Results 181 to 190 of about 72,863 (253)

Lower Striatal and Cortical Calretinin Interneuron Density Associated With Altered Social Behavior in Cntnap2 Knockout Mice

Autism Research, EarlyView.
ABSTRACT Variants in the CNTNAP2 gene, encoding the cell adhesion molecule CASPR2, have been identified as genetic risk factors for autism spectrum disorder (ASD). However, the mechanisms through which CNTNAP2 dysfunction alters circuit function remain unknown.
Krisztina Sáfár, Vivien Szendi, Paulina Hoppa, Yutong Wang, Fanni Á. Seres, Szilvia Bartók, Tyler Teadora, Lei Shi, Árpád Dobolyi, Gina Puska, István Adorján   +10 more
wiley   +1 more source

Cost‐effectiveness of DPYD genotyping prior to fluoropyrimidine‐based treatment for colorectal cancer in Wales

British Journal of Clinical Pharmacology, EarlyView.
Abstract Background Regulatory guidance in the United Kingdom advises DPYD genotyping prior to fluoropyrimidine‐based treatment. This economic evaluation estimated the costs and outcomes associated with DPYD screening prior to prescribing fluoropyrimidines for colorectal cancer in Wales and also considers additional variants to those included in ...
Catrin O. Plumpton, Sian M. Morgan, Richard A. Adams, Samantha Cox, Angharad A. Rudkin, Megan Fealey, Craig Barrington, Michelle D. Wood, Dyfrig A. Hughes   +8 more
wiley   +1 more source

Step-wise evolution of azole resistance through copy number variation followed by KSR1 loss of heterozygosity in Candida albicans. [PDF]

PLoS Pathog
Vande Zande P, Gautier C, Kawar N, Maufrais C, Metzner K, Wash E, Beach AK, Bracken R, Maciel EI, Pereira de Sá N, Fernandes CM, Solis NV, Del Poeta M, Filler SG, Berman J, Ene IV, Selmecki A.   +16 more
europepmc   +1 more source

A descriptive case series of hepatotoxicity associated with CFTR modulators and possible relevance of pharmacogenetic polymorphisms in cystic fibrosis patients

British Journal of Clinical Pharmacology, EarlyView.
Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are widely used in patients with cystic fibrosis and significantly improve respiratory function and quality of life. However, their effectiveness may be limited by liver damage, which sometimes leads to treatment discontinuation, and the mechanisms underlying this remain poorly ...
Clara Laffitte Redondo, Venceslas Bourdin, Abd El Kader Ait Tayeb, Sihem Benaboud, Inès Martins, Caroline Joyau, Myriam Benhamida, Isabelle Sermet‐Gaudelus, Clémence Martin, Pierre Régis Burgel, Céline Verstuyft, Laurent Chouchana, Estelle Ayme‐Dietrich   +12 more
wiley   +1 more source

The power of many: when genetics met yeasts and high‐throughput

Biological Reviews, EarlyView.
ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley   +1 more source

The Influence of Drosophila Spire and Myosin V During Mid‐Oogenesis Is Independent of Their Direct Interaction

Cytoskeleton, EarlyView.
ABSTRACT Cooperativity between cytoskeletal proteins is crucial for spatiotemporal coordination in biological processes, like oogenesis. In mammalian and Drosophila oogenesis, proper assembly and function of actin networks require coordination between actin assembly factors Spire and formins, as well as actin‐associated proteins like myosins and Rab ...
Joseph Y. Ong, Hannah M. Bailey, Emma Carley, Michelle Panzica, Merin Rixen, Neil Billington, Rong Liu, Margot E. Quinlan   +7 more
wiley   +1 more source

Analytical Validation of Loss of Heterozygosity and Mutation Detection in Pancreatic Fine-Needle Aspirates by Capillary Electrophoresis and Sanger Sequencing. [PDF]

Diagnostics (Basel)
Timmaraju VA, Finkelstein SD, Levine JA.
europepmc   +1 more source

From Metabolic Crisis to Molecular Classification: Multidisciplinary Management of Synchronous Endometrioid Ovarian and Endometrial Carcinomas With Massive Tumor Burden

Cancer Nexus, EarlyView.
Managing massive tumor burden in synchronous endometrioid carcinomas. The graphical abstract summarizes the clinical pathway from presentation with massive ascites, pleural effusion, and critical metabolic abnormalities to multidisciplinary stabilization, surgical management, integrated morphologic–molecular classification, and shared decision‐making ...
Anna Homeniuk, Leena Abdalla, Sharon Fitzgerald   +2 more
wiley   +1 more source

Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing. [PDF]

Sci Rep
Xue H, Yu A, Zhang L, Chen L, Guo Q, Lin M, Lin N, Chen X, Xu L, Huang H.   +9 more
europepmc   +1 more source

Population Genomics Insights into Pharmacogenomic Differentiation Between East Asians and Europeans

Clinical Pharmacology &Therapeutics, EarlyView.
Genetic variation contributes substantially to interindividual and interpopulation differences in drug response, yet most pharmacogenomic studies remain biased toward European populations. Here, we systematically assessed pharmacogenomic variation across East Asians (EAS) and Europeans (EUR) using public genomic datasets and investigated the potential ...
Sihan Chen, Hongpu Chen, Shuhua Xu
wiley   +1 more source