Results 141 to 150 of about 1,175,699 (274)

Correction: From sick care to healthspan: educating the longevity physician for health maintenance and health promotion. [PDF]

Biogerontology
Thor D, Barzilai D, Lyu YX, Spiru L.
europepmc   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Vaccination rates in rheumatic diseases: a cross-sectional register study on the role of patient beliefs and physician engagement. [PDF]

Rheumatology (Oxford)
Mehouachi S, Mongin D, Eperon G, Courvoisier DS, Lauper K.   +4 more
europepmc   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Stable Synapse‐Like Memory Switching in N‐Heterocyclic Carbene Monolayers

Angewandte Chemie, EarlyView.
We report a redox‐active N‐heterocyclic carbene (NHC) monolayer showing synapse‐like behavior via proton‐coupled electron transfer (PCET). These quinone‐functionalized NHCs form dense self‐assembled monolayers and highly stable molecular junctions. Bias‐driven PCET switches quinone/hydroquinone states, producing reversible hysteresis and spike‐timing ...
Ankita Das, Alessandro Borrini, Christian Gutheil, Björn Braunschweig, Billura Shakhayeva, Georgios Katsoukis, Ab F. Nieuwenhuis, Raka Ahmed, Susanne Leitherer, Gemma C. Solomon, Frank Glorius, Christian A. Nijhuis   +11 more
wiley   +2 more sources

Characterization of residual kidney function in chronic hemodialysis patients using plasma metabolomics. [PDF]

Sci Rep
Jaques DA, Boccard J, Strassel O, Monat MA, Visconti G, Jotterand Drepper V, Marangon N, Saudan P, De Seigneux S, Rudaz S, Ponte B.   +10 more
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Merging Biocatalysis and Chemocatalysis in Flow: State‐of‐the‐Art and Future Directions for Sustainable Synthesis

Angewandte Chemie, EarlyView.
This review highlights recent advances in integrating biocatalysis and chemocatalysis in continuous flow to create streamlined, sustainable processes. It examines chemo‐enzymatic cascades combining at least one enzymatic and one chemical step, discusses challenges such as enzyme immobilization, leaching, and reactor clogging, and presents solutions ...
Petros Siasiaridis, Matteo Damian, Francesco G. Mutti   +2 more
wiley   +2 more sources

Low-dose ventricular radiotherapy in wild-type transthyretin cardiac amyloidosis: a prospective, first-in-human, exploratory clinical trial. [PDF]

Int J Cardiol Heart Vasc
Guijarro D, Massie E, Zilli T, Beale A, Garibotto V, Nkoulou R, Meyer P.   +6 more
europepmc   +1 more source

Beyond Robodebt: Media Representations of Welfare and Fraud Before and After the Robodebt Royal Commission

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australia's Robodebt scheme, an automated debt recovery program introduced in 2016, was exposed by the Robodebt Royal Commission (RC) as a serious failure of public administration and source of significant harm for thousands of Australians. Through a critical discourse analysis (CDA) of Australian news media, this study explores whether the RC'
Rebecca Coleman‐Hicks, Georgia van Toorn   +1 more
wiley   +1 more source