A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy [PDF]
Nature Communications, 2019 Genetic variants in RP1 can cause hereditary retinal degeneration (HRD). Here, in a genomic screen of 331 Japanese HRD patients, the authors identify a near-polymorphic RP1 variant that causes Mendelian HRD in trans with an Alu insertion and otherwise is
Konstantinos Nikopoulos +27 more
doaj +5 more sources
Clarifying Mendelian vs non-Mendelian inheritance. [PDF]
GeneticsAbstract Gregor Mendel developed the principles of segregation and independent assortment in the mid-1800s based on his detailed analysis of several traits in pea plants. Those principles, now called Mendel's laws, in fact, explain the behavior of genes and alleles during meiosis and are now understood to underlie “Mendelian inheritance”
Strome S +4 more
europepmc +6 more sources
Assessing non-Mendelian inheritance in inherited axonopathies. [PDF]
Genet Med, 2020 Inherited axonopathies (IA) are rare, clinically and genetically heterogeneous diseases that lead to length-dependent degeneration of the long axons in central (hereditary spastic paraplegia [HSP]) and peripheral (Charcot-Marie-Tooth type 2 [CMT2]) nervous systems.
Bis-Brewer DM +19 more
europepmc +7 more sources
Breeding of Cav2.3 deficient mice reveals Mendelian inheritance in contrast to complex inheritance in Cav3.2 null mutant breeding [PDF]
Scientific Reports, 2021 High voltage-activated Cav2.3 R-type Ca2+ channels and low voltage-activated Cav3.2 T-type Ca2+ channels were reported to be involved in numerous physiological and pathophysiological processes.
Anna Papazoglou +4 more
doaj +4 more sources
Equus in Online Mendelian Inheritance in Animals (OMIA) [PDF]
AnimalsOnline Mendelian Inheritance in Animals (OMIA is a freely available information resource, which includes information for Equus inherited traits/diseases (collectively called phenes).
Imke Tammen +3 more
doaj +3 more sources
Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance. [PDF]
J Neurochem, 2016 Abstract Parkinson's disease is a common, progressive neurodegenerative disorder, affecting 3% of those older than 75 years of age. Clinically, Parkinson's disease ( PD ) is associated with resting tremor, postural instability,
Hernandez DG, Reed X, Singleton AB.
europepmc +5 more sources
Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus. [PDF]
Am J Med Genet A, 2021 Victor McKusick's many contributions to medicine are legendary, but his magnum opus is Mendelian Inheritance in Man (MIM), his catalog of Mendelian phenotypes and their associated genes.
Hamosh A +4 more
europepmc +2 more sources
trioPhaser: using Mendelian inheritance logic to improve genomic phasing of trios [PDF]
BMC Bioinformatics, 2021 Background When analyzing DNA sequence data of an individual, knowing which nucleotide was inherited from each parent can be beneficial when trying to identify certain types of DNA variants.
Dustin B. Miller, Stephen R. Piccolo
doaj +2 more sources
Complex nutrient channel phenotypes despite Mendelian inheritance in a Plasmodium falciparum genetic cross. [PDF]
PLoS Pathog, 2020 Malaria parasites activate a broad-selectivity ion channel on their host erythrocyte membrane to obtain essential nutrients from the bloodstream. This conserved channel, known as the plasmodial surface anion channel (PSAC), has been linked to parasite ...
Gupta A +9 more
europepmc +2 more sources
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders [PDF]
Nucleic Acids Res., 2014 Online Mendelian Inheritance in Man, OMIM®, is a comprehensive, authoritative and timely research resource of curated descriptions of human genes and phenotypes and the relationships between them.
Joanna Amberger +4 more
openalex +2 more sources