Results 161 to 170 of about 241,061 (333)
Cancer Communications, EarlyView.Abstract Background Diffuse large B‐cell lymphoma (DLBCL) is the most common subtype of aggressive non‐Hodgkin's lymphoma with distinct clinical and molecular heterogeneity. DLBCL that arises in extranodal organs is particularly linked to poor prognosis. This study aimed to determine the clinical and molecular characteristics of extranodal involvement (
Si‐Yuan Chen +46 more
wiley +1 more source
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene [PDF]
, 1995 Hannie Kremer +11 more
openalex +1 more source
Is Mycobacterial InhA a Suitable Target for Rational Drug Design?
ChemMedChem, EarlyView.InhA is the target of isoniazid, a first‐line antituberculosis drug. Isoniazid is, in fact, a prodrug that needs to be activated. Researchers are trying to develop direct inhibitors of InhA. This includes the resolution of crystallographic structures. The Protein Data Bank contains over a hundred InhA structures.
Julien Rizet +7 more
wiley +1 more source
Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign. [PDF]
, 2013 BackgroundMany genes have been reported as harboring autosomal dominant mutations causing retinal dystrophy. As newly available gene panel sequencing and whole exome sequencing will open these genes up to greater scrutiny, we assess the rate of rare ...
Gorin, Michael B, Strom, Samuel P
core +2 more sources
High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population [PDF]
, 1996 P. J. Saker +9 more
openalex +1 more source
Environmental and Molecular Mutagenesis, EarlyView.Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons +17 more
wiley +1 more source
Annals of Saudi Medicine, 2011 Background and Objectives: Peroxisome proliferator-activated receptors (PPARs) play an important role in a number of cellular and metabolic functions. This study was carried out to determine the prevalence of a missense mutation (Pro12Ala) in the PPARG2 ...
Al-Jarallah Khaled +2 more
doaj
A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia [PDF]
, 1998 Naoya Sugimoto +3 more
openalex +1 more source
Generation of Casp8FL122/123GG Mice Using CRISPR-Cas9 Technology
STAR Protocols, 2020 Summary: The purpose of this protocol is to describe the generation of missense mutations in mice using CRISPR-Cas9 technology. The current protocol focuses on the generation of a Casp8FL122/123GG missense mutation, but it can be adapted to introduce any
Stephane Pelletier +2 more
doaj