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Mutation

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

Rong Zhang, Jan Gehlen, [ ... ], Heiko Reutter

Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation

Saki Sultana, Jacklyn Stewart, Aarnoud C. van der Spoel

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression

Richa Singh, Shreya Das, [ ... ], Bidyut Roy

RpoS is a pleiotropic regulator of motility, biofilm formation, exoenzymes, siderophore and prodigiosin production, and trade-off during prolonged stationary phase in Serratia marcescens

Han Qin, Ying Liu, [ ... ], Yi Cao

Intragenic suppressor mutations of the COQ8 protein kinase homolog restore coenzyme Q biosynthesis and function in Saccharomyces cerevisiae

Agape M. Awad, Anish Nag, [ ... ], Catherine F. Clarke

Unique insights from ClinicalTrials.gov by mining protein mutations and RSids in addition to applying the Human Phenotype Ontology

Shray Alag

Linezolid-resistant Enterococcus faecium strains isolated from one hospital in Poland –commensals or hospital-adapted pathogens?

Beata Krawczyk, Magdalena Wysocka, [ ... ], Alfred Samet

Mismatch repair deficiency in metastatic prostate cancer: Response to PD-1 blockade and standard therapies

Laura S. Graham, Bruce Montgomery, [ ... ], Michael T. Schweizer

Mitochondrial DNA mutations in Malaysian female breast cancer patients

Raevathi Omasanggar, Choo Yee Yu, [ ... ], Sandra Maniam

High polymerase ε expression associated with increased CD8+T cells improves survival in patients with non-small cell lung cancer

Kyueng-Whan Min, Wan-Seop Kim, [ ... ], Jung-Hoon Park

High prevalence of phenotypic pyrazinamide resistance and its association with pncA gene mutations in Mycobacterium tuberculosis isolates from Uganda

Resty Naluyange, Gerald Mboowa, [ ... ], Willy Ssengooba

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation

Chenyu Zhao, DongFang Tang, [ ... ], Xiaoliu Shi

The role of the C₂A domain of synaptotagmin 1 in asynchronous neurotransmitter release

Mallory C. Shields, Matthew R. Bowers, [ ... ], Noreen E. Reist

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