Results 191 to 200 of about 79,198 (289)
ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis
ABSTRACT Background Ichthyosis fetalis (IF), also known as harlequin ichthyosis, is a rare and often fatal autosomal recessive congenital skin disorder. It is characterized by thickened, hard skin plaques and deep skin fissures that limit mobility and cause malformations of the eyes, lips and ears.
Jeanna M. Blake +2 more
wiley +1 more source
Faculty Opinions recommendation of Assessing non-Mendelian inheritance in inherited axonopathies.
openaire +2 more sources
Abstract To improve the identification of minor‐effect molecular markers and genes associated with quantitative traits, addressing inefficiencies in traditional molecular marker mining and the limited impact of these markers in practical breeding, we analyzed over 15,000 soybean (Glycine max) genotypes across nine maturity groups using an AI‐driven ...
Wei Zhou +6 more
wiley +1 more source
ABSTRACT Genome‐wide non‐invasive prenatal testing (NIPT) is a powerful tool for prenatal detection of the common aneuploidies causing Down‐, Edwards‐, and Patau syndrome. Its genome‐wide reach also enables the detection of unbalanced structural chromosomal abnormalities.
Servi J. C. Stevens +9 more
wiley +1 more source
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu +10 more
wiley +1 more source
ABSTRACT Background Chronic pain, which is often unrelated to ongoing injury, is poorly understood and difficult to treat. Genetic studies have identified voltage‐gated sodium (Nav) channels, particularly gain‐of‐function mutations such as L858F and R1150W in human NaV1.7, as involved in the development of chronic pain. Methods A chronic pain model was
Serena Mares Malta +7 more
wiley +1 more source
Identifying Causal Genotype–Phenotype Relationships for Population‐Sampled Parent–Child Trios
ABSTRACT The process by which genes are transmitted from parent to child provides a source of randomization preceding all other factors that may causally influence any particular child phenotype. Because of this, it is natural to consider genetic transmission as a source of experimental randomization.
Yushi Tang +2 more
wiley +1 more source
Analysis of family history data for evidence of non-Mendelian inheritance resulting from vertical transmission. [PDF]
Paul Fine
openalex +1 more source

