Results 41 to 50 of about 1,245,890 (249)

Implications of Genomic Newborn Screening for Infant Mortality

International Journal of Neonatal Screening, 2023
Technological advances and decreasing costs of genomic sequencing have paved the way for the increased incorporation of genomics into newborn screening (NBS).
Monica H. Wojcik, Nina B. Gold
doaj   +1 more source

Cell‐Selective Delivery of RIBOTACs via an Anti‐EGFR Nanobody for Pancreatic Cancer Treatment

Advanced Science, EarlyView.
This study introduces an innovative strategy for the tumor‐selective catalytic degradation of oncogenic non‐coding RNA by interfacing a ribonuclease‐recruiting small molecule (RIBOTAC) with an EGFR‐targeting nanobody via a CTSB (Cathepsin B)‐responsive linker.
Tianli Luo, Yijuan Wang, Dengwang Chen, Yinghan Zhang, Yi Shuai, Hualiang Yao, Tao Jiang, Hang Jiang, Ming Zhong, Xiangeng Wang, Ziwei Wang, Chenchen Xu, Ajay Goel, Hoi Tang MA, Feng Gao, Xin Wang   +15 more
wiley   +1 more source

Present status of newborn screening in Bangladesh through the participation of health professionals

Journal of Advanced Biotechnology and Experimental Therapeutics, 2023
The idea of newborn screening is to discover potentially fatal or disabling problems in infants as early as possible, usually, before the baby shows any signs or symptoms of an illness or condition.
Sayedatun Nesa Sumaia, Riyan Al Islam Reshad, Fawzia Tabassum, Sabrina Khan Mim, Mohammad Golam Rob Mahmud, Chowdhury Muhammad Omar Faruque, Gokul Chandra Biswas, Md. Faruque Miah   +7 more
doaj   +1 more source

Newborn Screening for Glutaric Aciduria-II: The New England Experience

, 2015
Newborn screening (NBS) using tandem mass spectrometry (MS/MS) permits detection of neonates with Glutaric Aciduria-Type II (GA-II). We report follow-up of positive GA-II screens by the New England Newborn Screening Program.
Neilan, E., James, P., Sweetser, D. A., Garganta, C. L., Sahai, Inderneel, Zytkovicz, Thomas H., Phornphutkul, C., Levy, H. L., Martin, M., Bailey, J., Eaton, Roger B.   +10 more
core   +1 more source

Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number [PDF]

, 2022
Promising treatments for spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, prompted calls for inclusion in newborn screening (NBS).
Barton, Samantha, Kordowska, Jolanta, Hale, Jaime E, Comeau, Anne Marie, Kumar, Binod, Eaton, Roger B., Counihan, Anne M.   +6 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

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

American 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, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy

International Journal of Neonatal Screening, 2017
Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, with an estimated frequency of 1:5000 live births. The impact of the disease presents as early as infancy with significant developmental delays, and ultimately ...
Samiah A. Al-Zaidy, Michele Lloyd-Puryear, Annie Kennedy, Veronica Lopez, Jerry R. Mendell   +4 more
doaj   +1 more source

Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm

, 2012
OBJECTIVE: To quantitate the proportion of infants identified through cystic fibrosis (CF) newborn screening (NBS) by an immunoreactive trypsinogen (IRT)/DNA screening algorithm who have an unclear diagnosis as defined by the findings of an elevated IRT ...
Parad, Richard B., Comeau, Anne Marie
core   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source