Results 161 to 170 of about 4,846,243 (320)

NMR studies of inborn errors of metabolism

, 2015
Inborn errors of metabolism (IEM) are genetic inherited diseases resulting in an abnormal metabolic phenotype. NMR spectroscopy captures the metabolic profile in a rapid and extremely highly reproducible and holistic way, detecting both known and unknown
Mikros, E., Kostidis, S.
core  

Artificial Intelligence for Benign Esophageal Stricture Dilation: An Evidence‐Transferability Framework and Safety‐First Roadmap

AI &Innovation, EarlyView.
ABSTRACT Background Endoscopic dilation is first‐line therapy for symptomatic benign esophageal strictures but remains operator‐dependent. Artificial intelligence (AI) could support assessment, risk stratification, and documentation; however, evidence from adjacent tasks is often mistaken for procedure‐specific validation.
Ahmed A. Salman, Mohamed A. Salman
wiley   +1 more source

METAGENE and RAMEDIS: databases for metabolic diseases and patients with inborn errors on metabolism

, 2008
Trefz F, Scheible D, Götz H, Töpel T, Hofestädt R, Frauendienst-Egger G. METAGENE and RAMEDIS: databases for metabolic diseases and patients with inborn errors on metabolism. Journal of Inherited Metabolic Disease.
Scheible, D., Götz, H., Töpel, Thoralf, Frauendienst-Egger, G., Hofestädt, Ralf, Trefz, F.   +5 more
core  

A Pooled CRISPR Screen Reveals Genes Critical for Erythroblast Enucleation

American Journal of Hematology, EarlyView.
ABSTRACT Terminal erythroid differentiation involves dramatic cellular remodeling that culminates in the expulsion of the nucleus, a process known as enucleation. While enucleation is conserved across mammals and is crucial for the generation of fully functional erythrocytes, the mechanisms governing this process have remained largely unknown, in part ...
Marilou Tetard, Tianjian Lin, Nana A. Peterson, Rebekah C. Gullberg, Yann Le Guen, Jasmine Moshiri, John G. Doench, Elizabeth S. Egan   +7 more
wiley   +1 more source

Knowledge and attitudes about rare genetic diseases among practitioners of oral medicine/pathology in Brazil: a cross-sectional study

Frontiers in Oral Health
IntroductionThis study aimed to analyze the knowledge and attitudes of Brazilian Oral Medicine and Pathology (OM/OP) specialists about genetic diseases.MethodsA cross-sectional and descriptive study was conducted with Brazilian OM/OP specialists, using a
Samuel Trezena, Samuel Trezena, Daniella Reis Barbosa Martelli, Paulo Rogério Ferreti Bonan, Edgard Graner, Lívia Maria Ferreira Sobrinho, Faizan Alawi, Ricardo D. Coletta, Hercílio Martelli-Júnior, Hercílio Martelli-Júnior, Hercílio Martelli-Júnior   +10 more
doaj   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

Journal of Clinical Immunology, 2022
A. Bousfiha, Abderrahmane Moundir, S. Tangye, C. Picard, L. Jeddane, W. Al-Herz, C. C. Rundles, J. Franco, S. Holland, C. Klein, T. Morio, E. Oksenhendler, A. Puel, J. Puck, M. Seppänen, R. Somech, Helen C. Su, K. Sullivan, T. Torgerson, I. Meyts   +19 more
semanticscholar   +1 more source

Characteristics of motor function in children with hereditary neuromuscular disease

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective To analyze the characteristics of motor function in children with different types of hereditary neuromuscular disease (HNMD). Methods A total of 61 children with HNMD admitted to Peking University First Hospital from January 2018 to January ...
LI Wen-zhu, HUANG Zhen, FAN Yan-bin, XIONG Hui   +3 more
doaj   +1 more source

Table_1_Gene- and Disease-Based Expansion of the Knowledge on Inborn Errors of Immunity.XLSX

, 2019
The recent report of the International Union of Immunological Societies (IUIS) has provided the categorized list of 354 inborn errors of immunity. We performed a systematic analysis of genes and diseases from the IUIS report with the use of the OMIM ...
Ekaterina V. Chernyshova (7521506), Lyubov E. Salnikova (7521503), Lyudmila A. Anastasevich (7521509), Sergey S. Larin (5104478)   +3 more
core   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source