Results 121 to 130 of about 173,603 (282)

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Desymmetrization of Malonic Monoesters and Malonic Acids via Enantioselective Catalytic C(sp3)─H Oxidation

Angewandte Chemie, EarlyView.
Manganese‐catalyzed enantioselective C(sp3)─H lactonization with hydrogen peroxide enables the direct desymmetrization of malonic monoesters and malonic acids, providing highly enantioenriched γ‐ and δ‐lactones (up to >99% ee) ABSTRACT Malonate derivatives are readily available starting materials widely employed in the synthesis of bioactive compounds.
Nikos Siakavaras, Arnau Call, Massimo Bietti, Miquel Costas   +3 more
wiley   +2 more sources

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

Depolymerization and Reuse of Polycarbonates: Emerging Classes, Mechanisms and Challenges

Angewandte Chemie, EarlyView.
This review collects the latest developments in the area of chemical and catalytic polycarbonate recycling strategies and includes the controlled degradation of similar types of macromolecules. Apart from the main strategies for deconstruction, the key mechanistic features of these depolymerization processes are also discussed together with the ...
Davide Rigo, David H. Lamparelli, Antonio Buonerba, Carmine Capacchione, Arjan W. Kleij   +4 more
wiley   +2 more sources

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Digital Hyperleaders. Communication Strategies on Social Networks at the 2019 European Elections

Italian Political Science, 2019
This article investigated the degree of development of the electoral communication of Italian leaders in a context of second-rate elections - as are those for the European Parliament - but with significant national importance. The aim was to verify which
Cristopher Cepernich, Roberta Bracciale
doaj  

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington, Bernadette Sebar, Jessica Lee   +2 more
wiley   +1 more source

The importance of electoral rule: Evidence from Italy [PDF]

We employ bootstrap methods (Efron (1979)) to test the eect of an important electoral reform implemented in Italy from 1993 to 2001, that moved the system for electing the Par- liament from purely proportional to plurality rule (for 75% of the seats). We
Andrea Monticini, Massimo Bordignon
core  

The Culturally and Linguistically Diverse Workforce in Early Childhood Education: Findings From a National Survey of Australian Centre‐Based Services

Australian Journal of Social Issues, EarlyView.
ABSTRACT Culturally responsive early childhood education (ECE) environments can increase child and family participation, enhance service quality, and improve developmental outcomes for children. Educators from culturally and linguistically diverse (CALD) backgrounds contribute to inclusive ECE and are crucial for addressing workforce shortages.
Sene Gide, Linda Harrison, Sandie Wong, Frances Press, Belinda Davis   +4 more
wiley   +1 more source