LRRK2 as a Potential Disease‐Modifying Target in Sporadic Parkinson's Disease
Movement Disorders, EarlyView.Abstract A growing understanding of the role that leucine‐rich repeat kinase 2 (LRRK2) plays in Parkinson's disease (PD) supports continued focus on this enzyme as a therapeutic target for PD. Accumulating evidence suggests that there are phenotypic, neuropathologic, and biological similarities between sporadic PD (sPD) and familial forms in which ...
Anthony E. Lang +12 more
wiley +1 more source
Can we apply the Mendelian randomization methodology without considering epigenetic effects?
Emerging Themes in Epidemiology, 2009 Introduction Instrumental variable (IV) methods have been used in econometrics for several decades now, but have only recently been introduced into the epidemiologic research frameworks.
Karmaus Wilfried +2 more
doaj +1 more source
Both male and female meiosis contribute to non‐Mendelian inheritance of parental chromosomes in interspecific plant hybrids (Lolium × Festuca) [PDF]
, 2023 Joanna Majka +10 more
openalex +1 more source
Chance in the Modern Synthesis [PDF]
, 2016 The modern synthesis in evolutionary biology is taken to be that period in which a consensus developed among biologists about the major causes of evolution, a consensus that informed research in evolutionary biology for at ...
Matthews, Lucas John +3 more
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‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy
Movement Disorders, EarlyView.Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras +19 more
wiley +1 more source
Defense heterosis as a novel plant protection strategy: From theory to breeding practice
New Plant Protection, EarlyView.Defense heterosis, the enhanced disease resistance of hybrids compared to their parents, has evolved from early observations of hybrid vigor to a novel research concept. Advances are now clarifying its diverse genetic and molecular mechanisms across various plant–pathogen interactions.
Kaiqi Xu, Xue Li, Fangfang Li
wiley +1 more source
Evolving Methods in Genetic Epidemiology. IV. Approaches to Non-Mendelian Inheritance [PDF]
Epidemiologic Reviews, 1997 From this overview it can be concluded that the understanding of the biologic properties and the development of analytic tools to identify repeat sequence mutations, genomic imprinting effects, and mitochondrial mutations are only beginning. Development of approaches to identify such phenomena as modifying effects or genetic components of complex ...
openaire +2 more sources
Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei +9 more
wiley +1 more source
Myotonia Congenita in Australian Merino Sheep with a Missense Variant in CLCN1
AnimalsMyotonia congenita is a hereditary, non-dystrophic skeletal muscle disorder associated with muscle stiffness due to delayed muscle relaxation after contraction.
Leah K. Manning +10 more
doaj +1 more source
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. [PDF]
, 2018 Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these undiagnosed disorders often have complex presentations and require treatment by multiple health care ...
Bjonnes, Andrew +47 more
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