Results 21 to 30 of about 575 (116)

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model. [PDF]

Ann Neurol
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.
Rawlins LE, Iffland PH, Page J, Flessner RZ, Elziny SM, Sbornova I, Babus JK, Bruckmeier SR, Parikh R, Verhoeven M, Fasham J, Leslie JS, Caswell R, Ubeyratna N, Wenger O, Scott EM, Schreiber J, Syrbe S, Klabunde-Cherwon A, Owens M, Crosby AH, Baple EL, Crino PB, KPTN Consortium.   +23 more
europepmc   +2 more sources

Ich spiele, was ich sehe

Medienimpulse, 2021
Gerade angesichts unseres Schwerpunktthemas >Mediale Gewalt als Problem< stellt Karina Kaiser-Fallent erneut medienpädagogisch wertvolle Spiele vor, die als pädagogisches Material nur darauf warten, in der konkreten Unterrichtssituation verwendet zu ...
Karina Kaiser-Fallent
doaj   +1 more source

BuPP: Drei digitale Spiele, die sich mit psychischen Problemen und Krisen auseinandersetzen

Medienimpulse, 2022
Im Folgenden werden drei digitale Spiele vorgestellt, die von der „BuPP – Bundesstelle für die Positivprädikatisierung von digitalen Spielen“ empfohlen wurden. Die BuPP ist eine Einrichtung des Bundeskanzleramts, Sektion Familie und Jugend.
Karina Kaiser-Fallent
doaj   +1 more source

Zwei besonders gelungene digitale Spiele: Spiritfarer und Splitter Critters

Medienimpulse, 2021
Im Folgenden werden zwei digitale Spiele vorgestellt, die von der „BuPP – Bundesstelle für die Positivprädikatisierung von digitalen Spielen“ empfohlen wurden. Die BuPP ist eine Einrichtung des Bundeskanzleramts, Sektion Familie und Jugend.
Karina Kaiser-Fallent
doaj   +1 more source

Improvement of dermatological symptoms in patients with Bachmann–Bupp syndrome using difluoromethylornithine treatment

Pediatric Dermatology, 2022
AbstractBachmann–Bupp syndrome (OMIM #619075) is a novel autosomal dominant disorder caused by variants in the c‐terminus of the ornithine decarboxylase 1 gene, resulting in increased levels of ornithine decarboxylase. This case report includes two patients diagnosed with Bachmann–Bupp syndrome who were treated with difluoromethylornithine through ...
Antara Afrin, Tonia S. Afshan, Elizabeth A. VanSickle, Julianne Michael, Rachel L. Laarman, Caleb P. Bupp   +5 more
openaire   +2 more sources

Collection, preparation, and biobanking of clinical specimens for analysis in polyaminopathies [PDF]

Methods in Enzymology
André S Bachmann, Caleb Bupp, Chad R Schultz   +2 more
exaly   +2 more sources

Validación de la versión breve en español de la Escala UPPS-P de impulsividad para niños y adolescentes (BUPPS-P NA) [PDF]

Revista de Psicopatología y Psicología Clínica, 2020
Validation of the Spanish version of the brief UPPS-P Impulsivity Scale for children and adolescents (BUPPS-P NA)Abstract: The Scale of Impulsivity for Children and Adolescents (UPPS-P NA) is a self-report instrument that assesses the impulsivity trait in children and adolescents. However, the UPPS-P NA does not have a short version in Spanish.
Caneto, Florencia, Pilatti, Angelina, Cupani, Marcos, Pautassi, Ricardo Marcos   +3 more
openaire   +2 more sources

Density Functional Theory, Molecular Docking Study, and <i>In Vitro</i> Antioxidant Activity of Cinnamic Acid Isolated From <i>Piper betle</i> Leaves. [PDF]

Biochem Res Int
Piper betle is an edible plant known for its potent antioxidant activity. Among its phenolic constituents, cinnamic acid has been identified as a key compound contributing to this bioactivity. Although cinnamic acid is a well‐known molecule, this study is the first to report its isolation from P.
Tumilaar SG, Hardianto A, Dohi H, Kurnia D.   +3 more
europepmc   +2 more sources

Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics

Biomolecules, 2023
Insulin is amongst the human genome’s most well-studied genes/proteins due to its connection to metabolic health. Within this article, we review literature and data to build a knowledge base of Insulin (INS) genetics that influence transcription ...
Taylor W. Cook, Amy M. Wilstermann, Jackson T. Mitchell, Nicholas E. Arnold, Surender Rajasekaran, Caleb P. Bupp, Jeremy W. Prokop   +6 more
doaj   +1 more source

GPI‐anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?

Clinical Genetics, Volume 104, Issue 5, Page 598-603, November 2023., 2023
Glycosylphosphatidylinositol anchoring disorders (GPI‐ADs) are complex neurodevelopmental syndromes with a high risk of premature mortality. We have shown that patients with GPI‐ADs are at risk of developing childhood‐onset cardiomyopathy; an overlooked and potentially fatal feature.
Allan Bayat, Tobias Lindau, Angel Aledo‐Serrano, Antonio Gil‐Nagel, Ivo Barić, Dorotea Bartoniček, Josipa Mateševac, Danijela Petković Ramadža, Tamara Žigman, Silvija Pušeljić, Sanja Dorner, Caleb Bupp, Seth Devries, Rikke Steensbjerre Møller   +13 more
wiley   +1 more source