Results 251 to 260 of about 129,319 (328)

Genetic and Structural Variations in Czech Patients With Congenital Myopathies

Clinical Genetics, EarlyView.
We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Jana Zídková, Barbora Lauerová, Lívie Mensová, Tereza Kramářová, Johana Kopčilová, Kamila Réblová, Magdaléna Soukup Vodičková, Martina Hujňáková, Jana Haberlová, Marie Rohlenová, Radim Mazanec, Jana Šoukalová, Renata Gaillyová, Emílie Vyhnálková, Miroslava Balaščaková, Pavlína Danhofer, Lenka Juříková, Dagmar Grečmalová, Andrea Gřegořová, Pavlína Plevová, Martina Langová, Tomáš Honzík, Martin Magner, Martina Klincová, Pavla Solařová, Mária Šenkeříková, Lenka Fajkusová   +26 more
wiley   +1 more source

Implications of Intravenous and Inhaled Amikacin Breakpoint Reporting for <i>Mycobacterium avium</i> Complex Pulmonary Isolates. [PDF]

Pathogens
Gill CM, Chamberland R, Abate G.
europepmc   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Luciferase reporter mycobacteriophage (TM4::<i>GeNL</i>) enables rapid assessment of drug susceptibilities and inducible macrolide resistance in <i>Mycobacterium abscessus</i> complex. [PDF]

J Clin Microbiol
Rajagopalan S, Das L, Kohlerschmidt DJ, Rourke AK, Shakir SM, Larsen MH, O'Donnell MR, Szymczak WA, Escuyer VE, Thwe PM, Jacobs WR.   +10 more
europepmc   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Intratympanic steroid administration and predictors of recovery in sudden sensorineural hearing loss. [PDF]

PLoS One
Kennedy DJ, Williams E, Wolf L, Golden J, Lana A, Wiefels M, Pyle M, Yunis V, Hoffer M.   +8 more
europepmc   +1 more source

Effects of landscape fragmentation on floodplain fishes as revealed by species–habitat networks

Conservation Biology, EarlyView.
Abstract How species interact with habitat patches is influenced primarily by habitat configuration (e.g., connectivity) and species’ functional traits. As levels of fragmentation increase, identifying the intricate connections between these components is crucial for biodiversity conservation.
Chen Zhang, Jorge García‐Girón, Ziyu Yang, Ziyu Liu, Shuxin Li, Wenhui You, Yihao Ge, Xin Gao, Yunzhi Yan   +8 more
wiley   +1 more source

The Clinical Value of Systemic Immune Inflammatory Index in Predicting the Prognosis of Patients with Bloodstream Infection. [PDF]

J Inflamm Res
Ou S, Lu H, Qu R, Cui X, Xiong Z, Fan F, Yu X, Hasi C.   +7 more
europepmc   +1 more source

Recombinaison et émergence virale : le modèle des Begomovirus [PDF]

, 2008
Lefeuvre, Pierre
core  

Homoharringtonine Promotes FTO Degradation to Suppress LILRB4‐Mediated Immune Evasion in Acute Monocytic Leukaemia

Cell Proliferation, EarlyView.
Homoharringtonine (HHT) suppresses immune evasion in acute monocytic leukaemia (AML‐M5) by attenuating the FTO/m6A/LILRB4 axis, thereby enhancing CD8+ T cell cytotoxicity. ABSTRACT Acute monocytic leukaemia, a subtype of acute myeloid leukaemia (AML), is a highly aggressive malignancy characterised by a poor prognosis, primarily due to the ability of ...
Fangfang Huang, Xiang Luo, Mengyu Zhang, Le Jin, Wenxin Sun, Peihan Chen, Xiuli Hong, Chenyu Xu, Meizhi Jiang, Die Hu, Bin Zhang, Shengwei Hu, Chuanjiang Yang, Rui Gao, Jinzhang Zeng, Quanyi Lu, Qiang Luo, Jun Wu, Siming Chen   +18 more
wiley   +1 more source