Results 61 to 70 of about 305,611 (291)
MLPH Genotype—Melanin Phenotype Correlation in Dilute Dogs [PDF]
, 2017 Coat color dilution in dogs is a specific pigmentation phenotype caused by a defective transport of melanosomes leading to large clumps of pigment. It is inherited as a Mendelian autosomal recessive trait and may be accompanied by hair loss, the so ...
Brenig, B. +13 more
core
Genotype-phenotype correlations in Graves’ disease
Best Practice & Research Clinical Endocrinology & Metabolism, 2023 Graves' disease (GD) is a heterogeneous autoimmune disease affecting with varying degrees of severity the thyroid gland, orbital tissues and skin. The pathogenesis of GD involves a complex interplay between multiple genetic, environmental and endogenous factors. Although the genetic predisposition to GD is well established, the significance of genotype-
Mikołaj, Radziszewski +2 more
openaire +2 more sources
Molecular Oncology, EarlyView.Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon +9 more
wiley +1 more source
Pleiotropy of FRIGIDA enhances the potential for multivariate adaptation. [PDF]
, 2013 An evolutionary response to selection requires genetic variation; however, even if it exists, then the genetic details of the variation can constrain adaptation.
Easlon, Hsien M +9 more
core +1 more source
Molecular Oncology, EarlyView.Cytarabine is a key therapy for acute myeloid leukaemia (AML), but its efficacy is limited by the dNTPase SAMHD1, which hydrolyses its active metabolite. Screening nucleotide biosynthesis inhibitors revealed that IMPDH inhibitors selectively sensitise SAMHD1‐proficient AML cells to cytarabine.
Miriam Yagüe‐Capilla +9 more
wiley +1 more source
TNFRSF1A gene variant identified in a boy with recurrent episodes of fever [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2018 Introduction. Fever of unknown origin is an important diagnostic challenge. Although rare, periodic fever syndromes may often present with a chronic or recurrent febrile condition with a variable temporal pattern of occurrence.
Janković Srđa +3 more
doaj +1 more source
Population Structure and Cryptic Relatedness in Genetic Association Studies [PDF]
, 2009 We review the problem of confounding in genetic association studies, which arises principally because of population structure and cryptic relatedness. Many treatments of the problem consider only a simple ``island'' model of population structure. We take
Astle, William, Balding, David J.
core +4 more sources
Genotype–phenotype correlations in Marfan syndrome [PDF]
Heart, 2017 Marfan syndrome (MFS) is an autosomal dominant connective-tissue disorder associated with abnormalities of the cardiovascular, ocular and musculoskeletal systems. Aortopathy, manifest as thoracic aortic aneurysm (TAA) and dissection, is the major cause of morbidity and mortality. Most individuals with MFS carry mutations in the gene FBN1 .
Landis, Benjamin J. +2 more
openaire +2 more sources
Molecular Oncology, EarlyView.Keratin 19 (KRT19) is overexpressed in high‐grade serous ovarian cancer with high levels of Kallikrein‐related peptidases (KLK) 4–7 and is associated with poor survival. In vivo analyses demonstrate that elevated KRT19 increases peritoneal tumour burden.
Sophia Bielesch +13 more
wiley +1 more source
Using numerical plant models and phenotypic correlation space to design achievable ideotypes
, 2017 Numerical plant models can predict the outcome of plant traits modifications resulting from genetic variations, on plant performance, by simulating physiological processes and their interaction with the environment.
Casadebaig, Pierre +6 more
core +3 more sources