Results 151 to 160 of about 13,351 (224)
The RNA Binding Protein Bcas2 is Required for Antibody Class Switch in Activated‐B Cells
Bcas2 recruits DHX15 and SRSF7 to form a protein complex for the splicing of CSR‐related mRNA at the 5' ss and 3' ss, generating two mature mRNA isoforms, which are ultimately translated into CSR‐related proteins. These CSR‐related proteins bind to DNA associated with antibodies, affecting the DSB repair of the relevant DNA after AID induction, thereby
Yu Chen+29 more
wiley +1 more source
Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations [PDF]
US Khoo+8 more
openalex +1 more source
Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome [PDF]
Vesarat Wessagowit+3 more
openalex +1 more source
Aggressive Head and Neck Squamous Cell Carcinoma in the Setting of GATA2 Deficiency
ABSTRACT Background GATA2 deficiency is a rare genetic disorder associated with hematologic, infectious, and neoplastic complications. We report a case of a patient with GATA2 deficiency who developed aggressive squamous cell carcinoma (SCC) of the head and neck, an atypical manifestation of this condition.
Brejjette Aljabi+3 more
wiley +1 more source
ABSTRACT Background Data connecting PTEN mutations with thyroid cancer risk for indeterminate nodules remain limited due to the rare nature of these mutations. The aim of this study was to determine the relationship between PTEN mutations identified in cytologically indeterminate nodules and final pathology and clinical outcomes.
Lauren E. Schlegel+5 more
wiley +1 more source
Germline mutations of thedpc4 gene in Korean juvenile polyposis patients [PDF]
Il-Jin Kim+8 more
openalex +1 more source
Abstract Background Medullary thyroid cancer (MTC) standard of care includes multikinase inhibitors (MKIs), which can exacerbate disease‐related diarrhea, primarily because of non‐RET kinase inhibition. We report diarrhea and other patient‐reported outcomes (PROs) with selpercatinib, a highly selective RET inhibitor, among patients with RET‐mutant MTC ...
Lori J. Wirth+10 more
wiley +1 more source
Germline CDKN2A Mutations in Childhood Melanoma [PDF]
David C. Whiteman+4 more
openaire +3 more sources
Absence of germline mutations in MINPP1, a phosphatase encoding gene centromeric of PTEN, in patients with Cowden and Bannayan-Riley- Ruvalcaba syndrome without germline PTEN mutations [PDF]
Patricia L. M. Dahia
openalex +1 more source