Results 91 to 100 of about 1,118 (255)
FEBS Open Bio, EarlyView.Comparative analysis of chloroplast genomes from 14 genera of Thymelaeaceae revealed variation in gene content, ranging from 128 to 142 genes, primarily influenced by IR expansion/contraction events and pseudogenization of ndhF, ndhI, and ndhG. Two large inversions were detected within the large single‐copy region, including a synapomorphic inversion ...
Abdullah +8 more
wiley +1 more source
FEBS Open Bio, EarlyView.What factors make for an effective digital learning tool in Higher Education? This systematic review identifies elements of a digital tool that published examples reveal to be features of an engaging and impactful digital tool. A systematic literature search yielded 25 research papers for analysis.
Akmal Arzeman +4 more
wiley +1 more source
Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe
FEBS Open Bio, EarlyView.Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley +1 more source
Introduction to the Beckwith-Wiedemann Syndrome and Cancer Special Issue. [PDF]
Cancers (Basel), 2023 Mussa A, Kalish JM.
europepmc +1 more source
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
FEBS Open Bio, EarlyView.Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig +7 more
wiley +1 more source
Anhidrotic ectodermal dysplasia: a case report in a Nigerian child and literature review
Nigerian Journal of PaediatricsThis report of Hereditary anhidrotic ectodermal dysplasia (HAED), a genetic disorder characterized by abnormalities of structures of ectodermal origin, was informed by its rarity, and its import for survival in a tropical environment.
Johnson A-W BR +4 more
doaj
Sub-Acute Combined Degeneration of Spinal Cord a Rarity in Adolescence: Case Report
, 2020 Parvinder Singh
openalex +1 more source
FEBS Open Bio, EarlyView.KLK7, a tissue kallikrein‐related peptidase, is elevated in advanced colorectal cancer and associated with shorter survival. High KLK7 levels in ascites correlate with peritoneal metastasis. In mice, KLK7 overexpression increases metastasis. In vitro, KLK7 enhances cancer cell proliferation, migration, adhesion, and spheroid formation, driving ...
Yosr Z. Haffani +6 more
wiley +1 more source
Tracking Motor Progression and Device‐Aided Therapy Eligibility in Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterise the progression of motor symptoms and identify eligibility for device‐aided therapies in Parkinson's disease, using both the 5‐2‐1 criteria and a refined clinical definition, while examining differences across genetic subgroups.
David Ledingham +7 more
wiley +1 more source
The influence of rare birds on observer effort and subsequent rarity discovery in the American birdwatching community. [PDF]
PeerJ, 2021 Laney JA +3 more
europepmc +1 more source