Results 131 to 140 of about 87,037 (303)

A New Three-Hit Mouse Model of Neurodevelopmental Disorder with Cognitive Impairments and Persistent Sociability Deficits

Brain Sciences
Background/Objectives: Cognitive deficits and negative symptoms associated with schizophrenia are poorly managed by current antipsychotics. In order to develop effective treatments, refining animal models of neurodevelopmental disorders is essential ...
Imane Mouffok, Caroline Lahogue, Thomas Cailly, Thomas Freret, Valentine Bouet, Michel Boulouard   +5 more
doaj   +1 more source

Interactions between maternal provisioning and natural selection on seed mass fluctuate across heat waves

American Journal of Botany, EarlyView.
Abstract Premise Changing climates are leading to more frequent and severe heat waves, potentially threatening plant populations. Both acclimation to stress and selection for heat‐escape or heat‐resistance phenotypes occur during heat waves. However, plastic responses and selection do not necessarily interact cohesively—even producing trait responses ...
Lana F. Gaspard, Elissa Harb, Stacy D. Holt Jr., Courtney M. Patterson, Nicholas J. Kooyers   +4 more
wiley   +1 more source

Two decades of resurrection studies: What have we learned about contemporary evolution of plant species?

American Journal of Botany, EarlyView.
Abstract Premise Global climate change has altered the eco‐evolutionary trajectories of plant species, leading to observed shifts in phenotypes, such as earlier flowering. However, disentangling the contributions of plasticity and adaptation to trait changes remains challenging.
Lillie K. Pennington, Seema N. Sheth, Steven J. Franks, Jill T. Anderson, Elena Hamann   +4 more
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

The lived experiences of mothers regarding care of their hospitalised preterm babies

, 2011
Includes abstract.Includes bibliographical references (leaves 106-121).Trends in neonatal care aim to minimise separation of the baby from the mother in an effort to promote the well-being of both the mother and the baby, with proven positive effects on ...
Ncube, Rosinah Kereemang
core  

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Maternal separation can affect the reproductive system by inflammasome activation in female mice [PDF]

, 2019
Objective The aim of this study is to investigate effect of maternal separation stress on the ovarian function in adult female mice. Methods In this study, maternal separation in pups was performed during post-natal days 2-14.
Amini-Khoei, Hossein, Dehpour, Ahmad Reza, Khosravizadeh, Zahra, Khodamoradi, Kajal, Hassanzadeh, Gholamreza, Hosseini, Seyed Reza   +5 more
core  

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source