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Vet Clin Pathol
December 2024
Département des Sciences Cliniques, des Animaux de Compagnie et de Sport, Université de Toulouse, ENVT, Toulouse, France.
Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population.
Breast Cancer Res
January 2025
Servicio de Oncología, Centro Universitario Contra el Cáncer (CUCC), Hospital Universitario "Dr. José Eleuterio González", Universidad Autónoma de Nuevo León, 66451, Monterrey, Nuevo León, México.
Background: Hereditary predisposition to breast and ovarian cancer syndrome (HBOC) is a pathological condition with increased cancer risk, including breast (BC), ovarian cancer (OC), and others. HBOC pathogenesis is caused mainly by germline pathogenic variants (GPV) in BRCA1 and BRCA2 genes. However, other relevant genes are related to this syndrome diagnosis, prognosis, and treatment, including TP53, PALB2, CHEK2, ATM, etc.
View Article and Find Full Text PDFA rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly.
Genome Med
January 2025
Otology & Neurotology Group CTS495, Instituto de Investigación Biosanitario, Ibs.GRANADA, Universidad de Granada, 18071, Granada, Spain.
Background: Familial Meniere's disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown.
Methods: We retrieved exome sequencing data from 94 individuals in 70 Meniere's disease (MD) families.
Pediatric high-grade gliomas with concomitant RB1 and SETD2 alterations and Li-Fraumeni syndrome.
Acta Neuropathol Commun
January 2025
Department of Neuropathology, GHU-Paris Psychiatrie et Neurosciences, Hôpital Sainte Anne, 1, rue Cabanis, F- 75014, Paris, France.
SNORA37/CMTR1/ELAVL1 feedback loop drives gastric cancer progression via facilitating CD44 alternative splicing.
J Exp Clin Cancer Res
January 2025
Department of Pathology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1277 Jiefang Avenue, Wuhan, 430022, Hubei Province, People's Republic of China.
Background: Emerging evidence shows that small nucleolar RNA (snoRNA), a type of highly conserved non-coding RNA, is involved in tumorigenesis and aggressiveness. However, the roles of snoRNAs in regulating alternative splicing crucial for cancer progression remain elusive.
Methods: High-throughput RNA sequencing and comprehensive analysis were performed to identify crucial snoRNAs and downstream alternative splicing events.
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