Results 231 to 240 of about 95,867 (295)

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

2A peptides enable simplified discovery and heterologous production of fungal bioactive metabolites in Yarrowia lipolytica. [PDF]

Appl Microbiol Biotechnol
Bejenari M, Nielsen MR, Sørensen JL.
europepmc   +1 more source

Smart Integration of Structural Biology and Medicinal Chemistry to Unlock Target‐Driven Drug Discovery

Medicinal Research Reviews, EarlyView.
ABSTRACT To enhance drug discovery efforts, medicinal chemists should evaluate, filter, and utilize relevant structural information about target proteins. Acquiring and interpreting protein structures is crucial for elucidating ligand‐receptor interactions and addressing ADME‐related considerations, making it an essential aspect of medicinal chemistry.
Matteo Rossi Sebastiano, Giulia Apprato, Serena Francisco, Giuseppe Ermondi, Giulia Caron   +4 more
wiley   +1 more source

Urologic Bacteriome: The Hero or the Villain in Prostate Cancer Onset, Progression, and Treatment?

Medicinal Research Reviews, EarlyView.
ABSTRACT Prostate cancer (PCa) is the second most frequently diagnosed cancer in men worldwide and the fifth leading cause of cancer‐related mortality, presenting urgent unmet clinical needs in diagnosis and treatment. The recognition of the microbiome as a key factor in human health has prompted numerous studies, revealing an exciting new approach to ...
Lara R. S. Fonseca, Mariana Feijó, Cátia V. Vaz, Bruno J. Pereira, Sandra Laurentino, Ana Palmeira‐de‐Oliveira, Sílvia Socorro   +6 more
wiley   +1 more source

Efficient Extracellular Production of Insulin Glargine in Trichoderma reesei by an Integrative Secretion-Based Strategy. [PDF]

Microb Biotechnol
Yan A, Li X, Zhang D, Li L, Liu J, Si X, Li K, Luan Q, Liu H, Zhong Y.   +9 more
europepmc   +1 more source

Hemophilia A: An Ideal Disease for Prenatal Therapy

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemophilia A (HA) is the most common inherited coagulation defect. Current state‐of‐the‐art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal,
Christopher D. Porada, Anthony Atala, Graça Almeida‐Porada   +2 more
wiley   +1 more source

Correction: Integrons in the development of antimicrobial resistance: critical review and perspectives. [PDF]

Front Microbiol
Bhat BA, Mir RA, Qadri H, Dhiman R, Almilaibary A, Alkhanani M, Mir MA.   +6 more
europepmc   +1 more source

A Comprehensive Review of the Genetic Etiology and Management of Orofacial Clefts

Pediatric Discovery, EarlyView.
ABSTRACT Cleft lip (CL) and cleft palate (CP), collectively referred to as orofacial clefts (OFCs), are among the most common birth defects and can have significant effects on speech, nutrition, and physical and psychosocial development. Manifestation, classification, and treatment plans of OFCs are diverse and not standardized.
Emily Kim, Rebeka Dejenie, Caroline Kim, Russell Reid   +3 more
wiley   +1 more source

Engineering of multiple modules to enhance lignocellulose degradation ability in <i>Bacillus subtilis</i> using CRISPR/Cas9 system. [PDF]

Synth Syst Biotechnol
Wang Z, Liu G, Meng Z, Xu J, Tang H, Wang S, Zou C, Ma C, Yang Y.   +8 more
europepmc   +1 more source

Uric Acid in Metabolic Dysfunction‐Associated Steatotic Liver Disease

Portal Hypertension &Cirrhosis, EarlyView.
MASLD is the most prevalent chronic liver disease worldwide, yet effective pharmacological treatments remain limited. Hyperuricemia is now recognized as a key driver of hepatic steatosis, inflammation, and fibrosis, with elevated serum uric acid levels independently predicting hepatocellular carcinoma and liver‐related mortality.
Rong Wang, Zhenyu Liu, Jun Lin, Weijing Zhang, Xianzhi Liu, Tong Zhang   +5 more
wiley   +1 more source