Results 71 to 80 of about 92 (92)

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, Volume 99, Issue 5, Page 1287-1302, May 2026.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

Manganese Porphyrin‐Catalyzed One‐Pot Oxidation of Lupeol: Efficient Conversion of Its Terminal Alkene Into Carboxylic Acids

Chemistry &Biodiversity, Volume 23, Issue 5, May 2026.
Manganese porphyrin catalyst enables green PhI(OAc)2 oxidation of lupeol in ethyl acetate, achieving 94% conversion and the formation of eight products, including selective C20 olefin transformations and one‐pot conversion of the isopropenyl group to carboxylic acids, all without the need of C3‐OH protection step.
Leila Renan Oliveira, Pedro Fonseca‐Pinheiro, Lucienir Pains Duarte, Diogo Montes Vidal, Grasiely Faria de Sousa, Dayse Carvalho da Silva Martins   +5 more
wiley   +1 more source

The Burden of Disease of Treatment‐Seeking Patients With a Cluster‐C Personality Disorder in the Netherlands; Quality of Life, Functioning, and Societal Costs

Journal of Clinical Psychology, Volume 82, Issue 5, Page 775-789, May 2026.
ABSTRACT Cluster‐C personality disorders (PDs) are common in the general population but often overlooked in scientific research and clinical practice. An important step to increase awareness for timely diagnosis and treatment of cluster‐C PDs is to investigate the burden of disease in terms of quality of life (QoL), daily functioning and the associated
Iuno Z. Groot, Arnoud Arntz, Carlijn J. M. Wibbelink, Bas Verhoeven, Nathan R. Bachrach, Silvia M. A. A. Evers   +5 more
wiley   +1 more source

Confirmation of Exome Sequencing Results Using Sanger Sequencing—Considerations in a Low‐Resource Setting

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
In our African developmental disorder cohort, high confidence variants in the first 64 probands that underwent ES were confirmed using Sanger sequencing. Our study suggests that confirming exome sequencing results with an orthogonal approach like Sanger sequencing is unnecessary in a resource‐limited setting, when robust, context‐informed quality ...
Nadja Louw, Samantha Schnell, Mhlekazi Molatoli, Ingrid Smit, Robyn Kerr, Koen Devriendt, Aimé Lumaka, Amanda Krause, Nadia Carstens, Zané Lombard, for DDD‐Africa as members of the H3Africa Consortium   +10 more
wiley   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 914-923, May 2026.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

The Contribution to the Assignment of Defined Daily Dose (DDD) to Antineoplastic Drugs of the Italian Working Group on DDD

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Purpose To report the experience of the Italian Working Group on DDD (Ita‐DDD‐wg) in assigning DDDs to a list of antineoplastic agents. Methods Active substances from the ATC L01 group with no assigned DDD and reimbursed at least once during 2021 by the Italian Healthcare Service were identified.
Angela Boccia, Giulia Hyeraci, Anna Girardi, Rosa Gini, Gianluca Trifirò, Ylenia Ingrasciotta, Andrea Spini, Valentina Ientile, Elisabetta Poluzzi, Giampiero Mazzaglia, Ippazio Cosimo Antonazzo, Casula Manuela, Elena Tragni, Olivia Leoni, Arianna Mazzone, Michele Ercolanoni, Martina Zanforlini, Ursula Kirchmayer, Belleudi Valeria, Marco Finocchietti, Francesco Barone‐Adesi, Giuseppe Roberto   +21 more
wiley   +1 more source

Time Windows Used When Identifying Current Drug Use and Polypharmacy

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Purpose The length of the time window used to assess “current drug use” or “number of medications used” will influence the estimates hereof; however, no consensus exists on the optimal width of such time windows. We aimed to explore how the estimated prevalence of drug use in general, and of polypharmacy in particular, is affected by ...
Sabrina Giometto, Mette Reilev, Martin Thomsen Ernst, Henrik Støvring, Anton Pottegård   +4 more
wiley   +1 more source

Organochlorine Pesticide Residues in Raw Milk Samples Collected From Goat's Dairy Farms of Kastamonu Province, Türkiye

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
This study analyzed 20 goat milk samples from Kastamonu, Türkiye, detecting methoxychlor, β‐endosulfan, and p,p'‐DDE residues. While methoxychlor exceeded maximum residue limits (MRL) in 13 of 14 positive samples, other residues remained below established thresholds.
Sedat Gökmen, Nurcan Demir
wiley   +1 more source

GLP‐1 Receptor Agonists in Brazil: Landscape of Consumption, Safety and Regulation

Diabetes, Obesity and Metabolism, Volume 28, Issue 5, Page 4185-4193, May 2026.
ABSTRACT Background The escalating use of Glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) is reshaping pharmaceutical consumption patterns and posing unprecedented challenges to healthcare systems worldwide. This study analyzes the landscape of GLP‐1 RA consumption, safety monitoring and regulatory oversight in Brazil.
Renato Lopes Hurtado, Angélica Amorim Amato, Hugo de Luca Corrêa, Dâmaris Silveira   +3 more
wiley   +1 more source

A Growth Chart for KBG Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1162-1166, May 2026.
Karen J. Low, Elena Martinez‐Cayuelas, Berta Almoguera, Purin Marin‐Reina, Allan Bayat, Charlotte W. Ockeloen, Tim J. Cole   +6 more
wiley   +1 more source