Results 21 to 30 of about 839 (154)

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review. [PDF]

Am J Med Genet A
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 ...
VanSickle EA, Sarasua SM, Lowe T, Farrell CL, Boccuto L, Schwartz C, Pegg AE, Peron A, Faundes V, Ganapathi M, Chung WK, Ziegler A, Hofstede F, Prouteau C, Steindl K, Olson C, Devinsky O, Mastracci TL, Casero RA, Stewart TM, Gilmour S, Koerner T, Kutler MJ, Rajasekaran S, Michael J, Bachmann AS, Bupp CP.   +26 more
europepmc   +2 more sources

Correction to "Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome". [PDF]

Am J Med Genet A, 2023
europepmc   +2 more sources

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

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

Methods in Enzymology
Elizabeth A Vansickle, Chad R Schultz, André S Bachmann   +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

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

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

Bis(chlorido)tin(IV)meso‐substituted Porphyrins‐Characterization and Solubility

European Journal of Inorganic Chemistry, Volume 26, Issue 28, October 2, 2023., 2023
Synthetic pathway of various literature known bis(chlorido)tin(IV) meso‐tetraarylporphyrins (R*=H, Me, t‐Bu) as well as novel bis(chlorido)tin(IV) meso‐tetraarylporphyrin (R*=n‐Bu) and bis(chlorido)tin(IV) meso‐tetraalkylporphyrins (R*=Me, n‐Pr, n‐Bu) and investigation of their solubility behavior in accordance to their functional group in meso ...
Doris M. Grössl, Anna‐Viktoria Hafner, Roland C. Fischer, Robert Saf, Ana Torvisco, Frank Uhlig   +5 more
wiley   +1 more source