American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 195, Issue 7, October 2024.Abstract Hereditary spastic paraplegia (HSP) is a group of familial diseases characterized by progressive corticospinal tract degeneration. Clinically, patients present with lower‐limb spasticity and weakness. To date, more than 80 genetic HSP types have been identified.
Woong‐Woo Lee +2 more
wiley +1 more source
Tetrahydroisoquinoline derivatives: a new perspective on monoaminergic dysfunction in children with ADHD? [PDF]
, 2007 BACKGROUND: The dopamine-derived tetrahydroisoquinolines (TIQ) synthesized endogeneously from aldehydes and catecholamines have shown to modulate neurotransmission, central metabolism and motor activity.
Andreas Moser +7 more
core +4 more sources
Australian and New Zealand Journal of Obstetrics and Gynaecology, Volume 64, Issue 5, Page 467-474, October 2024.Background Trio exome sequencing can be used to investigate congenital abnormalities identified on pregnancy ultrasound, but its use in an Australian context has not been assessed. Aims Assess clinical outcomes and changes in management after expedited genomic testing in the prenatal period to guide the development of a model for widespread ...
Alice Rogers +21 more
wiley +1 more source
Structural and Mechanistic Analysis of the Choline Sulfatase from Sinorhizobium melliloti: A Class I Sulfatase Specific for an Alkyl Sulfate Ester. [PDF]
, 2018 Hydrolysis of organic sulfate esters proceeds by two distinct mechanisms, water attacking at either sulfur (S-O bond cleavage) or carbon (C-O bond cleavage).
Bornberg-Bauer, Erich +7 more
core +1 more source
\u3ci\u3eDe novo\u3c/i\u3e Whole Genome Assembly of the Swede Midge (\u3ci\u3eContarinia nasturtii\u3c/i\u3e), a Specialist of Brassicaceae, Using Linked-Read Sequencing [PDF]
, 2021 The swede midge, Contarinia nasturtii, is a cecidomyiid fly that feeds specifically on plants within the Brassicaceae. Plants in this family employ a glucosinolate-myrosinase defense system, which can be highly toxic to non-specialist feeders. Feeding by
Campbell, Erin O. +6 more
core +1 more source
An integrated genetic map of the pearl locus of mouse chromosome 13. [PDF]
, 1996 We have used a Mus domesticus/spretus congenic animal and two interspecific backcross panels to map genetically 30 sequence-tagged sites (STSs) and 13 genes to the vicinity of the pearl locus on mouse chromosome 13.
Gorin, MB +7 more
core +1 more source
Computational approach for assessing the involvement of SMYD2 protein in human cancers using TCGA data. [PDF]
J Genet Eng Biotechnol, 2023 Yadav AK, Singh TR.
europepmc +1 more source
Herbivorous Fish Microbiome Adaptations to Sulfated Dietary Polysaccharides. [PDF]
Appl Environ Microbiol, 2023 Podell S +10 more
europepmc +1 more source
Effect of wheat rotations and fertilization on soil microorganisms and enzymes of a Brown loam [PDF]
, 1987 Non-Peer ...
Biederbeck, V.O., Campbell, C.A.
core
Metabolism and gene sequence variation in Turicella otitidis implies its adaptability and pathogenicity in extra-otic infection: a systematic review. [PDF]
BMC Infect Dis, 2023 Ahamad A +5 more
europepmc +1 more source