Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero+15 more
wiley +1 more source
Unraveling the mitochondrial genome of the medicinal Chinese motherwort (<i>Leonurus japonicus</i>, Lamiaceae): structural dynamics, organelle-to-nuclear gene transfer, and evolutionary implications. [PDF]
Bai X+10 more
europepmc +1 more source
Phenotyping Healthcare Use 2–3 Decades Before the First Multiple Sclerosis Demyelinating Event
ABSTRACT Objective Phenotype hospital, physician, and emergency department (ED) visits by diagnoses and specialty up to 29 years pre‐multiple sclerosis (MS) onset versus a matched population without MS. Methods We identified people with MS (PwMS) using population‐based administrative data from Ontario, Canada (1991–2020).
Helen Tremlett+8 more
wiley +1 more source
Corrigendum to "PEI-PEG-Coated Mesoporous Silica Nanoparticles Enhance the Antitumor Activity of Tanshinone IIA and Serve as a Gene Transfer Vector". [PDF]
Zhu Y+6 more
europepmc +1 more source
BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach+11 more
wiley +1 more source
Defence systems and horizontal gene transfer in bacteria. [PDF]
Kogay R, Wolf YI, Koonin EV.
europepmc +1 more source
Paroxysmal Dyskinesias Secondary to HHV‐6A Encephalitis: The First Case Report and Literature Review
ABSTRACT Paroxysmal dyskinesias encompasses a spectrum of conditions marked by intermittent involuntary movements, with paroxysmal kinesigenic dyskinesias being the most common phenotype. Central nervous system infection is a rare cause of paroxysmal dyskinesias.
Zhuoran Wang+5 more
wiley +1 more source
Gene transfer between fungal species triggers repeated coffee wilt disease outbreaks. [PDF]
Wingfield BD, Wingfield MJ.
europepmc +1 more source
Clinical Characteristics of Parkinsonism in HTLV‐1‐Associated Myelopathy
ABSTRACT Objective Human T‐lymphotropic virus type 1 (HTLV‐1)‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is the classic neurological manifestation of HTLV‐1 infection; however, this virus has also been associated with other neurological disorders. Concurrent parkinsonism is relatively rare and presents diagnostic challenges.
Mika Dozono+8 more
wiley +1 more source