Results 281 to 290 of about 127,256 (329)

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

Developmental Medicine &Child Neurology, EarlyView.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus has been implicated in a mitochondrial disorder characterized by prenatal or ...
Pauline Planté‐Bordeneuve, Claire‐Marine Bérat, Sylvain Hanein, Cyril Gitiaux, ATAD3 Study Group, Julie Steffann, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia, Brian Sperelakis‐Beedham, Zahra Assouline, Marie‐Thérèse Abi‐Warde, Rukhshona Abdullazoda, Agnès Guichet, Céline Bris, Aurélien Caux, Marlène Rio, Jérémy Bertrand, Pauline Gaignard, Alice Lepelley, Arnold Munnich, Manuel Schiff, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia   +26 more
wiley   +1 more source

Amino acid substitutions in PBP3 in Haemophilus influenzae strains, their phenotypic detection and impact on resistance to β-lactams. [PDF]

J Antimicrob Chemother
Jakubu V, Cechova M, Musilek M, Malisova L, Zapletalova B, Zemlickova H.   +5 more
europepmc   +1 more source

Re‐examining investor sentiment and stock returns: A replication and extension of Baker and Wurgler (2006)

Economic Inquiry, EarlyView.
Abstract This study replicates and extends Baker and Wurgler's (2006) analysis on investor sentiment's impact on stock returns. We confirm their findings by demonstrating the significant cross‐sectional effect of sentiment in both their original sample (1963–2002) and a new sample (2002–2023).
Kaiwen Leong, Dan Li, Huailu Li, Chuangwei Peng, Zhanyu Xu   +4 more
wiley   +1 more source

Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications. [PDF]

Bioinform Adv
De La Vega FM, Irvine SA, Anur P, Potts K, Kraft L, Torres R, Kang P, Truong S, Lee Y, Han S, Onuchic V, Han J.   +11 more
europepmc   +1 more source

Impact of temperature and hypoxia on the size and survival of aquatic insects

Ecological Entomology, EarlyView.
Understanding size–temperature relations is crucial for the conservation of aquatic insects. We hypothesised that the combination of high temperature and hypoxia will lead to a reduction in the size of larvae and pupae of aquatic insects (non‐biting midge, Chrionomus riparius). We showed that Chironomus riparius pupae were significantly smaller at 30°C
Viktor Baranov, Julia Losana‐García, Juan Pascual, Soledad Fernández Bermejo, Ladislav Hamerlik   +4 more
wiley   +1 more source

Identification of novel NUP98::RARA fusion transcripts in acute promyelocytic leukemia with i(17)(q10) abnormality. [PDF]

Am J Cancer Res
Tu J, Wang H, Wang Y, Tong H.
europepmc   +1 more source

AMRrounds: Carbapenem-resistant <i>Acinetobacter baumannii</i> in the intensive care unit-when resistance meets severity. [PDF]

JAC Antimicrob Resist
Mangioni D, Abbruzzese C, Teri A, Bonaiuto C, Pecere A, Alteri C, Canetta C, Muscatello A, Rossolini GM, Callegaro A, Grasselli G, Sottocorno M, Panigada M, Bandera A.   +13 more
europepmc   +1 more source

Editorial: Brain reward and aversion circuits: progress review on current and future breakthroughs. [PDF]

Front Behav Neurosci
Covey DP, Franklin KBJ.
europepmc   +1 more source

Evaluation of MicroScan and VITEK 2 systems for susceptibility testing of Enterobacterales with updated breakpoints. [PDF]

J Clin Microbiol
Richter SS, Dominguez EL, Hupp AA, Griffis M, MacVane SH.   +4 more
europepmc   +1 more source

Apparent Saturation of Branched-Chain Amino Acid Catabolism After High Dietary Milk Protein Intake in Healthy Adults.

J Clin Endocrinol Metab
Newton-Tanzer E, Can SN, Demmelmair H, Horak J, Holdt L, Koletzko B, Grote V.   +6 more
europepmc   +1 more source