Results 51 to 60 of about 1,360,274 (268)

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +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

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

Reducing False Positives in Newborn Screening: The Role of Perinatal Factors in the Dutch NBS Program

Metabolites
Background/Objectives: Dutch newborn screening is an important public health program designed to detect conditions early in life, enabling timely interventions that can prevent mortality, morbidity, and long-term disabilities. However, the program also faces certain challenges.
Nils W F, Meijer, Rose E, Maase, Patricia L, Hall, Wouter F, Visser, Klaas, Koop, Annet M, Bosch, M Rebecca, Heiner-Fokkema, Monique G M, de Sain-van der Velden, , The Clir-Nbs Group   +8 more
openaire   +3 more sources

Biomaterials for modulating cellular responses of endogenous tendon stem/progenitor cells: A promising avenue for tendon regeneration

BMEMat, EarlyView.
This review comprehensively summarizes emerging biomaterial‐based strategies and underlying mechanisms for modulating endogenous tendon stem/progenitor cells (TSPCs). It offers the most recent insights into TSPC physiology and potential applications of tissue engineering and regenerative medicine in tendons.
Zeyu Zhu, Renwang Sheng, Mumin Cao, Ludvig J. Backman, Yucheng Gao, Hao Wang, Cheng Zhang, Jialin Chen, Wei Zhang, Yunfeng Rui   +9 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

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

Siblings With Duchenne Muscular Dystrophy: Exploring Diagnosis Age and Disease Progression in a Genetic Therapy‐Naïve Cohort

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction Duchenne muscular dystrophy (DMD) is the most common pediatric muscular dystrophy. Typically, there is a ~ 2‐year delay between symptom onset and diagnosis. Limited data on outcomes in early‐diagnosed individuals have limited the understanding of the clinical impact of early diagnosis.
Vaishnavi Brahmamdam, Cuixia Tian, Niki Armstrong, Valentina Pilipenko, Lisa J. Martin, Alexander Zygmunt, Irina Rybalsky, Lisa Reebals, Chinmayee B. Nagaraj   +8 more
wiley   +1 more source

Population-based, first-tier genomic newborn screening in the maternity ward

Nature Medicine
The rapid development of therapies for severe and rare genetic conditions underlines the need to incorporate first-tier genetic testing into newborn screening (NBS) programs.
F. Boemer, Kristina Hovhannesyan, F. Piazzon, Frédéric Minner, Myriam Mni, Valérie Jacquemin, D. Mashhadizadeh, Noor Benmhammed, Vincent Bours, Adeline Jacquinet, Julie Harvengt, Saskia Bulk, V. Dideberg, Laura Helou, L. Palmeira, T. Dangouloff, Serpil Alkan, Christophe Barrea, P. Bartoszek, É. Bequet, Hedwige Boboli, R. Bruninx, L. Collard, A. Daron, F. Debray, M. Dresse, J. Dubru, Iulia Ebetiuc, Benoît Florkin, C. Jacquemart, C. Kempeneers, Nadège Hennuy, M. Lebrethon, Marie Léonard, P. Leroy, A. Lhomme, J. Lombet, Sabine Michotte, A. Milet, Anne-Simone Parent, Vincent Rigo, M. Seghaye, S. Vaessen, Laurent Servais   +43 more
semanticscholar   +1 more source