Results 51 to 60 of about 73,318 (285)
Identification of a mutation in the para-sodium channel gene of the cattle tick Rhipicephalus (Boophilus) microplus associated with resistance to synthetic pyrethroid acaricides [PDF]
, 2009 Resistance against synthetic pyrethroid (SP) products for the control of cattle ticks in Australia was detected in the field in 1984, within a very short time of commercial introduction.
Corley, S.W. +5 more
core +1 more source
The Interaction of Genetic Background and Mutational Effects in Regulation of Mouse Craniofacial Shape. [PDF]
, 2017 Inbred genetic background significantly influences the expression of phenotypes associated with known genetic perturbations and can underlie variation in disease severity between individuals with the same mutation.
Hallgrímsson, Benedikt +4 more
core +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley +1 more source
Formin isoforms are differentially expressed in the mouse embryo and are required for normal expression of fgf-4 and shh in the limb bud [PDF]
, 1995 Mice homozygous for the recessive limb deformity (ld) mutation display both limb and renal defects. The limb defects, oligodactyly and syndactyly, have been traced to improper differentiation of the apical ectodermal ridge (AER) and shortening of the ...
Chan, David C. +2 more
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt +9 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Sleep‐predominant network hyperexcitability is increasingly recognized as a potential disease‐accelerating comorbidity in Alzheimer's disease (AD). However, its prevalence and risk‐factors remain debated, largely due to cohort‐specific and methodological differences across studies.
Anna B. Szabo +14 more
wiley +1 more source
Previously Identified Genetic Variants in ADGRL3 Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds. [PDF]
, 2019 Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is a neurologic disease that has been reported in young horses from a wide range of breeds. The disease is inherited and associated with vitamin E deficiency during the first
Burns, Erin N +4 more
core +1 more source
Annals of Neurology, EarlyView.Objective Immunothrombosis contributes to ischemic stroke pathophysiology through neutrophil extracellular trap (NET) formation, which promotes thrombus stabilization and microvascular dysfunction. DNase1 is the principal endonuclease responsible for NET degradation.
B. Díaz‐Benito +10 more
wiley +1 more source
BMC Oral Health, 2022 Objectives Peri-implantitis was an inflammatory progress on the tissue around the implant. The Osteoprotegerin G1181C (rs2073618) polymorphism was reported to be related to the increased risk of the peri-implantitis, whereas another found no relationship.
Min Xu +5 more
doaj +1 more source
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model
Annals of Neurology, EarlyView.Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins +104 more
wiley +1 more source