Results 291 to 300 of about 3,786,126 (364)

IUGR ambiguous genitalia in Iran: a case report. [PDF]

J Med Case Rep
Shirvani M, Alipour M, Mortajez AR.
europepmc   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Structural Basis for a Scaffolding Role of the COM Domain in Nonribosomal Peptide Synthetases

Angewandte Chemie, EarlyView.
COM domains are known as docking domains between subunits of nonribosomal peptide synthetases (NRPSs). Here, the first structure of a fused, internal COM domain with its neighboring domains is reported. Structural, biochemical and crosslinking data show that COM domains play an unexpected role in properly positioning epimerization (E) and condensation (
Julia Diecker, Benedikt Hermanns, Jennifer Rüschenbaum, René Rasche, Wolfgang Dörner, Alexander Schröder, Daniel Kümmel, Henning D. Mootz   +7 more
wiley   +2 more sources

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology, EarlyView.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci   +79 more
wiley   +1 more source

Novel tools for comparing the architecture of psychopathology between neurogenetic disorders: An application to X- versus Y-chromosome aneuploidy effects in males. [PDF]

Psychol Med
Larsen IG, Liu S, Schaffer L, Rau S, Ajumobi T, Mahony BW, Warling A, Whitman ET, Nadig A, McDermott C, Xenophontos A, Wilson K, Clasen LS, Torres EN, Blumenthal JD, Bassett DS, Raznahan A.   +16 more
europepmc   +1 more source

Endogenously Triggered DNAzyme‐Based Nanostructures for Gene‐Combined Therapy

Advanced NanoBiomed Research, EarlyView.
DNAzymes show great promise for gene regulation and therapeutic use via controlled release triggered by endogenous factors. This review summarizes recent advances in designing and constructing nanoscale platforms enabling endogenously triggered release of DNAzyme.
Theoneste Muyizere, Julien Milon Essola, Eric Nyirimigabo, Janvier Mukiza, Jean Felix Mukerabigwi   +4 more
wiley   +1 more source

Imprinting disorders as a window to understand pediatric feeding disorders. [PDF]

Orphanet J Rare Dis
Salles J, Gorse T, Benvegnu G, Raynaud JP, Tauber M.   +4 more
europepmc   +1 more source

Genetic abnormalities in catatonia: a systematic review. [PDF]

Psychol Med
Conti I, Ramachandran K, Badenoch JB, Fanshawe JB, Rengasamy E, Cross B, Rogdaki M, David AS, Santosh P, Rogers JP, Watson C.   +10 more
europepmc   +1 more source

Reduction of Ribonucleotide Reductase Subunit RRM2 Potentially Impairs Gut Function of Woody Breast Broilers

Animal Research and One Health, EarlyView.
Woody breast compromises meat quality leading to reduced consumer appeal. Although its causes are unclear, improvements observed with certain dietary supplements suggest that gut health may influence woody breast development. Ribonucleotide reductase subunit RRM2 is vital for mitochondrial function and gastrointestinal integrity, and alteration in its ...
Majid Shakeri, Elizabeth Ziabtchenko, Janghan Choi, Caitlin E. Harris, Richard J. Buhr, Trevor R. Mitchell, Byungwhi Kong, Hong Zhuang, Brian Bowker   +8 more
wiley   +1 more source