlyView.
This review systematically summarizes the origin, recruitment, and differentiation regulation mechanisms of myeloid cells in driving hepatic fibrosis progression. By targeting these three critical phases, potential therapeutic strategies for liver fibrosis can be explored.
Yue Wang, Yiming Liu, Dan Chen, Leiming Liu, Leimin Sun, Lingling Zhang   +5 more
wiley   +1 more source

Not All Hereditary Iron Overload Is Hemochromatosis: A Case of Hereditary Xerocytosis Unmasked by Blood Smear Morphology

American Journal of Hematology, EarlyView.
María‐Angustias Molina‐Arrebola, Barbara J. Bain   +1 more
wiley   +1 more source

Research advances in dysphagia animal models

Animal Models and Experimental Medicine, EarlyView.
This review systematically summarizes the establishment, evaluation, and detection of dysphagia animal models in stroke, Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS) in three kinds of experimental animals (including rodents, nonhuman primates, and other mammals), providing a basis for the selection of appropriate animal models of ...
Junhui Bai, Keling Cheng, Nannan Zhang, Yunfang Chen, Jun Ni, Zhiyong Wang   +5 more
wiley   +1 more source

Ex Vivo Thrombocyte Function and Its Response to NO/Sildenafil in Patients Undergoing Hemodialysis. [PDF]

J Clin Med
Bonell V, Schmaderer C, Lorenz G, Günthner R, Angermann S, Bachmann Q, Küchle C, Renders L, Heemann U, Kessler T, Kemmner S.   +10 more
europepmc   +1 more source