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Mechanism of Conformational Selection of tRNA by Bacterial Deaminase TadA.
Biochemistry
March 2025
Department of Chemistry, Indian Institute of Technology Bombay, Powai, Mumbai 400076, India.
Base editing is a common mechanism by which organisms expand their genetic repertoire to access new functions. Here, we explore the mechanism of tRNA recognition in the bacterial deaminase TadA, which exclusively recognizes tRNA and converts the wobble base adenosine (A34) to inosine. We quantitatively evaluate the dynamics of tRNA binding by incorporating the fluorescent adenine analogue 2-aminopurine (2-AP) at position 34 in the wobble base of the anticodon loop.
View Article and Find Full Text PDFInflammatory Signatures in VEXAS Syndrome, Myelodysplasia Cutis, and Sweet Syndrome.
JAMA Dermatol
March 2025
Service de Dermatologie et Allergologie, Faculté de Médecine, Sorbonne Université, Hôpital Tenon, Assistance Publique-Hôpitaux de Paris, Paris, France.
Importance: VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a monogenic disease caused by UBA1 somatic variants in hematopoietic progenitor cells, mostly involving adult men. It is associated with inflammatory-related symptoms, frequently involving the skin and hematological disorders. Recently described myelodysplasia cutis (MDS-cutis) is a cutaneous manifestation of myelodysplasia in which clonal myelodysplastic cells infiltrate the skin.
View Article and Find Full Text PDFEndometriosis and cancer risk.
Eur J Cancer Prev
March 2025
Department of Oncology and Hemato-Oncology, University of Milan.
Endometriosis is one of the most common gynecological benign disease. Epidemiological evidence suggests a potential association between endometriosis and cancer risk. Accumulating evidence highlighted the risk of ovarian cancer, particularly endometrioid and clear cell subtypes.
View Article and Find Full Text PDF4-phenylbutyric acid attenuates diabetes mellitus secondary to thiamine-responsive megaloblastic anaemia syndrome by modulating endoplasmic reticulum stress.
Endokrynol Pol
March 2025
Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi, China.
Introduction: Thiamine-responsive megaloblastic anaemia syndrome (TRMA) is a rare genetic disease caused by mutations in the SLC19A2 gene that encodes thiamine transporter 1 (THTR-1). The common manifestations are diabetes, anaemia, and deafness. The pathogenic mechanism has not yet been clarified.
View Article and Find Full Text PDFGenetic and functional analysis of TUBB1 variants in congenital hypothyroidism.
Endokrynol Pol
March 2025
Medical Genetics Department and Prenatal Diagnosis Centre, The Affiliated Hospital of Qingdao University, Qingdao, China.
Background: Congenital hypothyroidism (CH) is the most common neonatal disorder, primarily caused by thyroid dysgenesis (TD). While the genetic cause has been identified in less than 5% of TD cases, there is an urgent need to investigate additional gene mutations that may be responsible. In 2018, TUBB1 was identified as a novel candidate gene associated with TD.
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