Expanding molecular roles of UV-DDB: Shining light on genome stability and cancer.
Sign Up to like & getrecommendations! Published in 2020 at "DNA repair"
DOI: 10.1016/j.dnarep.2020.102860
Abstract: UV-damaged DNA binding protein (UV-DDB) is a heterodimeric complex, composed of DDB1 and DDB2, and is involved in global genome nucleotide excision repair. Mutations in DDB2 are associated with xeroderma pigmentosum complementation group E. UV-DDB… read more here.
Keywords: ddb shining; molecular roles; roles ddb; cancer ... See more keywords
Expanding the molecular signatures of malignant ossifying fibromyxoid tumours with two novel gene fusions: PHF1::FOXR1 and PHF1::FOXR2
Sign Up to like & getrecommendations! Published in 2023 at "Histopathology"
DOI: 10.1111/his.14868
Abstract: Ossifying fibromyxoid tumor (OFMT) is a rare enigmatic tumor of uncertain differentiation that can be classified as typical, atypical, and malignant subtypes based on cellularity, nuclear grade, and mitotic activity. The majority of OFMTs, regardless… read more here.
Keywords: expanding molecular; fibromyxoid tumours; molecular signatures; signatures malignant ... See more keywords
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23115912
Abstract: KBG syndrome (KBGS) is a neurodevelopmental disorder caused by the Ankyrin Repeat Domain 11 (ANKRD11) haploinsufficiency. Here, we report the molecular investigations performed on a cohort of 33 individuals with KBGS clinical suspicion. By using… read more here.
Keywords: kbg syndrome; molecular spectrum; expanding molecular; spectrum ankrd11 ... See more keywords